ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED detailed record information

Population Information

NameALFRED UIDPrimary LanguageLanguage Family
ItaliansPO000137LITALIANIndo-European

Synonyms:
Geographic Location1:  37.9N, 7E; 47N, 18.5E  

Sites typed for this population: View List
Population Samples: See Sample Information
External Resources: Ethnologue: Language Description Record    Ethnologue: Country Description Record    
References: See references
Population Description: Italy
References:


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Campania

Sample UID: SA000783S

Sample Description:This sample consists volunteer donors frome the University of Naples "Federico II". The donors were known to reside in the Campania region of Italy. The subjects analyzed were unrelated, and their parents and grandparents had been born in the Campania region of Italy. The subjects gave informed consent.

Number of Chromosomes: 314

Relation to Other Samples:

References:
- Sacchetti L, Calcagno G, Coto I, Tinto N, Vuttariello E, Salvatore F. "Efficiency of two different nine-loci short tandem repeat systems for DNA typing purposes". Clin Chem. 45:178-83.. (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Northern Italy

Sample UID: SA000785U

Sample Description:This sample contains unrelated young adults (age range of 20-49 years) who were recruited from an accessible bank of previously collected anonymous DNA samples. The individuals in this sample were born in the northern (mainly north-western) regions of Italy.

Number of Chromosomes: 470

Relation to Other Samples:

References:
- de Franchis R, Buoninconti A, Mandato C, Pepe A, Sperandeo MP, Del Gado R, Capra V, Salvaggio E, Andria G, Mastroiacovo P. "The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy". J Med Genet. 35:1009-13. . (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian

Sample UID: SA000884U

Sample Description:This sample consists of individuals from northern, central and southern Italy.

Number of Chromosomes: 1668

Relation to Other Samples:

References:
- Maviglia R, Dobosz M, Boschi I, Caglia A, Hall D, Capelli C, d'Aloja E, Pescarmona M, Moscetti A, Pascali VL, Destro-Bisol G. "A repository of 14 PCR-loci Italian gene frequencies in the World Wide Web". Forensic Sci Int 115:99-101. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian

Sample UID: SA000896X

Sample Description:This sample consists of unrelated donors from the Tuscany region (central Italy).

Number of Chromosomes: 302

Relation to Other Samples:

References:
- Ricci U, Klintschar M, Neuhuber F, Giovannucci Uzielli ML. "Study on the STR TPOX in an Italian and an Austrian population using two different primer pairs and three different electrophoretic methods". Int J Legal Med 111:212-214. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian, Northwest

Sample UID: SA000928T

Sample Description:This sample consists of unrelated Italians from the region of Piedmont (Northwest Italy).

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Gino S, Robino C, Torre C, Iorio M, Peruccio D. "LDLR, GYPA, HBGG, D7S8 and GC allele and genotype frequencies in the northwest Italian population". J Forensic Sci 44:171-174. (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Northern Italy

Sample UID: SA000715N

Sample Description:This sample consists of individuals living in northern Italy. The individuals are native to the province or generally to northern Italy. Blood samples were collected from healthy, unrelated donors at the S. Maria Nuova Hospital of Reggio Emilia.

Number of Chromosomes: 604

Relation to Other Samples:

References:
- Corbo RM, Scacchi R, Mureddu L, Mulas G, Castrechini S, Rivast P. "Apolipoprotein B, apolipoprotein E, and angiotensin-converting enzyme polymorphisms in 2 Italian populations at different risk for coronary artery disease and comparison of allele frequencies among European populations". Human Biology 71:933-45. (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Calabria

Sample UID: SA000387S

Sample Description:Blood samples were randomly collected from healthy unrelated volunteer subjects living in the province of Cosenza. The origin of the subjects was ascertained by interviews, and informed consent was obtained. Nine blood samples were also collected from individuals affected by Huntington's disease belonging to six different families.

Number of Chromosomes: 204

Relation to Other Samples:

References:
- Leone O, Muglia M, Gabriele AL, Annesi G, Conforti FL, Imbrogno E, Imbrogno L, Brancati C. "Analysis of the (CAG)n repeat at the IT15 locus in a population from Calabria (southern Italy)". Hum. Biol. 69:653-62. (1997) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Central-southern Italy

Sample UID: SA000786V

Sample Description:This sample contains unrelated young adults (age range of 20-49 years) who were recruited from an accessible bank of previously collected anonymous DNA samples. The individuals in this sample were born in the central-southern regions of Italy.

Number of Chromosomes: 696

Relation to Other Samples:

References:
- de Franchis R, Buoninconti A, Mandato C, Pepe A, Sperandeo MP, Del Gado R, Capra V, Salvaggio E, Andria G, Mastroiacovo P. "The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy". J Med Genet. 35:1009-13. . (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Piemonte

Sample UID: SA000787W

Sample Description:This sample consists of unrelated and apparently healthy individuals. The individuals are from Piemonte, a region in Northern Italy. Subjects were considered from this region when all four grandparents were also from the same region. All individuals gave informed consent.

Number of Chromosomes: 50

Relation to Other Samples:

References:
- Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. "Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy". Thromb Res. 94:249-54. . (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Lombardia

Sample UID: SA000788X

Sample Description:This sample consists of unrelated and apparently healthy individuals. The individuals are from Lombardia, a region in Northern Italy. Subjects were considered from this region when all four grandparents were also from the same region. All individuals gave informed consent.

Number of Chromosomes: 170

Relation to Other Samples:

References:
- Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. "Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy". Thromb Res. 94:249-54. . (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Liguria

Sample UID: SA000789Y

Sample Description:This sample consists of unrelated and apparently healthy individuals. The individuals are from Liguria, a region in Northern Italy. Subjects were considered from this region when all four grandparents were also from the same region. All individuals gave informed consent.

Number of Chromosomes: 100

Relation to Other Samples:

References:
- Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. "Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy". Thromb Res. 94:249-54. . (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Tuscany

Sample UID: SA000790Q

Sample Description:This sample consists of unrelated and apparently healthy individuals. The individuals are from Tuscany, a region in Northern Italy. Subjects were considered from this region when all four grandparents were also from the same region. All individuals gave informed consent.

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. "Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy". Thromb Res. 94:249-54. . (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Lazio

Sample UID: SA000791R

Sample Description:This sample consists of unrelated and apparently healthy individuals. The individuals are from Lazio, a region in Southern Italy. Subjects were considered from this region when all four grandparents were also from the same region. All individuals gave informed consent.

Number of Chromosomes: 112

Relation to Other Samples:

References:
- Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. "Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy". Thromb Res. 94:249-54. . (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Campania

Sample UID: SA000792S

Sample Description:This sample consists of unrelated and apparently healthy individuals. The individuals are from Campania, a region in Southern Italy. Subjects were considered from this region when all four grandparents were also from the same region. All individuals gave informed consent.

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. "Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy". Thromb Res. 94:249-54. . (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Calabria

Sample UID: SA000793T

Sample Description:This sample consists of unrelated and apparently healthy individuals. The individuals are from Calabria, a region in Southern Italy. Subjects were considered from this region when all four grandparents were also from the same region. All individuals gave informed consent.

Number of Chromosomes: 102

Relation to Other Samples:

References:
- Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. "Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy". Thromb Res. 94:249-54. . (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Sicily

Sample UID: SA000794U

Sample Description:This sample consists of unrelated and apparently healthy individuals. The individuals are from Sicily, a region in the Isles of Italy. Subjects were considered from this region when all four grandparents were also from the same region. All individuals gave informed consent.

Number of Chromosomes: 104

Relation to Other Samples:

References:
- Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. "Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy". Thromb Res. 94:249-54. . (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Sardinia

Sample UID: SA000795V

Sample Description:This sample consists of unrelated and apparently healthy individuals. The individuals are from Sardinia, a region in the Isles of Italy. Subjects were considered from this region when all four grandparents were also from the same region. All individuals gave informed consent.

Number of Chromosomes: 152

Relation to Other Samples:

References:
- Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. "Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy". Thromb Res. 94:249-54. . (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian

Sample UID: SA001012E

Sample Description:This sample consists of unrelated Italians from 20 different regions in Italy.

Number of Chromosomes: 446

Relation to Other Samples:

References:
- Garofano L, Pizzamiglio M, Bizzaro GP, Donato F, Rossetti M, Budowle B. "Italian population data on two new short tandem repeat loci: D6S477 and D19S433". Forensic Sci Int 101:203-208. (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Ancona

Sample UID: SA001058O

Sample Description:This sample consists of healthy unrelated donors from the population of Ancona in central Italy. Blood samples were collected from each individual.

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Buscemi L, Tagliabracci A, Sassaroli C, Bianchi F, Canestrari S, Rodriguez D. "Polymerase chain reaction typing of D21S11 short tandem repeat polymorphism by capillary electrophoresis. Allele frequencies and sequencing data in a population sample from central Italy". Forensic Sci Int. 92:251-258. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA001069Q

Sample Description:This sample consists of healthy subjects who were randomly drawn from an unselected sample of subjects that were part of a study on aging done in the region of Calabria in southern Italy. Participants were screened and had neither Parkinson's disease nor dementia. All individuals were born before 1954 and gave his or her informed consent.

Number of Chromosomes: 404

Relation to Other Samples:

References:
- Oliveri RL, Annesi G, Zappia M, Civitelli D, De Marco EV, Pasqua AA, Annesi F, Spadafora P, Gambardella A, Nicoletti G, Branca D, Caracciolo M, Aguglia U, Quattrone A. "The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease". Mov Disord. 15:127-131. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Tuscany

Sample UID: SA001096Q

Sample Description:This sample consists of unrelated healthy individuals living in the area of Florence, Prato and Pistoia (Tuscany, Central Italy).

Number of Chromosomes: 376

Relation to Other Samples:

References:
- Ricci U, Sani I, Giunti L, Guarducci S, Coviello S, Giovannucci Uzielli ML. "Analysis of 13 tetrameric short tandem repeat loci in a population of Tuscany (Central Italy) performed by means of an automated infrared sequencer". Forensic Sci Int. 125:83-85. (2002) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian

Sample UID: SA001351K

Sample Description:This sample consists of unrelated , healthy individuals from Bologna (northern Italy ). The samples were collected from blood donors of the Haemotological Centre of the S.Orsola Hospital in Bologna , considering native individuals only.

Number of Chromosomes: 438

Relation to Other Samples:

References:
- Luiselli D, Maiolini E, Pelotti S, Bini C, Ferri G, Pappalardo G. "The HUMFIBRA (FGA) polymorphism in an italian population and a world-wide frequency distribution analysis.". Ann Hum Biol. 28:431-43. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Piedmont

Sample UID: SA001218M

Sample Description:This sample consists of unrelated Italians residing in Piedmont, a region in northwestern Italy.

Number of Chromosomes: 294

Relation to Other Samples:

References:
- Robino C, Gino S, Inturri S, Torre C. "Northwest Italian population data for thirteen tetrameric and two pentameric STR loci". J Forensic Sci. 49:405-406. (2004) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian

Sample UID: SA001298U

Sample Description:This sample consists of unrelated healthy Italian individuals.

Number of Chromosomes: 430

Relation to Other Samples:

References:
- De Leo D, Turrina S, Marigo M, Tiso N, Danieli GA. "Italian population data for D1S1656, D3S1358, D8S1132, D10S2325, VWA, FES/FPS, and F13A01". Forensic Sci Int. 123:71-73. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: North Italian

Sample UID: SA000837S

Sample Description:This sample consists of unrelated individuals from Northern Italy (Milano area).

Number of Chromosomes: 402

Relation to Other Samples:

References:
- Betti F, Giacomazzo B, Ghio F, Piccinini A. "North Italian population genetic data on the STR system HumFGA". Int J legal Med 110:110-111. (1997) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Bergamo, HGDP-CEPH

Sample UID: SA001506M

Sample Description:This sample from Italy is part of the Human Genome Diversity Cell Line Panel collected by the Human Genome Diversity Project (HGDP) and the Foundation Jean Dausset (CEPH). This sample consists of unrelated individuals and was collected with proper informed consent.

Number of Chromosomes: 28

Relation to Other Samples:

References:
- Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. "Genetic structure of human populations". Science 298:2381-2385. (2002) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Tuscan, HGDP-CEPH

Sample UID: SA001507N

Sample Description:This sample from Italy is part of the Human Genome Diversity Cell Line Panel collected by the Human Genome Diversity Project (HGDP) and the Foundation Jean Dausset (CEPH). This sample consists of unrelated individuals and was collected with proper informed consent.

Number of Chromosomes: 16

Relation to Other Samples:

References:
- Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. "Genetic structure of human populations". Science 298:2381-2385. (2002) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Piemonte

Sample UID: SA001761P

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Piemonte, Italy.

Number of Chromosomes: 394

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Lombardia

Sample UID: SA001762Q

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Lombardia, Italy.

Number of Chromosomes: 940

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Veneto

Sample UID: SA001763R

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Veneto, Italy.

Number of Chromosomes: 504

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Liguria

Sample UID: SA001764S

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Liguria, Italy.

Number of Chromosomes: 262

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Emilia-Romagna

Sample UID: SA001765T

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Emilia-Romagna, Italy.

Number of Chromosomes: 910

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Toscana

Sample UID: SA001766U

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Toscana, Italy.

Number of Chromosomes: 720

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Marche

Sample UID: SA001767V

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Marche, Italy.

Number of Chromosomes: 376

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Umbria

Sample UID: SA001768W

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Umbria, Italy.

Number of Chromosomes: 214

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Lazio

Sample UID: SA001769X

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Lazio, Italy.

Number of Chromosomes: 276

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Puglia

Sample UID: SA001770P

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Puglia, Italy.

Number of Chromosomes: 198

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Calabria

Sample UID: SA001771Q

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Calabria, Italy.

Number of Chromosomes: 320

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Sicilia

Sample UID: SA001772R

Sample Description:This sample consists of unrelated indiviuals of both sexes born in Sicilia, Italy.

Number of Chromosomes: 460

Relation to Other Samples:

References:
- Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, Tagliabracci A. "Validation of a large Italian Database of 15 STR loci". Forensic Sci Int. 156:266-268. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Continental Italy

Sample UID: SA001918T

Sample Description:This sample consists of healthy individuals from various parts of Continental Italy. They were collected in teh Divisione Clinicizzata di Malattie Infettive of the University of Verona.

Number of Chromosomes: 1096

Relation to Other Samples:

References:
- Battiloro E, Andreoni M, Parisi SG, Mura MS, Sotgiu G, Aceti A, Cossu G, Concia E, Verna R, D'Ambrosio E. "Distribution of the CCR5 delta32 allele in Italian HIV type 1-infected and normal individuals.". AIDS Res Hum Retroviruses. 16:181-2. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian (Milano)

Sample UID: SA001870Q

Sample Description:This sample consists of unrelated individuals from Milan, Italy.

Number of Chromosomes: 196

Relation to Other Samples:

References:
- Libert F, Cochaux P, Beckman G, Samson M, Aksenova M, Cao A, Czeizel A, Claustres M, de la Rua C, Ferrari M, Ferrec C, Glover G, Grinde B, Guran S, Kucinskas V, Lavinha J, Mercier B, Ogur G, Peltonen L, Rosatelli C, Schwartz M, Spitsyn V, Timar L, Beckman L, Parmentier M, Vassart G "The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe". Hum Mol Genet. 7:399-406.. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Southern Italy

Sample UID: SA001401G

Sample Description:This sample consists of healthy nonrelated volunteer donors living in southern Italy (Calabria).

Number of Chromosomes: 206

Relation to Other Samples:

References:
- Falcone E, Spadafora P, De Luca M, Ruffolo R, Brancati C, De Benedictis G. "DYS19, D12S67, and D1S80 polymorphisms in population samples from southern Italy and Greece". Hum Biol. 67:689-701. (1995) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Central Italy

Sample UID: SA001665S

Sample Description:This sample consists of individuals from Tocco da Causaria and Rome, central Italy.

Number of Chromosomes: 134

Relation to Other Samples:

References:
- Coelho M, Luiselli D, Bertorelle G, Lopes AI, Seixas S, Destro-Bisol G, Rocha J. "Microsatellite variation and evolution of human lactase persistence". Hum Genet. 117:329-339. (2005) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian

Sample UID: SA001820L

Sample Description:This sample consists of Caucasian Italian women residing in central Italy.

Number of Chromosomes: 222

Relation to Other Samples:

References:
- Coppede F, Marini G, Bargagna S, Stuppia L, Minichilli F, Fontana I, Colognato R, Astrea G, Palka G, Migliore L "Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women". Am J Med Genet A. 140:1083-91. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Toscani

Sample UID: SA002769Y

Sample Description:This sample consists of individuals from Toscani region, Italy. This sample was obtained from Coriell Institute for Medical Research (NIGMS Human Genetic cell Repository).

Number of Chromosomes: 172

Relation to Other Samples: Subset of 1000 genomes Toscani sample SA004057Q

References:
- Li H & Kidd KK "Low allele frequency of ADH1B*47His in West China and different ADH1B haplotypes in Western Asia from Eastern Asia". Am. J. Med. Genet. 84:92-94. (2009)


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA003779A

Sample Description:This sample consists of autochthonous, unrelated and healthy donors of both sexes from Italy who gave their informed consent.

Number of Chromosomes: 268

Relation to Other Samples:

References:
- Predazzi IM, Martínez-Labarga C, Vecchione L, Mango R, Ciccacci C, Amati F, Ottoni C, Crawford MH, Rickards O, Romeo F, Novelli G. "Population differences in allele frequencies at the OLR1 locus may suggest geographic disparities in cardiovascular risk events". Ann Hum Biol. 37:136-48. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA003562Q

Sample Description:This sample consists of healthy subjects from the Italian population. Each subject gave informed written consent which was approved by our ethical committee.

Number of Chromosomes: 236

Relation to Other Samples:

References:
- Paradossi U, Ciofini E, Clerico A, Botto N, Biagini A, Colombo MG. "Endothelial function and carotid intima-media thickness in young healthy subjects among endothelial nitric oxide synthase Glu298-->Asp and T-786-->C polymorphisms". Stroke 35:1305-9. (2004) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA003563R

Sample Description:This sample consists of healthy Italians from Florence, Italy. All the participants gave informed consent. The study complies with the Declaration of Helsinki and was approved by the local ethics committee of the Faculty of Medicine, University of Florence.

Number of Chromosomes: 2594

Relation to Other Samples:

References:
- Fatini C, Sofi F, Gori AM, Sticchi E, Marcucci R, Lenti M, Casini A, Surrenti C, Abbate R, Gensini GF. "Endothelial nitric oxide synthase -786T>C, but not 894G>T and 4a4b, polymorphism influences plasma homocysteine concentrations in persons with normal vitamin status". Clin Chem. 51:1159-64. (2005) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA003917U

Sample Description:This sample consists of Italian controls.

Number of Chromosomes: 228

Relation to Other Samples:

References:
- Ingelman-Sundberg M, Johansson I, Yin H, Terelius Y, Eliasson E, Clot P, Albano E. "Ethanol-inducible cytochrome P4502E1: genetic polymorphism, regulation, and possible role in the etiology of alcohol-induced liver disease". Alcohol. 10:447-52. (1993) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Aviano, Italy

Sample UID: SA002737T

Sample Description:This sample consists of participants from Aviano, Italy who were part of multicenter case-conrol study conducted from 2002-2005 in 12 centres from 8 European countries. This study is called ARCAGE (Alcohol-related Cancers and genetic susceptibility in Europe). All participants were interviewed with a structured questionnaire.

Number of Chromosomes: 280

Relation to Other Samples:

References:
- Hashibe M, McKay JD, Curado MP, Oliveira JC, Koifman S, Koifman R, Zaridze D, Shangina O, Wünsch-Filho V, Eluf-Neto J, Levi JE, Matos E, Lagiou P, Lagiou A, Benhamou S et.al. "Multiple ADH genes are associated with upper aerodigestive cancers". Nat Genet. 40:707-9. (2008) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Padova, Italy

Sample UID: SA002738U

Sample Description:This sample consists of participants from Padova, Italy who were part of multicenter case-conrol study conducted from 2002-2005 in 12 centres from 8 European countries. This study is called ARCAGE (Alcohol-related Cancers and genetic susceptibility in Europe). All participants were interviewed with a structured questionnaire.

Number of Chromosomes: 236

Relation to Other Samples:

References:
- Hashibe M, McKay JD, Curado MP, Oliveira JC, Koifman S, Koifman R, Zaridze D, Shangina O, Wünsch-Filho V, Eluf-Neto J, Levi JE, Matos E, Lagiou P, Lagiou A, Benhamou S et.al. "Multiple ADH genes are associated with upper aerodigestive cancers". Nat Genet. 40:707-9. (2008) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Torino, Italy

Sample UID: SA002739V

Sample Description:This sample consists of participants from Torino, Italy who were part of multicenter case-conrol study conducted from 2002-2005 in 12 centres from 8 European countries. This study is called ARCAGE (Alcohol-related Cancers and genetic susceptibility in Europe). All participants were interviewed with a structured questionnaire.

Number of Chromosomes: 356

Relation to Other Samples:

References:
- Hashibe M, McKay JD, Curado MP, Oliveira JC, Koifman S, Koifman R, Zaridze D, Shangina O, Wünsch-Filho V, Eluf-Neto J, Levi JE, Matos E, Lagiou P, Lagiou A, Benhamou S et.al. "Multiple ADH genes are associated with upper aerodigestive cancers". Nat Genet. 40:707-9. (2008) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian

Sample UID: SA003049Q

Sample Description:This sample consists of healthy subjects from Calabria, Italy. All the subjects gave informed consent for the study.

Number of Chromosomes: 96

Relation to Other Samples:

References:
- Pepe G, Camacho Vanegas O, Giusti B, Brunelli T, Marcucci R, Attanasio M, Rickards O, De Stefano GF, Prisco D, Gensini GF, Abbate R. "Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase". Am J Hum Genet. 63:917-20. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA003469W

Sample Description:This sample consists of unrelated Italians from Italy.

Number of Chromosomes: 1360

Relation to Other Samples:

References:
- Giardina E, Predazzi I, Pietrangeli I, Asili P, Marsala P, Gabriele L, Pipolo C, Ricci O, Martone C, Spinella A, Novelli G. "Frequency assessment of SNPs for forensic identification in different populations". Forensic Sci Int Genet. 1:e1-3. (2007) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italy

Sample UID: SA002466S

Sample Description:This sample consists of unrelated individuals from North Italy.

Number of Chromosomes: 124

Relation to Other Samples:

References:
- Lucotte G, Mercier G. "Distribution of the CCR5 gene 32-bp deletion in Europe". J Acquir Immune Defic Syndr Hum Retrovirol. 19:174-7. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italy

Sample UID: SA002409P

Sample Description:This sample consists of individuals from Sardina, Italy.

Number of Chromosomes: 482

Relation to Other Samples:

References:
- Magierowska M, Lepage V, Boubnova L, Carcassi C, de Juan D, Djoulah S, El Chenawi F, Grunnet N, Hallé L, Ivanova R, Jungerman M, Naumova E, Petrany G, Sonnerborg A, Stavropoulos C, Thorsby E, Vu-Trieu A, Debré P, Theodorou I, Charron D "Distribution of the CCR5 gene 32 base pair deletion and SDF1-3'A variant in healthy individuals from different populations". Immunogenetics. 48:417-9. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian-South

Sample UID: SA002058P

Sample Description:This sample consists of Italians from Southern Italy. This sample is a subset of SA000125I.

Number of Chromosomes: 58

Relation to Other Samples: Subset of SA000125I

References:
- Harvey CB, Hollox EJ, Poulter M, Wang Y, Rossi M, Auricchio S, Iqbal TH, Cooper BT, Barton R, Sarner M, Korpela R, Swallow DM. "Lactase haplotype frequencies in Caucasians: association with the lactase persistence/non-persistence polymorphism". Ann Hum Genet 62:215-23. (1998) Online citation.

- Ingram CJ, Elamin MF, Mulcare CA, Weale ME, Tarekegn A, Raga TO, Bekele E, Elamin FM, Thomas MG, Bradman N, Swallow DM. "A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?". Hum Genet. 120:779-788. (2007) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian

Sample UID: SA002400G

Sample Description:This sample consists of Italians. Informed consent was obtained from the subjects.

Number of Chromosomes: 74

Relation to Other Samples:

References:
- Su B, Jin L, Hu F, Xiao J, Luo J, Lu D, Zhang W, Chu J, Du R, Geng Z, Qiu X, Xue J, Tan J, O'Brien SJ, Chakraborty R "Distribution of two HIV-1-resistant polymorphisms (SDF1-3'A and CCR2-64I) in East Asian and world populations and its implication in AIDS epidemiology". Am J Hum Genet. 65:1047-53. (1999) Online citation.

- Su B, Sun G, Lu D, Xiao J, Hu F, Chakraborty R, Deka R, Jin L "Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3'A, CCR2-641, and CCR5-delta32) in global populations". Eur J Hum Genet. 8:975-9. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian

Sample UID: SA002490P

Sample Description:This sample consists of Italians.

Number of Chromosomes: 344

Relation to Other Samples:

References:
- Stephens JC, Reich DE, Goldstein DB, Shin HD, Smith MW et.al. "Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes". Am J Hum Genet. 62:1507-15. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA003118N

Sample Description:This sample consists of healthy volunteers from the rural area around the village of Troina in the northeastern part of Sicily. These volunteers attended the medical center in Troina for preventive care.

Number of Chromosomes: 292

Relation to Other Samples:

References:
- Guéant-Rodriguez RM, Guéant JL, Debard R, Thirion S, Hong LX, Bronowicki JP, Namour F, Chabi NW, Sanni A, Anello G, Bosco P, Romano C, Amouzou E, Arrieta HR, Sánchez BE, Romano A, Herbeth B, Guilland JC, Mutchinick OM "Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populations". Am J Clin Nutr. 83:701-7. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian - (Bergamo, HGDP-CEPH)

Sample UID: SA002255O

Sample Description:This sample from Italy is part of the Human Genome Diversity Cell Line Panel collected by the Human Genome Diversity Project (HGDP) and the Foundation Jean Dausset (CEPH). This sample consists of unrelated individuals and was collected with proper informed consent.

This sample is known as dataset "H1048" and is a subset of SA001506M.

Note: In many publications subset H952 of the HGDP panel (with first and second degree relatives excluded from the original set) was typed and for this population that does not affect the sample size.

Number of Chromosomes: 26

Relation to Other Samples: Subset of SA001506M

References:
- Rosenberg NA. "Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives.". Ann Hum Genet. 70:841-847. (2006) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian (Northern Italy)

Sample UID: SA003004H

Sample Description:This sample consists of Italians from Northern Italy. This sample consists of healthy subjects attending the hospitals to donate blood. Informed consent was obtained from all individuals.

Number of Chromosomes: 408

Relation to Other Samples:

References:
- Scacchi R, Pinto A, Rickards O, Pacella A, De Stefano GF, Cannella C, Corbo RM. "An analysis of peroxisome proliferator-activated receptor gamma (PPAR-gamma 2) Pro12Ala polymorphism distribution and prevalence of type 2 diabetes mellitus (T2DM) in world populations in relation to dietary habits". Nutr Metab Cardiovasc Dis. 17:632-41. (2007) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian (Central Italy)

Sample UID: SA003005I

Sample Description:This sample consists of Italians from Central Italy. This sample consists of healthy subjects attending the hospitals to donate blood. Informed consent was obtained from all individuals.

Number of Chromosomes: 422

Relation to Other Samples:

References:
- Scacchi R, Pinto A, Rickards O, Pacella A, De Stefano GF, Cannella C, Corbo RM. "An analysis of peroxisome proliferator-activated receptor gamma (PPAR-gamma 2) Pro12Ala polymorphism distribution and prevalence of type 2 diabetes mellitus (T2DM) in world populations in relation to dietary habits". Nutr Metab Cardiovasc Dis. 17:632-41. (2007) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian (Southern Italy)

Sample UID: SA003006J

Sample Description:This sample consists of Italians from Southern Italy. This sample consists of healthy subjects attending the hospitals to donate blood. Informed consent was obtained from all individuals.

Number of Chromosomes: 788

Relation to Other Samples:

References:
- Scacchi R, Pinto A, Rickards O, Pacella A, De Stefano GF, Cannella C, Corbo RM. "An analysis of peroxisome proliferator-activated receptor gamma (PPAR-gamma 2) Pro12Ala polymorphism distribution and prevalence of type 2 diabetes mellitus (T2DM) in world populations in relation to dietary habits". Nutr Metab Cardiovasc Dis. 17:632-41. (2007) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italian (Sardinia Island)

Sample UID: SA003007K

Sample Description:This sample consists of Italians from Sardinia Island. This sample consists of healthy subjects attending the hospitals to donate blood. Informed consent was obtained from all individuals.

Number of Chromosomes: 304

Relation to Other Samples:

References:
- Scacchi R, Pinto A, Rickards O, Pacella A, De Stefano GF, Cannella C, Corbo RM. "An analysis of peroxisome proliferator-activated receptor gamma (PPAR-gamma 2) Pro12Ala polymorphism distribution and prevalence of type 2 diabetes mellitus (T2DM) in world populations in relation to dietary habits". Nutr Metab Cardiovasc Dis. 17:632-41. (2007) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA003255P

Sample Description:This sample consists of Italians from Central Italy.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 834

Relation to Other Samples:

References:
- Corbo RM, Scacchi R, Mureddu L, Mulas G, Alfano G. "Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrylamide gel isoelectric focusing technique. Comparison with frequency data of other European populations". Ann Hum Genet. 59:197-209. (1995) Online citation.

- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA003256Q

Sample Description:This sample consists of Italians from Sicily, Calabria & Lucania.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 230

Relation to Other Samples:

References:
- Corbo RM, Scacchi R, Mureddu L, Mulas G, Alfano G. "Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrylamide gel isoelectric focusing technique. Comparison with frequency data of other European populations". Ann Hum Genet. 59:197-209. (1995) Online citation.

- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italy

Sample UID: SA002517P

Sample Description:This sample consists of unrelated individuals from Italy. This sample was collected as part of anthropological surveys of investigation of non-HIV related medical conditions.

Number of Chromosomes: 182

Relation to Other Samples:

References:
- Martinson JJ, Chapman NH, Rees DC, Liu YT, Clegg JB. "Global distribution of the CCR5 gene 32-basepair deletion". Nat Genet 16:100-103. (1997) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Campania

Sample UID: SA003280N

Sample Description:This sample consists of Italians from Campania, Italy.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 314

Relation to Other Samples:

References:
- Corbo RM, Scacchi R, Mureddu L, Mulas G, Alfano G. "Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrylamide gel isoelectric focusing technique. Comparison with frequency data of other European populations". Ann Hum Genet. 59:197-209. (1995) Online citation.

- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Pulgia

Sample UID: SA003281O

Sample Description:This sample consists of Italians from Pulgia, Italy.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 314

Relation to Other Samples:

References:
- Corbo RM, Scacchi R, Mureddu L, Mulas G, Alfano G. "Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrylamide gel isoelectric focusing technique. Comparison with frequency data of other European populations". Ann Hum Genet. 59:197-209. (1995) Online citation.

- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Ancona

Sample UID: SA003312J

Sample Description:This sample consists of Italians.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 730

Relation to Other Samples:

References:
- Boemi M, James RW, Romagnoli F, Gerber P, Pometta D, Fumelli P. "Gender differences in a type 2 (non-insulin-dependent) diabetic population with respect to apolipoprotein E phenotype frequencies". Diabetologia. 36:229-33. (1993) Online citation.

- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Rome

Sample UID: SA003324M

Sample Description:This sample consists of Italians.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 796

Relation to Other Samples:

References:
- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.

- Margaglione M, Seripa D, Gravina C, Grandone E, Vecchione G, Cappucci G, Merla G, Papa S, Postiglione A, Di Minno G, Fazio VM "Prevalence of apolipoprotein E alleles in healthy subjects and survivors of ischemic stroke: an Italian Case-Control Study". Stroke. 29:399-403.. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Milan

Sample UID: SA003327P

Sample Description:This sample consists of Italian individuals.

Note: This sample information is not fully curated. For additional information about the sample, consult the publications under "References". The sample was entered as part of data submission by Eisenberg DA.

Number of Chromosomes: 456

Relation to Other Samples:

References:
- Eisenberg DA, Kuzawa, CW, Hayes MG "Worldwide allele frequencies of the human apolipoprotein E (APOE) gene: climate, local adaptations and evolutionary history". American Journal of Physical Anthropology 143:100-11. (2010) Online citation.

- Ruiu G, Cassader M, Gambino R, Alemanno N, Demichieli F, Pagano A, Veglia F, Pagano G. "Apolipoprotein E allele frequencies in an Italian population: relation to age and lipid profile". Aging (Milano). 7:185-9.. (1995) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Toscani (TSI)

Sample UID: SA003385T

Sample Description:This sample consists of Toscani individuals near Florence in the Tuscany region of Italy. All of the samples are from unrelated individuals who identified themselves as having at least three out of four Tuscan grandparents.

Note: The allele frequencies linked to this sample were based on calculation from Hapmap project website.

Number of Chromosomes: 176

Relation to Other Samples:

References:
- International HapMap Consortium, Frazer KA, Ballinger DG, et al. "A second generation human haplotype map of over 3.1 million SNPs.". Nature. 449:851-61.. (2007) Online citation.

- The International HapMap Consortium. "The International HapMap Project.". Nature. 426:789-96. (2003) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians (Reggio Calabria)

Sample UID: SA003446R

Sample Description:This sample consists of unrelated healthy individuals from Reggio Calabia (South), Italy.

Number of Chromosomes: 66

Relation to Other Samples:

References:
- Barbaro A, Phillips C, Fondevila M, Carracedo A, Lareu MV "Population data of 52 autosomal SNPs in Italian population". Forensic Science International: Genetics Supplement series 1:351-352. (2009)


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians (Veneto)

Sample UID: SA003447S

Sample Description:This sample consists of unrelated Italians from Veneto, Italy (North).

Number of Chromosomes: 60

Relation to Other Samples:

References:
- Barbaro A, Phillips C, Fondevila M, Carracedo A, Lareu MV "Population data of 52 autosomal SNPs in Italian population". Forensic Science International: Genetics Supplement series 1:351-352. (2009)


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italy, Sicily

Sample UID: SA002695W

Sample Description:This sample consists of specimens that were taken from consecutive newborns from the newborn screening programme in south east Sicily. Specimens consisted of the remainder of blood spots used by the newborn screening programme. This study was conducted under the auspices of the International Clearinghouse for Birth Defect Monitoring Systems (ICBDMS) and was coordinated through its head office, the International Center on Birth Defects. Local review boards approved the study.In all cases personal identifiers were removed before data were provided to ICBD for epidemiological analysis.

Number of Chromosomes: 936

Relation to Other Samples:

References:
- Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, López MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martínez-Frías ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. "Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide". J Med Genet. 40:619-25.. (2003) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italy, Campania

Sample UID: SA002696X

Sample Description:This sample consists of specimens taken from Consecutive newborns at three hospitals in Campana (two in Avellino, one in Benevento). Specimens consisted of the remainder of blood spots used by the newborn screening programme. This study was conducted under the auspices of the International Clearinghouse for Birth Defect Monitoring Systems (ICBDMS) and was coordinated through its head office, the International Center on Birth Defects. Local review boards approved the study.In all cases personal identifiers were removed before data were provided to ICBD for epidemiological analysis.

Number of Chromosomes: 1000

Relation to Other Samples:

References:
- Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, López MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martínez-Frías ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. "Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide". J Med Genet. 40:619-25.. (2003) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italy, Veneto

Sample UID: SA002697Y

Sample Description:This sample consists of specimens from consecutive newborns of italian whites at one hospital outside the town of Vicenza. Specimens consisted of the remainder of blood spots used by the newborn screening programme. This study was conducted under the auspices of the International Clearinghouse for Birth Defect Monitoring Systems (ICBDMS) and was coordinated through its head office, the International Center on Birth Defects. Local review boards approved the study.In all cases personal identifiers were removed before data were provided to ICBD for epidemiological analysis.

Number of Chromosomes: 770

Relation to Other Samples:

References:
- Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, López MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martínez-Frías ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD. "Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide". J Med Genet. 40:619-25.. (2003) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Tuscans

Sample UID: SA003739W

Sample Description:This sample consists of Tuscans. This sample is part of International Hapmap project and were purchased from the Coriell Cell Repositories.

Number of Chromosomes: 50

Relation to Other Samples: Subset of SA003385T

References:
- Xing J, Watkins WS, Shlien A, Walker E, Huff CD, Witherspoon DJ, Zhang Y, Simonson TS, Weiss RB, Schiffman JD, Malkin D, Woodward SR, Jorde LB. "Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping". Genomics 96:199-210. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Sicily

Sample UID: SA004544R

Sample Description:This sample consists of italian individuals from Sicily. This sample was typed as part of the collaborative exercise by the participating laboratory as part of the International Society for Forensic Genetics (GHEP-ISFG) working commission on autosomal indels for human identification. This study was approved by vote at the GHEP-ISFG general meeting and complies with the ethical principles of the 2000 Helsinki Declaration of the World Medical Association. The samples used in this collaborative exercise were anonymised DNA extracts previously obtained from healthy unrelated individuals who consented to participate in this study under strictly confidential conditions.

Number of Chromosomes: 226

Relation to Other Samples:

References:
- Pereira R, Alves C, Aler M, Amorim A, ArAvalo C, Betancor E, Braganholi D, Bravo ML, Brito P, Builes JJ, Burgos G, Carvalho EF, Castillo A, Catanesi CI, Cicarelli RMB, Coufalova P, Dario P, D'Amato ME, Davison S, Ferragut J, Fondevila M, Furfuro S, Garcia O, Gaviria A, Gomes I, Gonzalez E, Gonzalez-Linan A, Gross TE, Hernanndez A, Huang Q, Jimenez S, Jobim LF, Lopez-Parra AM, Marino M, Marques S, Marti­nez-Cortes G, Masciovecchio V, Parra D, Penacino G, Pinheiro MF, Porto M, Posada Y, Restrepo C, Ribeiro T, Rubio L, Sala A, Santurtun A, Soli­s LS, Souto L, Streitemberger E, Torres A, Vilela-Lamego C, Yunis JJ, Yurrebaso I, Gusmao L. "A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations". Forensic Sci Int Genet. 32:18-25. (2017) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA004066Q

Sample Description:This sample consists of unrelated healthy individuals (122 males and 78 females) living in North-East Italy. All persons gave their informed consent prior to their inclusion in the study.

Number of Chromosomes: 400

Relation to Other Samples:

References:
- Turrina S, Filippini G, De Leo D "Forensic evaluation of the Investigator DIPplex typing system". Forensic Science International:Genetics Supplement Series 3:e331-e332. (2011)


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA003994Z

Sample Description:This sample consists of healthy Italian control subjects.

Number of Chromosomes: 412

Relation to Other Samples:

References:
- Salvatore M, Genuardi M, Petraroli R, Masullo C, D'Alessandro M, Pocchiari M. "Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease". Hum Genet. 94:375-9. (1994) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Verona

Sample UID: SA004042K

Sample Description:This sample consists of individuals from Verona, Italy . This sample is part of the EUREYE(European Eye Study). The EUREYE Study is multicenter, population-based cross-sectional study from 7 study centers, Bergen, Norway; Tallinn, Estonia; Belfast, Northern Ireland, United Kingdom; Paris-Creteil, France; Verona, Italy; Thessaloniki, Greece; and Alicante, Spain. were chosen primarily to maximize the range of latitude and lifestyle behaviors, including diet.

Number of Chromosomes: 1084

Relation to Other Samples:

References:
- Walsh S, Wollstein A, Liu F, Chakravarthy U, Rahu M, Seland JH, Soubrane G, Tomazzoli L, Topouzis F, Vingerling JR, Vioque J, Fletcher AE, Ballantyne KN, Kayser "DNA-based eye colour prediction across Europe with the IrisPlex system". Forensic Sci Int Genet. (Epub, ahead of print) (2011) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Bergamo(ber)

Sample UID: SA004195T

Sample Description:This sample consists of Italian men from Bergamo.

Number of Chromosomes: 164

Relation to Other Samples:

References:
- Pimenoff VN, Laval G, Comas D, Palo JU, Gut I, Cann H, Excoffier L, Sajantila A. "Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates". Pharmacogenet Genomics. 22:846-857. (2012) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Piedmont(pie)

Sample UID: SA004201H

Sample Description:This sample consists of Italians from Piedmont.

Number of Chromosomes: 108

Relation to Other Samples:

References:
- Pimenoff VN, Laval G, Comas D, Palo JU, Gut I, Cann H, Excoffier L, Sajantila A. "Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates". Pharmacogenet Genomics. 22:846-857. (2012) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Toscani in Italia (TSI)

Sample UID: SA004057Q

Sample Description:This sample iscollected in a small town near Florence in the Tuscany region of Italy. All of the samples are from unrelated individuals who identified themselves as having at least three out of four Tuscan grandparents.

This sample is part of the 1000 Genomes collections.

Number of Chromosomes: 214

Relation to Other Samples: Superset of SA003385T

References:
- 1000 genomes phase1 samples data Online citation.

- 1000genomes project samples page Online citation.

- Bulbul O, Filoglu G, Altuncul H, Aradas AF, Ruiz Y, Fondevila M, Phillips C, Carracedo A, Kriegel AK, Schneider PM "A SNP multiplex for the simulataneous prediction of biogeographic ancestry and pigmentaion type". Forensic science International:Genetics Supplement Series 3 e500-501. (2011)


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italians

Sample UID: SA004114K

Sample Description:This sample consists of Italians from the north of Italy (Veneto) and south of Italy (Calabria).

Number of Chromosomes: 400

Relation to Other Samples:

References:
- Barbaro A, Phillips C, Fondevila M, Lareu M, Carracedo A. "Genetic variability of the SNPforID 52-plex identification SNP panel in Italian population samples". Forensic Sci Int Genet. (Epub, ahead of print) (2012) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Milan

Sample UID: SA004005J

Sample Description:This sample consists of Italians from Milan,Italy.

Number of Chromosomes: 186

Relation to Other Samples:

References:
- Mercier G, Diéterlen F, Lucotte G. "Population distribution of the methionine allele at the PRNP codon 129 polymorphism in Europe and the Middle East". Hum Biol. 80:181-90. (2008) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Genoa

Sample UID: SA004006K

Sample Description:This sample consists of Italians from Genoa, Italy.

Number of Chromosomes: 384

Relation to Other Samples:

References:
- Mercier G, Diéterlen F, Lucotte G. "Population distribution of the methionine allele at the PRNP codon 129 polymorphism in Europe and the Middle East". Hum Biol. 80:181-90. (2008) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Naples

Sample UID: SA004007L

Sample Description:This sample consists of Italians from Naples, Italy.

Number of Chromosomes: 494

Relation to Other Samples:

References:
- Mercier G, Diéterlen F, Lucotte G. "Population distribution of the methionine allele at the PRNP codon 129 polymorphism in Europe and the Middle East". Hum Biol. 80:181-90. (2008) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Italy

Sample UID: SA004116M

Sample Description:This sample is part of the EPIC study and consists of healthy men and women from Italy.

The European Prospective Investigation into Cancer and Nutrition (EPIC) is an ongoing multi-centre prospective cohort study designed to investigate the relationship between nutrition and cancer, with the potential for studying other diseases as well. The study includes participants in 23 centres located in 10 European countries.

Number of Chromosomes: 216

Relation to Other Samples:

References:
- Riboli E, Hunt KJ, Slimani N, Ferrari P, Norat T, Fahey M, Charrondière UR, Hémon B, Casagrande C, Vignat J, Overvad K et al. "European Prospective Investigation into Cancer and Nutrition (EPIC): study populations and data collection". Public Health Nutr 5:1113-24. (2002) Online citation.

- Travis RC, Appleby PN, Siddiq A, Allen NE, Kaaks R, Canzian F, Feller S, Tjønneland A, Johnsen NF, Overvad K, Quirós JR, et al. "Genetic variation in the lactase gene, dairy product intake and risk for prostate cancer in the European prospective investigation into cancer and nutrition". Int J Cancer (Epub, ahead of print) (2012) Online citation.


1Geographic Coordinates represent two opposite corners of a rectangle encompassing the area where the population lives.This data is preliminary and changing.

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© 2019 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan