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
SpaniardsPO000321GSPANISHIndo-European

Synonyms:
Geographic Location1:  44N, 9.75W; 36N, 4E  

Sites typed for this population: View List
Population Samples: See Sample Information
External Resources:  World Fact Book Record    Ethnologue: Language Map Record    Ethnologue: Language Description Record    
References: See references
Population Description: Spain is a Constitutional Monarchy in southwestern Europe that occupies a large part of the Iberian Peninsula. The Spanish people are basically a composite of Mediterranean and Nordic groups. The groups include both the indigenous people of the Iberian Peninsula (Castilian, Basque, Catalan and Galician) as well as a mixture of groups who have conquered Spain throughout the country's history (such as the Romans, Suevi, Vandals, and Visigoths). The vast majority of the population is Roman Catholic and speaks Castilian Spanish, a language in the Indo-European linguistic family. There are regions in Spain where the indigenous groups have not amalgamated into the mainstream culture, keeping unique cultural and linguistic identities. The population of Spain was 40,037,995 as of July 2001 (The World Fact Book).
References:


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spanish

Sample UID: SA000891S

Sample Description:This sample consists of individuals residing in North Spain (Galicia, Asturias, Cantabria, Pais Vasco, La Rioja, Aragon, and Cataluna), in Central Spain (Madrid, Castilla La Mancha, Castilla Leon, and Extremadura), and in Eastern Spain (Valencia and Murcia).

Number of Chromosomes: 450

Relation to Other Samples:

References:
- Martin P, Garcia O, Albarran C, Sancho M, Alonso A. "A Spanish population study of the STR loci HumLPL, D5S818, D7S820 and D13S317". Int J Legal Med 112:70-71. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Aragon

Sample UID: SA000907Q

Sample Description:This sample consists of healthy unrelated individuals born and living in Aragon (North Spain).

Number of Chromosomes: 104

Relation to Other Samples:

References:
- Nievas P, Martinez-Jarreta B, Abecia E, Lareu MV. "Fluorescence-based amplification of the STR loci D18S535, D1S1656 and D12S391 in a population sample from Aragon (north Spain)". Int J Legal Med 113:58-59. (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spanish

Sample UID: SA000912M

Sample Description:This sample consists of individuals residing predominantly in the following geographical areas of Spain: communities of Madrid, Castilla-La Mancha, and Castilla-Leon (Central Spain), Galicia and Pais Vasco (North Spain), and the community of Valencia (Eastern Spain).

Number of Chromosomes: 438

Relation to Other Samples:

References:
- Martin P, Garcia O, Albarran C, Garcia P, Sancho M, Alonso A. "Spanish population data on the four STR loci D8S1179, D16S539, D18S51 and D21S11". Int J Legal Med 112:340-341. (1999) Online citation.


Sample Information:

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Sample Name: South of Aragon

Sample UID: SA001014G

Sample Description:This sample consists of unrelated individuals living South of Aragon, Spain.

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Martinez Jarreta B, Diaz Roche P, Abecia E. "Genetic variation at six STR loci (HUMTH01, HUMTPOX, HUMCSF1PO, HUMF13A01, HUMFES/FPS, HUMVWFA31) in Aragon (north Spain)". Forensic Sci Int 100:87-92. (1999) Online citation.


Sample Information:

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Sample Name: North of Aragon

Sample UID: SA001015H

Sample Description:This sample consists of unrelated individuals living North of Aragon, Spain.

Number of Chromosomes: 300

Relation to Other Samples:

References:
- Martinez Jarreta B, Diaz Roche P, Abecia E. "Genetic variation at six STR loci (HUMTH01, HUMTPOX, HUMCSF1PO, HUMF13A01, HUMFES/FPS, HUMVWFA31) in Aragon (north Spain)". Forensic Sci Int 100:87-92. (1999) Online citation.


Sample Information:

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Sample Name: Asturias

Sample UID: SA001032G

Sample Description:This sample consists of unrelated individuals born and living in the autonomous community of Asturias in Northern Spain.

Number of Chromosomes: 300

Relation to Other Samples:

References:
- Bell B, Nievas P, Abecia E, Martinez-Jarreta B, Hinojal R, Martinez-Cordero A. "Population genetics of the STR loci HUMCSF1PO, HUMF13A01, HUMFES/FPS and D12S391 in Asturias (northern Spain)". Forensic Sci Int. 113:21-23. (2000)


Sample Information:

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Sample Name: Valencia

Sample UID: SA001044J

Sample Description:This sample consists of unrelated healthy individuals from Valencia, Spain (East Mediterranean coast of the Iberian Peninsula).

Number of Chromosomes: 642

Relation to Other Samples:

References:
- Aler M, Salas A, Gisbert M, Carracedo A. "Data for nine autosomal STRs markers from Valencia (East Mediterranean coast of the Iberian Peninsula)". Forensic Sci Int. 116:37-39. (2001) Online citation.


Sample Information:

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Sample Name: Spanish

Sample UID: SA001074M

Sample Description:This sample consists of Spanish Caucasian individuals from Andalucia in southern Spain.

Number of Chromosomes: 240

Relation to Other Samples:

References:
- Lorente M, Lorente JA, Wilson MR, Budowle B, Villanueva E. "Spanish population data on seven loci: D1S80, D17S5, HUMTH01, HUMVWA, ACTBP2, D21S11 and HLA-DQA1". Forensic Sci Int. 86:163-171. (1997) Online citation.


Sample Information:

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Sample Name: Aragon

Sample UID: SA001309N

Sample Description:This sample consists of healthy unrelated individuals from the Aragon area, North-East Spain.

Number of Chromosomes: 244

Relation to Other Samples:

References:
- Martinez-Jarreta B, Bolea M, Castellano M, Hinojal R, Abecia E. "Distribution of HLA DQ A1 alleles and genotypes in two Spanish populations (Aragon and Asturias)". Forensic Sci Int. 81:185-190. (1996) Online citation.


Sample Information:

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Sample Name: Asturias

Sample UID: SA001310F

Sample Description:This sample consists of healthy unrelated individuals from the Asturias area, North-West Spain.

Number of Chromosomes: 388

Relation to Other Samples:

References:
- Martinez-Jarreta B, Bolea M, Castellano M, Hinojal R, Abecia E. "Distribution of HLA DQ A1 alleles and genotypes in two Spanish populations (Aragon and Asturias)". Forensic Sci Int. 81:185-190. (1996) Online citation.


Sample Information:

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Sample Name: Majorca

Sample UID: SA001283O

Sample Description:This sample consists of unrelated individuals from the island of Majorca. Majorca is an island of Spain.

Number of Chromosomes: 206

Relation to Other Samples:

References:
- Tomas C, Picornell A, Castro JA, Misericordia M. "STR data for the AmpFlSTR profiler plus loci from Majorcan, Minorcan and Valencian populations (Eastern Spain)". Forensic Sci Int. 121:201-4. (2001) Online citation.


Sample Information:

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Sample Name: Minorca

Sample UID: SA001284P

Sample Description:This sample consists of unrelated individuals from the island of Minorca. Minorca is an island of Spain.

Number of Chromosomes: 200

Relation to Other Samples:

References:
- Tomas C, Picornell A, Castro JA, Misericordia M. "STR data for the AmpFlSTR profiler plus loci from Majorcan, Minorcan and Valencian populations (Eastern Spain)". Forensic Sci Int. 121:201-4. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Valencia

Sample UID: SA001285Q

Sample Description:This sample consists of unrelated individuals from Valencia, a city in eastern Spain.

Number of Chromosomes: 202

Relation to Other Samples:

References:
- Tomas C, Picornell A, Castro JA, Misericordia M. "STR data for the AmpFlSTR profiler plus loci from Majorcan, Minorcan and Valencian populations (Eastern Spain)". Forensic Sci Int. 121:201-4. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Balearic

Sample UID: SA001349R

Sample Description:This sample consists of unrelated individuals from the Majorca and Minorca Islands, off the coast of Spain.

Number of Chromosomes: 226

Relation to Other Samples:

References:
- Tomas C, Picornell A, Castro JA, Ramon MM, Gusmao L, Lareu MV, Carracedo A. "Genetic variability at nine STR loci in the Chueta (Majorcan Jews) and the Balearic populations investigated by a single multiplex reaction". Int J Legal Med. 113:263-267. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Cantabria

Sample UID: SA001281M

Sample Description:This sample consists of unrelated individuals living in different areas of Cantabria, a mountainous region in northern Spain with a population of about 500,000.

Number of Chromosomes: 316

Relation to Other Samples:

References:
- Zarrabeitia MT, Riancho JA. "Population data on nine STRs from Cantabria, a mountainous region in northern Spain". Forensic Sci Int. 122:175-177. (2001) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Chueta

Sample UID: SA001348Q

Sample Description:This sample consists of unrelated idividuals from the Chueta community. The Chueta community consists of Majorcan Jews located in the Balearic Islands, Spain.

Number of Chromosomes: 204

Relation to Other Samples:

References:
- Tomas C, Picornell A, Castro JA, Ramon MM, Gusmao L, Lareu MV, Carracedo A. "Genetic variability at nine STR loci in the Chueta (Majorcan Jews) and the Balearic populations investigated by a single multiplex reaction". Int J Legal Med. 113:263-267. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Murcia

Sample UID: SA001280L

Sample Description:This sample consists of unrelated healthy individuals from the Murcia region in southeastern Spain.

Number of Chromosomes: 228

Relation to Other Samples:

References:
- Torio A, Moya-Quiles MR, Luna A, Alvarez-Lopez MR. "STR data for the AmpFlSTR Profiler Plus loci from Murcia region (SE Spain)". Forensic Sci Int. 129:140-141. (2002) Online citation.


Sample Information:

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Sample Name: Spanish

Sample UID: SA000817Q

Sample Description:This sample consists of healthy men and women of Spanish origin. Spanish origin was based on the birthplace of their grandparents. Written informed consent was obtained.

Number of Chromosomes: 226

Relation to Other Samples:

References:
- Gutierrez B, Bertranpetit J, Guillamat R, Valles V, Arranz MJ, Kerwin R, Fananas L. "Association analysis of the catechol O-methyltransferase gene and bipolar affective disorder. ". Am J Psychiatry 154:113-5. . (1997) Online citation.


Sample Information:

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Sample Name: Spanish

Sample UID: SA000852P

Sample Description:This sample consists of unrelated healthy individuals from the general population, ascertained from blood bank donors.

Number of Chromosomes: 790

Relation to Other Samples:

References:
- Ng MC, Wang Y, So WY, Cheng S, Visvikis S, Zee RY, Fernandez-Cruz A, Lindpaintner K, Chan JC. "Ethnic differences in the linkage disequilibrium and distribution of single-nucleotide polymorphisms in 35 candidate genes for cardiovascular diseases". Genomics 83: 559-65. (2004) Online citation.


Sample Information:

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Sample Name: Spanish

Sample UID: SA000879Y

Sample Description:This sample consists of unrelated Caucasian individuals living in the North of Spain.

Number of Chromosomes: 584

Relation to Other Samples:

References:
- Crespillo M, Luque JA, Fernandez R, Ramirez E, Garcia P, Valverde JL "Allele frequency distributions of 13 PCR-based systems in a population from North-East Spain.". Int J Legal Med 110:223-225. (1997) Online citation.


Sample Information:

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Sample Name: Zaragoza

Sample UID: SA001406L

Sample Description:This sample consists of healthy unrelated individuals from Zaragoza (Northern Spain).

Number of Chromosomes: 402

Relation to Other Samples:

References:
- Martinez-Jarreta B, Budowle B, Abecia E, Bell B, Casalod Y, Castellano M "PM and D1S80 loci gene frequencies in the Zaragoza population of northern Spain.". J Forensic Sci 43:1094-6.. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spanish

Sample UID: SA001680P

Sample Description:This sample consists of Spanish individuals colleced in Valencia, Eastern Spain.

Number of Chromosomes: 40

Relation to Other Samples:

References:
- Shriver MD, Mei R, Parra EJ, Sonpar V, Halder I, Tishkoff SA, Schurr TG, Zhadanov SI, Osipova LP, Brutsaert TD, Friedlaender J, Jorde LB, Watkins WS, Bamshad MJ, Gutierrez G, Loi H, Matsuzaki H, Kittles RA, Argyropoulos G, Fernandez JR, Akey JM, Jones KW. "Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation". Hum Genomics. 2:81-89. (2005) Online citation.


Sample Information:

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Sample Name: Spaniards (Murcia)

Sample UID: SA001866V

Sample Description:This sample consists of unrelated individuals from Espinardo, Spain.

Number of Chromosomes: 200

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: Cantabria

Sample UID: SA001404J

Sample Description:This sample consists of healthy unrelated individuals living in Cantabria (Middle North Spain).

Number of Chromosomes: 266

Relation to Other Samples:

References:
- Sanchez-Molina I, Calvet R "Allelic frequencies for the HLA-DQA1, D1S80, HUMTHO1, HUMTPOX, HUMCSF1PO and HUMVWA loci in Cantabria (middle north Spain)". J Forensic Sci. 45:167-9.. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Tarragona

Sample UID: SA002094P

Sample Description:This sample consists of men and women from Tarragona, Spain.

Number of Chromosomes: 502

Relation to Other Samples:

References:
- Borras E, Coutelle C, Rosell A, Fernandez-Muixi F, Broch M, Crosas B, Hjelmqvist L, Lorenzo A, Gutierrez C, Santos M, Szczepanek M, Heilig M, Quattrocchi P, Farres J, Vidal F, Richart C, Mach T, Bogdal J, Jornvall H, Seitz HK, Couzigou P, Pares X "Genetic polymorphism of alcohol dehydrogenase in europeans: the ADH2*2 allele decreases the risk for alcoholism and is associated with ADH3*1". Hepatology. 31:984-9. (2000) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spanish

Sample UID: SA003390P

Sample Description:This sample consists of Spanish individuals from Madrid. This sample is part of the expanded training sets that were used to asses the 34-plex Ancestry informative marker set assay.

Number of Chromosomes: 230

Relation to Other Samples:

References:
- Phillips C, Prieto L, Fondevila M, Salas A, Gómez-Tato A, Alvarez-Dios J, Alonso A, Blanco-Verea A, Brión M, Montesino M, Carracedo A, Lareu MV. "Ancestry analysis in the 11-M Madrid bomb attack investigation". PLoS One. 4:e6583. (2009) Online citation.


Sample Information:

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Sample Name: Spain

Sample UID: SA003776X

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

Number of Chromosomes: 344

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: Spaniards

Sample UID: SA003866X

Sample Description:This sample consists of healthy unrelated Cuacasian Spanish individuals from the University of Extremadura, Spain.

Number of Chromosomes: 490

Relation to Other Samples:

References:
- García-Martín E, Martínez C, Serrador M, Alonso-Navarro H, Navacerrada F, Agúndez JA, Jiménez-Jiménez FJ. "Alcohol dehydrogenase 2 genotype and risk for migraine". Headache. 50:85-91. (2010) Online citation.


Sample Information:

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Sample Name: Spain

Sample UID: SA003850Q

Sample Description:This sample consists of adult subjects sampled from the cross sectional epidemiological project on the Canary Islands, Spain.

Number of Chromosomes: 1476

Relation to Other Samples:

References:
- Nilsson TK, Laanpere M, Altmäe S, Serra-Majem L, Salumets A. "A folate receptor alpha double-mutated haplotype 1816delC-1841A is distributed throughout Eurasia and associated with lower erythrocyte folate levels". Mol Biol Rep (2011) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Pamplona

Sample UID: SA003661Q

Sample Description:This sample consists of participants of a trial enrolled in an recruitement center in Pamplona,Spain.

Number of Chromosomes: 1552

Relation to Other Samples:

References:
- Razquin C, Martinez JA, Martinez-Gonzalez MA, Bes-Rastrollo M, Fernández-Crehuet J, Marti A. "A 3-year intervention with a Mediterranean diet modified the association between the rs9939609 gene variant in FTO and body weight changes". Int J Obes (Lond). 34:266-72. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spain

Sample UID: SA003110F

Sample Description:This sample consists of subjects from Central Spain.

Number of Chromosomes: 104

Relation to Other Samples:

References:
- Falchi A, Barsotelli M, Giovannoni L, Varesi L, Vona G "Prevalance of MTHFR gene polymorphisms among Meditarenean populations: a possible genetic selection from Malaria?". 554-556. (2006)


Sample Information:

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Sample Name: Valencie

Sample UID: SA003299X

Sample Description:This sample consists of Valencie,Spain.

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: 1818

Relation to Other Samples:

References:
- Corella D, Guillén M, Sáiz C, Portolés O, Sabater A, Cortina S, Folch J, González JI, Ordovas JM. "Environmental factors modulate the effect of the APOE genetic polymorphism on plasma lipid concentrations: ecogenetic studies in a Mediterranean Spanish population". Metabolism. 50:936-44.. (2001) 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: Spanish

Sample UID: SA003050I

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

Number of Chromosomes: 66

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: Spanish

Sample UID: SA003449U

Sample Description:This sample consists of unrelated Spanish individuals.

Number of Chromosomes: 100

Relation to Other Samples:

References:
- Pietrangeli I, Ottaviani E, Martone C, Gabriele L, Arcudi G, Potenza S, Spinella A, Giardina E, Novelli G "Frequency assessment of 25 SNPs in five different populations". Forensic Science International: Genetics 4:e131-3. (2010) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spain

Sample UID: SA002407N

Sample Description:This sample consists of individuals from San Sebastian, Spain.

Number of Chromosomes: 200

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: Spanish

Sample UID: SA002398W

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

Number of Chromosomes: 52

Relation to Other Samples:

References:
- 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: Spanish

Sample UID: SA003238Q

Sample Description:This sample consists of Spanish individuals from Bilbao, Spain.

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: 204

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.

- Mastana SS, Calderon R, Pena J, Reddy PH, Papiha SS. "Anthropology of the apoplipoprotein E (apo E) gene: low frequency of apo E4 allele in Basques and in tribal (Baiga) populations of India". Ann Hum Biol. 25:137-43. (1998) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spanish

Sample UID: SA002480O

Sample Description:This sample consists of Spanish individuals.

Number of Chromosomes: 112

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: Spanish

Sample UID: SA003274Q

Sample Description:This sample consists of individuals from Montes de pas - Cantabrian Mountains - North-Spain.

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: 140

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.

- Valveny N, Esteban E, Kandil M, Moral P. "APO E polymorphism in Spanish and Moroccan populations". Clin Genet. 51:354-6. (1997) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Alpujarra - SE Spain

Sample UID: SA003275R

Sample Description:This sample consists of spanish individuals from Alpujarra, Spain.

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: 198

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.

- Valveny N, Esteban E, Kandil M, Moral P. "APO E polymorphism in Spanish and Moroccan populations". Clin Genet. 51:354-6. (1997) Online citation.


Sample Information:

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Sample Name: Valencia

Sample UID: SA003628T

Sample Description:This sample consists of caucasian unrelated subjects (757 men and 823 women. Participants were healthy, unrelated subjects residing or working in the Valencia region (East Mediterranean coast of Spain0 recruited between 2000 and 2006.

Number of Chromosomes: 3160

Relation to Other Samples:

References:
- Corella D, Carrasco P, Sorlí JV, Coltell O, Ortega-Azorín C, Guillén M, González JI, Sáiz C, Estruch R, Ordovas JM. "Education modulates the association of the FTO rs9939609 polymorphism with body mass index and obesity risk in the Mediterranean population". Nutr Metab Cardiovasc Dis (Epub) (2010) Online citation.


Sample Information:

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Sample Name: Spanish

Sample UID: SA003196T

Sample Description:This sample consists of white Spanish individuals. The participants were recruited at the Medical School of the University of Extremadura (Badajoz, Spain) among students and staff. Signed informed consent was obtained for all participants. The protocol of the study was approved by the Ethihcs Committee of the University Hospital Infanta Cristina (Badajoz, Spain).

Number of Chromosomes: 500

Relation to Other Samples:

References:
- Martínez C, Galván S, Garcia-Martin E, Ramos MI, Gutiérrez-Martín Y, Agúndez JA "Variability in ethanol biodisposition in whites is modulated by polymorphisms in the ADH1B and ADH1C genes". Hepatology. 51:491-500. (2010) Online citation.


Sample Information:

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Sample Name: Spaniards

Sample UID: SA003698A

Sample Description:This sample consists of Spaniards from Spain.

Number of Chromosomes: 80

Relation to Other Samples:

References:
- Acuña-Alonzo V et al. "A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans". Hum Mol Genet 19:2877-85. (2010) Online citation.


Sample Information:

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Sample Name: Spain multicentre

Sample UID: SA002698Z

Sample Description:Specimens were taken from consecutive newborns in 67 hospitals of the National Health Service throughout Spain. These hospitals are part of ECEMC (Spanish Collaborative Study of Congenital Malformatioins). Specimens were collected at the same time as the blood spots for 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: 1202

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: Madrid

Sample UID: SA003355Q

Sample Description:This sample consists of Spanish 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: 1228

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.

- Gómez-Coronado D, Alvarez JJ, Entrala A, Olmos JM, Herrera E, Lasunción MA. "Apolipoprotein E polymorphism in men and women from a Spanish population: allele frequencies and influence on plasma lipids and apolipoproteins". Atherosclerosis. 147:167-76.. (1999) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Asturies

Sample UID: SA003593U

Sample Description:This sample consists of individuals from Asturies.

Number of Chromosomes: 228

Relation to Other Samples:

References:
- Via M, Gonzalez-Perez E, Esteban E, Lopez-Alomar A, Vacca L, Vona G, Dugoujon JM, Harich N, Moral P. "Molecular variation in endothelial nitric oxide synthase gene (eNOS) in western Mediterranean populations". Coll Antropol. 27:117-24. (2003) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Center Spain

Sample UID: SA003594V

Sample Description:This sample consists of individuals from Center Spain.

Number of Chromosomes: 240

Relation to Other Samples:

References:
- Via M, Gonzalez-Perez E, Esteban E, Lopez-Alomar A, Vacca L, Vona G, Dugoujon JM, Harich N, Moral P. "Molecular variation in endothelial nitric oxide synthase gene (eNOS) in western Mediterranean populations". Coll Antropol. 27:117-24. (2003) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Alicante, Spain

Sample UID: SA004044M

Sample Description:This sample consists of individuals from Alicante, Spain. 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: 1022

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: Spanish

Sample UID: SA004001F

Sample Description:This sample consists of Spanish individuals from Barcelona, Spain.

Number of Chromosomes: 158

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: Spanish

Sample UID: SA004002G

Sample Description:This sample consists of Spanish individuals from Sevilla,Spain.

Number of Chromosomes: 294

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: NW Spanish

Sample UID: SA004210H

Sample Description:This sample consists of North West Spanish individuals.

Number of Chromosomes: 72

Relation to Other Samples:

References:
- Phillips C, Aradas AF, Kriegel AK, Fondevila M, Bulbul O, Santos C, Rech FS, Carceles MD, Carracedo A, Schneider PM, Lareu MV. "Eurasiaplex: A forensic SNP assay for differentiating European and South Asian ancestries". Forensic Sci Int Genet 7:359-66. (2013) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spanish

Sample UID: SA004191P

Sample Description:This sample consists of unrelated healthy Spanish donors living in Madrid (Central Spain).

Number of Chromosomes: 142

Relation to Other Samples:

References:
- Martín P, García O, Heinrichs B, Yurrebaso I, Aguirre A, Alonso A. "Population genetic data of 30 autosomal indels in Central Spain and the Basque Country populations". Forensic Sci Int Genet (Epub, ahead of print) (2012) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spain

Sample UID: SA004117N

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

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: 304

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.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: South East Spanish

Sample UID: SA004275S

Sample Description:This sample consists of unrelated individuals from South East Spanish population (Almeria(45), Granada(53) and Malaga(45). Informed consent were obtained from all the individuals and the study was approved by the ethics committee of the University of Granada.

Number of Chromosomes: 246

Relation to Other Samples:

References:
- Saiz M, Alvarez-Cubero MJ, Martinez-Gonzalez LJ, Alvarez JC, Lorente JA "Population genetic data of 38 insertion-deletion markers in South East Spanish population". Forensic Sci Int Genet. 13:236-8. (2014) Online citation.


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spain

Sample UID: SA003993Y

Sample Description:This sample consists of control subjects from northern Spain.

Number of Chromosomes: 536

Relation to Other Samples:

References:
- Combarros O,Sánchez-Guerra M, Llorca J et al. "Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD". Neurology 55:593. (2000)


Sample Information:

Graph estimated heterozygosities for various sites

Sample Name: Spain

Sample UID: SA004547U

Sample Description:This sample consists of individuals from different places in spain. This includes Galicia(112), Cantabria(100), Basque Country(155),Madrid(205), Valencian Community(244), Majorca(102), Malaga(100), Majorca(102) and CanaryIslands(220). 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: 2166

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.


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