ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Lipoprotein lipase	LO000280K	LPL	8	8p22

Synonyms: LIPD ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM description GenBank sequence GenBank sequence GenBank sequence LPL animated metabolism pathway GenBank sequence PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: LPL encodes lipoprotein lipase, a 55-kDa glycoprotein, which plays a major role in lipoprotein metabolism by hydrolyzing core triglycerides of circulating chylomicrons and very low density lipoprotein (VLDL). Human LPL locus spans around 30 kb on chromosome 8 and comprises 10 exons. Exons 1-9 are of average size (105-276 bp) whereas exon 10, which specifies the entire 3' uncoding sequence, is 1948 bp in length (Deeb and Peng, 1989) [PubMed ID: 2765475]. Sparkes et al. (1987) [PubMed ID: 3692485] localized the LPL locus to chromosome 8p22 by in situ hybridization. Eighty-eight variable sites were identified across the 9.7 kb region of 3? end of the LPL gene in three different populations: African-American, European, and European-American (Nickerson et al., 1998 [PubMed ID: 9662394] and Templeton et al., 2000 [PubMed ID: 10631137]). The most extensively studied polymorphism sites are PvuII (in intron 6) (Oka et al., 1989) [PubMed ID: 2571120] and HindIII (in the 3? flanking region) (Heinzmann et al., 1987) [PubMed ID: 2888089] sites (Oka et al., 1990) [PubMed ID: 1972631].
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:

Site Name (Navigates to ALFRED description)	dbSNP rs# (Navigates to dbSNP reference page)	Chr-Position	# Populations typed
rs17091742	rs17091742	19796130	50
T(-93)G	rs1800590	19796671	3
rs1534649	rs1534649	19799641	51
rs13266204	rs13266204	19800005	50
rs7000460	rs7000460	19803802	50
Asp9Asn	rs1801177	19805708	3
rs17116619	rs17116619	19821233	50
rs10099160	rs10099160	19821815	51
rs3916027	rs3916027	19824868	50
rs9644636	rs9644636	19824896	50
rs2197089	rs2197089	19826373	50
rs10100638	rs10100638	19826690	50
rs10105606	rs10105606	19827848	50
rs2410616	rs2410616	19828679	50
rs7845291	rs7845291	19829703	50
rs253	rs253	19855697	50
rs264	rs264	19857460	51
rs266	rs266	19857579	50
Asn291Ser	rs268	19857809	3
rs270	rs270	19857956	51
rs285	rs285	19859469	1
rs297	rs297	19860651	50
rs316	rs316	19862716	51
Ser447Ter	rs328	19864004	3
rs331	rs331	19864685	50
LPL (AAAT) _n tetranucleotide repeat (version 1)			34
PvuII			43
LPL (AAAT) _n tetranucleotide repeat (version 2)			8

References:
- Deeb SS, Peng RL. "Structure of the human lipoprotein lipase gene". Biochemistry 28:4131-5. (1989) Online citation.

- Heinzmann C, Ladias J, Antonarakis S, Kirchgessner T, Schotz M, Lusis AJ. "RFLP for the human lipoprotein lipase (LPL) gene: HindIII". Nucleic Acids Res. 15:6763. (1987) Online citation.

- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.

- Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengard J, Salomaa V, Vartiainen E, Boerwinkle E, Sing CF. "DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene". Nat. Genet. 19:233-40. (1998) Online citation.

- Oka K, Tkalcevic GT, Nakano T, Tucker H, Ishimura-Oka K, Brown WV. "Structure and polymorphic map of human lipoprotein lipase gene". Biochim. Biophys. Acta 1049:21-6. (1990) Online citation.

- Oka K, Tkalcevic GT, Stocks J, Galton DJ, Brown WV. "Nucleotide sequence of PvuII polymorphic site at the human lipoprotein lipase gene locus". Nucleic Acids Res. 17:6752. (1989) Online citation.

- Parra E, Saha N, Soemantri AG, McGarvey ST, Hundrieser J, Shriver MD, Deka R. "Genetic Variation at 9 autosomal Microsatellite Loci in Asian and Pacific Populations". Hum. Biol. 71:757-779. (1999) Online citation.

- Sparkes RS, Zollman S, Klisak I, Kirchgessner TG, Komaromy MC, Mohandas T, Schotz MC, Lusis AJ. "Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21". Genomics 1:138-44. (1987) Online citation.

- Templeton AR, Clark AG, Weiss KM, Nickerson DA, Boerwinkle E, Sing CF. "Recombinational and mutational hotspots within the human lipoprotein lipase gene". Am. J. Hum. Genet. 66:69-83. (2000) Online citation.

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© 2012 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