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Papers In Press, published online ahead of print February 1, 2010
J. Lipid Res., doi:10.1194/jlr.P001578

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Journal of Lipid Research, Vol. 51, 422-430, February 2010
Copyright © 2010 by American Society for Biochemistry and Molecular Biology

Patient-Oriented and Epidemiological Research

Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population^[S]

Uur Hodolugil^*, David W. Williamson^* and Robert W. Mahley^1,*,

^* Gladstone Institute of Cardiovascular Disease, University of California, San Francisco, CA
Departments of Medicine and Pathology, University of California, San Francisco, CA

¹ To whom correspondence should be addressed. e-mail: rmahley{at}gladstone.ucsf.edu

We investigated the effects of single nucleotide polymorphisms (SNPs) of the hepatic lipase gene (LIPC) on plasma HDL-cholesterol (HDL-C) levels in Turks, a population with low levels of HDL-C. All exons and six evolutionarily conserved regions from 28 Turkish subjects were sequenced. We found 51 SNPs, nine of which were novel. Those 51 SNPs and SNPs from the National Center for Biotechnology Information dbSNP were evaluated by bioinformatics approaches. The population frequencies and linkage disequilibrium among SNPs from HapMap were combined with results from transcriptional factor prediction tools and the literature to select SNPs for genotyping. We found that five tagging LIPC SNPs, two reported here for the first time, were significantly associated with plasma HDL-C levels in both men and women (n = 2,612). These results were replicated in a separate Turkish cohort (n = 1,164). Plasma HDL-C levels were higher in subjects homozygous for the minor alleles of rs4775041, rs1800588 (–514C>T), and rs11858164 and lower in subjects homozygous for the minor alleles of rs11856322 and rs2242061. These SNPs seemed to have independent and additive effects on plasma HDL-C levels (1.5–5.2 mg/dl). Hepatic lipase activity in a subset (n = 260) of the main cohort was also significantly associated with all five SNPs. Thus, five LIPC SNPs, two novel, are associated with plasma HDL-C levels and hepatic lipase activity in two cohorts of Turkish subjects.

Supplementary key words single nucleotide polymorphisms • lipoprotein metabolism • heart disease risk

Abbreviations: BMI, body mass index; CEU, Centre d'Etude du Polymorphisme Humaine from Utah; ECR, evolutionarily conserved region; GWA, genome-wide association; HDL-C, HDL-cholesterol; HNF4, hepatic nuclear factor 4; LD, linkage disequilibrium; LDL-C, LDL-cholesterol; LIPC, hepatic lipase gene; SNP, single nucleotide polymorphism; THS, Turkish Heart Study; VDR, vitamin D receptor

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