ArticleProceedings of the National Academy of Sciences of the United States of America1997
A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
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Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 245 citations in OpenAlex.
- Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.Circulation. Cardiovascular genetics · 2009Pooled it
- Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.Nature genetics · 2008 · on this mapPooled it
- Association of variation in hepatic lipase activity with promoter variation in the hepatic lipase gene. The LOCAT Study Invsestigators.The Journal of clinical investigation · 1998Trial
- Alkaline mineral complex water protects piglets against viral infection by driving cholesterol consumption through the GPAT2/SULT2A1 axis.Science China. Life sciences · 2026Article
- Review
- Profile of Jonathan C. Cohen.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Review
- Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.Nature genetics · 2022Article
- MRLocus: Identifying causal genes mediating a trait through Bayesian estimation of allelic heterogeneity.PLoS genetics · 2021Article
- The -514C>T polymorphism in the LIPC gene modifies type 2 diabetes risk through modulation of HDL-cholesterol levels in Mexicans.Journal of endocrinological investigation · 2021Article
- Functional Haplotype ofGenes · 2021Article
- The Effect of Haplotypes in theGenes · 2020Article
- Article
- A quantitative framework for characterizing the evolutionary history of mammalian gene expression.Genome research · 2019Article
- Association between the Hepatic Lipase Promoter Region Polymorphism (-514 C/T) and the Presence and Severity of Premature Coronary Artery Disease.The journal of Tehran Heart Center · 2017Article
- The rs2070895 (-250G/A) Single Nucleotide Polymorphism in Hepatic Lipase (HL) Gene and the Risk of Coronary Artery Disease in North Indian Population: A Case-Control Study.Journal of clinical and diagnostic research : JCDR · 2016Article
- Association between two common polymorphisms (single nucleotide polymorphism -250G/A and -514C/T) of the hepatic lipase gene and coronary artery disease in type 2 diabetic patients.Advanced biomedical research · 2016Article
- Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study.Indian journal of clinical biochemistry : IJCB · 2013Article
- Biochemistry and pathophysiology of intravascular and intracellular lipolysis.Genes & development · 2013Review
- Diplotyper: diplotype-based association analysis.BMC medical genomics · 2013Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Genetic factors strongly influence interindividual variation in plasma high density lipoprotein cholesterol (HDL-C) levels, but the specific genetic polymorphisms that confer heritable variation in HDL-C levels have not been identified. In this study we examined the relationship between polymorphism in LIPC, the gene encoding hepatic lipase, and plasma HDL-C concentrations using a sequential approach comprising linkage analysis, DNA sequencing, and association studies. Linkage studies in 1465 American white subjects from 218 nuclear families indicated that allelic variation at, or closely linked to, the hepatic lipase gene accounts for a significant fraction ( approximately 25%) of the variation in plasma HDL-C concentrations. The hepatic lipase gene was then sequenced in selected individuals, and four novel polymorphisms were identified in the 5' flanking region of the gene. These polymorphisms were in complete linkage disequilibrium and thus identified a single novel allele. Association studies indicated that heterozygosity for the rare allele was associated with modestly increased concentrations of plasma HDL-C (41 +/- 11 vs. 37 +/- 10 mg/dl, P < 0.05) and apolipoprotein AI in men (131 +/- 23 vs. 122 +/- 21 mg/dl, P < 0.05) but not in women. Homozygosity for the rare allele was associated with markedly higher plasma HDL-C (63 +/- 3 mg/dl) and apolipoprotein AI (153 +/- 9 mg/dl) concentrations in men. The results of the association study were replicated in a second, independently ascertained sample. Taken together, the results of the linkage and association studies provide strong evidence that genetic variation in hepatic lipase activity is a major determinant of plasma HDL-C levels.
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