Association between single-nucleotide polymorphisms in the endothelial lipase (LIPG) gene and high-density lipoprotein cholesterol levels
| Autor: | John F. Thompson, Kathryn L. Durham, Patrice M. Milos, Albert B. Seymour, Amy R. Mank-Seymour |
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| Rok vydání: | 2004 |
| Předmět: |
Male
Endothelial lipase Population Myocardial Infarction Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Cohort Studies chemistry.chemical_compound Sex Factors High-density lipoprotein Risk Factors Ethnicity Humans education Molecular Biology Genetics Triglyceride lipase Lipoprotein lipase education.field_of_study Cholesterol Cholesterol HDL Lipase Cell Biology chemistry Female Hepatic lipase |
| Zdroj: | Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1636:40-46 |
| ISSN: | 1388-1981 |
| DOI: | 10.1016/j.bbalip.2003.12.001 |
| Popis: | Endothelial lipase (LIPG) is the latest addition to the triglyceride lipase family of genes that includes pancreatic lipase (PL), hepatic lipase (HL), and lipoprotein lipase (LPL). These lipolytic enzymes demonstrate both triglyceride lipase as well as phospholipase activities and are integrally involved in lipid absorption, transport, and metabolism. Several studies have demonstrated that LIPG is important for affecting lipid levels in mice but the data in humans is less complete. To more thoroughly characterize the LIPG gene, we resequenced it from an ethnically diverse population. Thirteen novel single-nucleotide polymorphisms (SNPs) were identified and seven others confirmed. High linkage disequilibrium was found among these SNPs spanning the length of the transcript, allowing interrogation of the entire gene for functional variation. Subjects with either high or low HDL cholesterol were used to investigate its association with LIPG gene variation. Associations were found with the most significant being the intronic variants C+42T/In5 and T+2864C/In8 (P=0.007 and 0.004, respectively). A trend for an association of the same SNPs with fewer myocardial infarctions (P=0.03) was also observed but was not significant after correction for multiple testing. The results of this study provide data linking variation in the human LIPG gene with HDL cholesterol levels as well as further evidence in support of LIPG as a potential target for therapeutic intervention. |
| Databáze: | OpenAIRE |
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