Common Variants in the Lipoprotein Lipase Gene in Brazil: Association with Lipids and Angiographically Assessed Coronary Atherosclerosis

• Published in: Clinical chemistry and laboratory medicine Vol. 41; no. 10; pp. 1351 - 1356
• Main Authors: Rios, Domingos L. S., Vargas, André F., Ewald, Gisele M., Torres, Marco R., Zago, Alcides J., Callegari-Jacques, Sídia M., Hutz, Mara H.
• Format: Journal Article
• Language: English
• Published: Berlin Walter de Gruyter 01.10.2003; New York, NY
• Subjects: Aged; Biological and medical sciences; Brazil; Cardiology. Vascular system; Coronary Angiography; Coronary Artery Disease - diagnostic imaging; Coronary Artery Disease - genetics; Coronary heart disease; Female; Genetics, Population; Genotype; Heart; Humans; Linkage Disequilibrium; Lipid Metabolism; Lipoprotein Lipase - genetics; Lipoprotein Lipase - metabolism; Male; Medical sciences; Middle Aged; Mutation; Polymorphism, Single Nucleotide; Tropical medicine; South America; Brazil; America; Human; Enzyme; Pathogenesis; Genetic variant; Cardiovascular disease; Genotype; Lipids; Esterases; Lipoprotein lipase; Coronary heart disease; Genetic determinism; Carboxylic ester hydrolases; Arterial disease; Vascular disease; Phenotype; Gene; Risk factor; Genetics; Hydrolases; Mutation; Haplotype
• ISSN: 1434-6621; 1437-4331
• DOI: 10.1515/CCLM.2003.207

Lipoprotein lipase is the rate-limiting enzyme in the lipolysis of plasma triglyceride-rich lipoproteins. We studied six variants (T-93G, D9N, N291S, PvuII, HindIII and S447X) in the lipoprotein lipase (LPL) gene in 309 nondiabetic patients with angiographically assessed coronary artery disease and in 197 controls in a southern Brazilian population of European descent. The HindIII H-allele was associated with lower triglycerides (p < 0.01) and higher high-density lipoprotein cholesterol (p = 0.03) levels, and the S447X mutation was associated with lower triglyceride levels (p < 0.01) in males, but not females. No other significant lipid associations were observed. Haplotypes were derived from these two sites (HindIII/S447X), and carriers of H-S and H-X haplotypes showed lower triglycerides (p < 0.01) and increased highdensity lipoprotein cholesterol (p = 0.01) levels when compared to the H+S haplotype in males. In this gender, the H-X haplotype was associated with a protective effect (OR = 0.36, 95%CI = 0.13-0.97) for significant disease (≥60% of luminal coronary stenosis), even controlling for other classical risk factors. Clin Chem Lab Med 2003; 41(10):13511356