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Clin Chem Lab Med ; 41(10): 1351-6, 2003 Oct.
Article in English | MEDLINE | ID: mdl-14580165

ABSTRACT

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 non-diabetic 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 high-density 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 (> or = 60% of luminal coronary stenosis), even controlling for other classical risk factors.


Subject(s)
Coronary Angiography , Coronary Artery Disease/genetics , Lipid Metabolism , Lipoprotein Lipase/genetics , Aged , Brazil , Coronary Artery Disease/diagnostic imaging , Female , Genetics, Population , Genotype , Humans , Linkage Disequilibrium , Lipoprotein Lipase/metabolism , Male , Middle Aged , Mutation , Polymorphism, Single Nucleotide
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