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

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.

Lipoprotein lipase PvuII polymorphism is associated with variations in serum lipid levels in non-diabetic pregnant women

“…The frequencies of the H1 and P2 alleles of the LPL polymorphisms were similar to those found in non-pregnant Caucasian American (2,5), German (25), and Brazilian women of European ancestry (26). Moreover, the apo E allelic frequencies in our sample were similar to those detected in non-pregnant Brazilian women of Caucasian descent (17,27) and in pregnant women from other Caucasian populations (21,(28)(29)(30).…”

“…Despite the associations between HindIII polymorphism and variations in serum lipids found in other studies (3,6,26,33,34), we could not establish this association in pregnant women. The findings that the H2H2 genotype is associated with increased TG and reduced HDL cholesterol could be due to the lower activity of LPL in carriers of such genotype (2,25,34).…”

A systematic review and meta-analysis of the relationship between lipoprotein lipase Asn291Ser variant and diseases

“…Of the 21 included publications, nine provided separate associations in different populations (7,8,11,14,16,18,21,24,26). These associations were considered as separate studies.…”

“…Based on 13 studies published up to 1997 (27), Asn291Ser heterozygous carriers had an average increase in plasma TG of 31% and an average decrease in HDL-C of 0.12 mM (P , 0.001). However, since then, a number of other studies have been published in which no association was observed (10,18,20,21,24). In addition to study power and other methodological issues, interactions with important dyslipidemic risk factors such as increasing age and weight gain could have resulted in heterogeneous findings.…”

Estrogen receptor 1 gene polymorphisms and coronary artery disease in the Brazilian population

“…The study was conducted on 341 individuals (127 women and 214 men) of European descent, ascertained by morphological characteristics as previously described (25), who required coronary angiography due to symptoms related to coronary artery disease (CAD). These patients were of unrestricted age and were contacted at the Hospital de Clínicas de Porto Alegre (HCPA).…”