Abstract
To assess common variants of the LPL gene that could influence susceptibility to myocardial infarction (MI), we assessed three functional single-nucleotide polymorphisms (SNPs), D9N, N291S, and S447X, in 1,321 survivors of a first acute MI and 1,321 population-based controls, matched for age, gender, and area of residence, all living in the Central Valley of Costa Rica. Conditional logistic regression was used to estimate odds ratio (OR) and 95% confidence interval (CI). The frequency of the X447 mutant allele was significantly lower in cases than in controls (6.2% vs. 7.6%; P < 0.01), whereas no association with MI was found for D9N or N291S. The OR (95% CI) for carriers vs. noncarriers of the X447 allele was 0.80 (0.63-1.01); when considering the haplotype that contained X447 and normal alleles of D9N and N291S, the OR (95% CI) was 0.66 (0.48-0.91). Twelve other SNPs were assessed in a subgroup of the population, of which the four functional SNPs were found to be monomorphic, and no correlation with MI was observed for the other eight neutral SNPs. The X447 mutant allele of the LPL gene may protect from MI risk, although this effect is small.
Highlights
Lipoprotein lipase is a major enzyme responsible for the hydrolysis of circulating triglyceride [1]
We examined 15 single-nucleotide polymorphisms (SNPs) in the LPL gene to test whether these genetic variants are associated with the risk of nonfatal myocardial infarction (MI) in the Central Valley of Costa Rica
We studied the effect of genetic variation in the LPL gene and risk of MI in a large population-based study in the Central Valley of Costa Rica
Summary
Lipoprotein lipase is a major enzyme responsible for the hydrolysis of circulating triglyceride [1]. Other highly frequent LPL mutations are population-specific, such as P207L and G188E in French Canadians [8]. Overall, these mutations are associated with increased triglycerides and decreased HDL cholesterol in plasma [9]. Despite the relatively consistent LPL gene effects on plasma lipids and enzyme activity, results from studies addressing the effect of LPL genetic mutations on clinical end points in the general population are sparse. The N9 allele has been associated with increased coronary heart disease risk [11], but most studies do not show an association [9]. We examined 15 single-nucleotide polymorphisms (SNPs) in the LPL gene to test whether these genetic variants are associated with the risk of nonfatal myocardial infarction (MI) in the Central Valley of Costa Rica
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