Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol.

摘要: Coronary artery disease (CAD) is a major health concern in both developed and developing countries. With heritability estimated at ∼50%, there strong rationale to better define the genetic contribution CAD. This project involves analysis of 884 individuals from 142 families (with average sibships 5.7) as well 558 case control subjects Saguenay Lac St-Jean region northeastern Quebec, with use 1,536 single-nucleotide polymorphisms (SNPs) 103 candidate genes for By clusters SNPs generate multiallelic haplotypes loci segregation studies within families, suggestive linkage high-density lipoprotein (HDL) cholesterol observed on chromosome 1p36.22. Furthermore, several associations that remain significant after Bonferroni correction are lipoprotein-related traits plasma concentrations adiponectin. Of note, HDL levels associated an amino acid substitution (lysine/asparagine) codon 198 ( rs5370 ) endothelin-1 EDN1 sex-specific manner, SNP rs2292318 located 7.7 kb upstream lecithin acyl-transferase LCAT ). Whereas other described current literature, these two new. Using independent validation sample 806 individuals, we confirm association P was nonsignificant =.12).