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首页> 外文期刊>Annals of Human Genetics >Association of SNP rs17465637 on Chromosome 1q41 and rs599839 on 1p13.3 with Myocardial Infarction in an American Caucasian Population
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Association of SNP rs17465637 on Chromosome 1q41 and rs599839 on 1p13.3 with Myocardial Infarction in an American Caucasian Population

机译：SNP rs17465637在染色体1q41和rs599839在1p13.3上与美国高加索人群的心肌梗死相关性

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Recent genome-wide single nucleotide polymorphism (SNP) association studies (GWAS) have identified a number of SNPs that were significantly associated with coronary artery disease and myocardial infarction (MI). However, many independent replication studies in other populations are needed to unequivocally confirm the GWAS association. To assess GWAS association, we have established a case-control cohort consisting of 1231 well-characterised MI patients and 560 controls without detectable coronary stenosis, all selected from the Cleveland Genebank population. The Genebank cohort has sufficient power to detect the association between MI and four GWAS SNPs, including rs17465637 within the MIA3 gene, rs2943634 (intergenic), rs6922269 in MTHFD1L, and rs599839 near SORT1. SNPs were genotyped by TaqMan assays and follow-up multivariate logistic regression analysis with incorporation of significant covariates showed significant association with MI for MIA3 SNP rs17465637 (P-adj= 0.0034) and SORT1 SNP rs599839 (P-adj= 0.009). The minor allele G of rs599839 was also associated with a decreased LDL-C level of 5–9 mg/dL per allele, but not with HDL-C or triglyceride levels. No association for MI or lipid levels was found for SNPs rs2943634 and rs6922269 (P-adj > 0.05). Our results establish two SNPs, rs17465637 in MIA3 and rs599839 near SORT1 as significant risk factors for MI in the American Genebank Caucasian population.
机译：最近的全基因组单核苷酸多态性（SNP）关联研究（GWAS）已发现许多与冠心病和心肌梗塞（MI）显着相关的SNP。但是，需要其他人群中的许多独立复制研究来明确确认GWAS关联。为了评估GWAS关联，我们建立了一个病例对照队列，其中包括1231名特征明确的MI患者和560名无可检测到的冠状动脉狭窄的对照，所有这些均选自Cleveland Genebank人群。 Genebank队列具有足够的功能来检测MI和四个GWAS SNP之间的关联，包括MIA3基因中的rs17465637，rs2943634（基因间），MTHFD1L中的rs6922269和SORT1附近的rs599839。通过TaqMan分析对SNP进行基因分型，并进行后续多变量Logistic回归分析，并纳入重要协变量，表明MIA3 SNP rs17465637（P-adj = 0.0034）和SORT1 SNP rs599839（P-adj = 0.009）与MI显着相关。 rs599839的次要等位基因G也与每个等位基因的LDL-C水平降低5-9 mg / dL有关，但与HDL-C或甘油三酸酯水平无关。 rs2943634和rs6922269的SNP没有发现MI或脂质水平的相关性（P-adj> 0.05）。我们的研究结果确定了两个SNP，即MIA3中的rs17465637和SORT1附近的rs599839，这是美国种质库白种人人口中MI的重要危险因素。

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