与日本人心肌梗死相关的 5p15.3 染色体上的 SNPs。
SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population.
机构信息
Laboratory for Cardiovascular Disease, Center for Genomic Medicine, RIKEN, Yokohama, Japan.
出版信息
J Hum Genet. 2011 Jan;56(1):47-51. doi: 10.1038/jhg.2010.141. Epub 2010 Nov 25.
Myocardial infarction (MI) occurs as the result of complex interactions of multiple genetic and environmental factors. By conducting a genome wide association study in a Japanese population using 210,785 single nucleotide polymorphism (SNP) markers, we identified a novel susceptible locus for MI on chromosome 5p15.3. An SNP (rs11748327) in this locus showed significant association in several independent cohorts (combined P = 5.3 × 10(-13), odds ratio = 0.80, comparison of allele frequency). Association study using tag SNPs in the same linkage disequilibrium block revealed that two additional SNPs (rs490556 and rs521660) conferred risk of MI. These findings indicate that the SNPs on chromosome 5p15.3 are novel protective genetic factors against MI.
心肌梗死（MI）是由多种遗传和环境因素的复杂相互作用引起的。通过在日本人群中使用 210785 个单核苷酸多态性（SNP）标记进行全基因组关联研究，我们在染色体 5p15.3 上鉴定出一个 MI 的新易感位点。该位点的一个 SNP（rs11748327）在几个独立队列中显示出显著的相关性（合并 P = 5.3×10(-13)，比值比 = 0.80，比较等位基因频率）。使用同一连锁不平衡块中的标签 SNP 进行的关联研究表明，另外两个 SNP（rs490556 和 rs521660）赋予 MI 的风险。这些发现表明染色体 5p15.3 上的 SNPs 是 MI 的新型保护性遗传因素。
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