染色体9p21基因多态性与云南彝族人群心肌梗死的相关性研究

The Association of SNP on Chromosome 9p21 with Myocardial Infarction in Yunnan Yi nationality

目的 探讨9p21单核苷酸多态性（single nucleotide polymorphism,SNP）与云南彝族心肌梗死（myocardial infarction,MI）的相关性。方法 选择110例冠状动脉造影证实的MI患者和110例对照组作为研究对象,应用DNA直接测序法,检测9p21的基因位点和SNP分型及分析。结果 心肌梗死组和对照组染色体9p21上10个基因位点中有9个位点达到了Hardy-Weinberg平衡,其中rs1333049 GG基因型频率在病例组和对照组分别为30.91%和18.18%,G等位基因频率分别为58.3%和44.9%,2组比较差异有统计学意义（P〈0.05）;rs2383206 GG基因型频率分别为31.82%和18.18%,G等位基因频率分别为55.3%和41.1%;2组间比较差异有统计学意义。结论 9p21位点rs1333049、rs2383206的多态性与云南彝族MI有关。

Objective To investigate the relationship between 9p21 single nucleotide polymorphism （SNP） and myocardial infarction（MI） in Yunnan Yi nationality. Methods One hundred and ten patients with MI and 110 controls were enrolled. DNA sequencing was used to detect 9p21 gene locus and SNP typing and analysis. Results Hardy-Weinberg equilibrium was found in 9 sites of chromosome 9p21 in myocardial infarction group and control group.The frequency of rs1333049 GG genotype was 30.91% and 18.18% in case group and control group respectively, G The frequencies of rs2383206 GG genotype were 31.82% and 18.18%, respectively, and the frequencies of G allele were 55.3% and 41.1%, respectively. There were significant differences between the two groups 58.3% and 44.9%, The difference between the two groups was statistically significant（P〈0.05）. Conclusion This study demonstrates an association of rs1333049 polymorphism locus on chromosome 9p21 with risk for MI in in Yunnan Yi nationality.