新疆维吾尔族人群9p21单核苷酸多态性与冠心病的关联性研究

目的研究染色体9p21上两个单核苷酸多态性（single nucleotide polymorphism，SNP）位点（rs2383206、rs10757274）在新疆维吾尔族人群中的分布，探讨其与冠心病（coronary heart disease，CHD）的关联性。方法采用病例对照研究，选择172例冠状动脉造影证实的CHD患者和147例患者为对照组作为研究对象，应用LDR—PCR技术对rs2383206、rsl0757274位点进行SNP分型及分析。结果rs2383206GG基因型频率在冠心病组和对照组分别为34．9％和24．4％，G等位基因频率分别为58．1％和49．3％；两组间比较差异均有统计学意义（P〈0．05）；rsl0757274GG基因型频率在冠心病组和对照组分别为32．O％和21．8％，G等位基因频率分别为54．9％和46．6％；两组间比较差异均有统计学意义（P〈0．05）。调整相关因素后，多因素Logistic回归分析，结果提示两个SNP的GG基因型仍是CHD的危险基因型，rs2383206的OR值为1．91，95％CI（1．03～3．53），rsl0757274的OR值为2．03，95％CI（1．08～3．80），P值均〈0．05。结论9p21位点rs2383206、rsl0757274的多态性与维吾尔族族人CHD有关联。

The association of two SNPs on chromosome 9p21 with coronary heart disease in Xinjiang Uygur population

Objective To investigate the distribution of the SNPs （rs2383206, rs10757274） on chromosome 9p21 in Xinjiang Uygur population, and to confirm the association between these two loci and coronary heart disease. Methods As a case-control study, 172 patients were involved for CHD group and 147 subjects for control group according to the re- suits of coronary angiogram. Rs2383206, rs10757274 were genotyped by LDR-PCR technique. Results The GG genotype frequencies of rs2383206 in CHD group and in control group were 34.9 % and 24.4 % respectively. The allele G frequencies were 58.1% and 49.3% respectively. The differences between two groups were statistically significant （P〈0.05）. The GG genotype frequencies of rs10757274 in CHD group and in control group were 32.0% and 21.8%, respectively. The allele G frequencies were 54.9% and 46.6% respectively. The differences between two groups were statistically significant （P〈0.05）. Multi-logistic regression analyses showed that GG genotype of the two SNPs were still the risk factor of CHD after adjustment of related factors （rs2383206 OR 1.91,95%CI （1.03 - 3.53）; rs10757274 OR 2.03, 95%CI （1.08 - 3.80）]. Conclusions This study demonstrates an association of rs2383206, rs10757274 polymorphism locus on chromosome 9p21 with risk for CHD in Xinjiang Ugur population.