rs671和rs1801157基因多态性与云南汉族人群心肌梗死的易感性分析

目的对云南高海拔地区汉族人群rs671 和rs1801157 单核苷酸多态性（SNP）进行分析，探讨其与心肌梗死（MI）易感性的关系。方法Sequenom MassArray 系统基因分型方法对500 例云南高海拔地区汉族MI患者和350例对照组患者671和1801157的基因多态性进行检测，结合患者CAD/MI主要独立危险因素（性别、年龄、高血压、糖尿病、脂质浓度、肥胖程度、烟酒史及家族史等），分析MI 与SNP变化之间的潜在关联性。结果rs671 和rs1801157 基因型在MI组和对照组中达到遗传平衡（P >0.05）。MI 组中rs671AA、AG 及A 等位基因频率与rs1801157的、及等位基因均高于对照组，而rs671的基因型和rs1801157的AA频率、等位基因低于对照组（P <0.05）。加性模型下，rs671 A等位基因能增加MI的患病风险[OR=2.57（95%CI：1.96，3.37）P <0.05]，而 1801157基因型G等位基因能增加MI的患病风险[OR=2.68（95%CI：1.84，3.15）P <0.05]；在显性模型下，671 A 等位基因能增加 MI 的患病风险[OR=3.69（95%CI：2.68，5.08）P <0.05]；在隐性模型下，rs671和 rs1801157 与 MI 无相关，OR=3.86（95%CI：0.88，17.03， P=0.074）和 2.06（95%CI：0.68，4.89， P=0.12）。在非饮酒患者中 671 A 等位基因能增加 MI 的患病风险[OR=1.27（95%CI：1.05，2.93）P =0.032]；在饮酒患者中 671A 等位基因不能增加 MI 的患病风险OR=1.58（95%CI：0.84，1.87，P =0.36），在饮酒与否的患者中 rs1801157 均不增加MI 的患病风险。结论rs671 和rs1801157 位点的多态性变异与MI 遗传易感性相关，rs671A 和rs1801157 等位基因能增加MI 患者的患病风险。

Correlation analysis of rs671 and rs1801157 polymorphisms and myocardial infarction in Han population of Yunnan province

Objective To investigate the potential correlation of single nucleotide polymorphism (SNP) of rs671 as well as rs1801157 and myocardial infarction (MI) in a group of Chinese Han population from Yunnan province. Methods Sequenom MassArray system genotyping was utilized to identify the polymorphisms of rs671 and rs1801157 in 500 MI patients as well as 350 healthy volunteers. The potential association between MI and SNPs was analyzed in addition to consideration of major independent risk factors such as gender, age, hypertension, diabetes, lipid concentration, obesity, smoking, drinking and family history. Results rs671 Genotypes of and were equally distributed in MI group and control group. Frequency of AA, A and AG genotype in of rs671 MI group was higher while GG genotype was lower significantly than that in control group (P < 0.05). Frequency of GG, GA and G genotype in of MI group was higher while AA and A genotype was significantly lower than that in control group (P < 0.05). In additive model, A allele of rs671 and G allele of rs671 rs1801157 increased risk of MI with OR equal to 2.57 (95% CI: 1.96, 3.37, P< 0.05). In dominant model, A allele of increased risk of MI with OR equal to 3.69 (95% CI: 2.68, 5.08, P< 0.05). In recessive model, no significant correlation between rs671 as well as and MI was observed with OR equal to 3.86 (95% CI: 0.88, 17.03,P = 0.074). A allele of rs671 increased risk of MI in nondrinking patients with OR equal to 1.27 (95% CI: 1.05, 2.93,P = 0.032), while no such association was observed in drinking patients with OR equal to 1.58 (95% CI: 0.84, 1.87,P = 0.36). No correlation was founded between drinking and polymorphism as MI risk factors. Conclusions Polymorphic variation of rs671 and rs1801157 is closely associated with susceptibility to MI in Chinese Han population of Yunnan province. Alleles of rs671 and are genetic risk factors of MI.