目的：分析内皮型一氧化氮合酶（ eNOS）基因G894T和4a4b 的3个多态性位点与新疆维吾尔族冠状动脉粥样硬化性心脏病（ CHD）发病的相关性。方法选择2012年1月—2014年12月在新疆医科大学第一附属医院冠心病科住院的CHD患者136例作为研究组，同时选择同期体检者120为健康对照组。空腹抽取2组研究对象肘静脉血，通过聚合酶链反应—限制性片段长度多态性（PCR-RELP）和PCR技术分析单核苷酸多态性位点即G894T，以及1个可变串联重复序列（VNTR）位点4a4b，检测各位点的基因型及等位基因频率，比较2组间各位点基因型和等位基因频率的差异。结果研究组 eNOS基因G894T的TT、GT基因型明显高于健康对照组（OR＝2换．16，95％CI 1．12～3．68， P ＜0．05），T等位基因频率高于对照组（OR＝1．96，95CI 1．09～3．76， P ＜0．05）。4a4b位点的等位基因4a频率显著高于健康对照组（OR＝2．18，95CI 1．31～3．58， P ＜0．05）。结论 eNOS基因G894T和4a4b多态性位点的基因型和等位基因频率分布与新疆维吾尔族CHD发病相关，等位基因T和等位基因4a可能是新疆维吾尔族CHD患者的易感基因。%Objective To analyze the correlation between the 3 polymorphisms of endothelial nitric oxide synthase ( eNOS) gene G894T and 4a4b and the incidence of coronary atherosclerotic heart disease ( CHD) in Xinjiang Uygur popula-tion.Methods Choose from January 2012 to December 2014, 136 cases of patients with CHDin the First Affiliated Hospital of Xinjiang Medical University, Department of coronary heart disease enrolled as the study group, while selecting the same pe-riod of 120 healthy people for physical examination as control group.Sampling the elbow vein blood and by the polymerase chain reaction restriction fragment length polymorphism ( PCR-RFLP) and PCR analysis of single nucleotide polymorphisms G894T polymorphisms, and a variable series repeats (VNTR) loci 4a4b, testing each of the genotype and allele frequencies and compared between the two groups in each genotype and allele frequency differences.Results TT, GT genotype of eNOS gene G894T in study group were significantly higher than healthy control group ( OR=2.16, 95% CI 1.12 -3.68, P <0.05), the frequency of T allele was higher than the control group (OR=1.96, 95CI, 1.09-3.76, P <0.05).The 4a4b allele frequency of 4A was significantly higher than that in healthy control group ( OR=2.18, 95CI, 1.31 -3.58, P <0.05).Conclusion The genotype and allele frequency distribution of G894T gene eNOS and 4a4b polymorphism was related to the incidence of CHD in Xinjiang Uygur population, the allele T and allele 4A may be the susceptibility gene of CHD pa-tients in Xinjiang Uygur Autonomous Region.
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