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目的探讨e NOS基因T-786C和G894T两个多态性位点与冠心病(CHD)的相关性。方法以842例CHD确诊患者为病例组,选择同期842名经年龄与性别相匹配的未患有CHD的健康人群为对照,采用Taqman-PCR技术检测两组e NOS基因T-786C和G894T位点基因型,并分析其与CHD的相关性。结果对照组T-786C和G894T位点基因型频率分布符合Hardy-Weinberg遗传平衡定律;病例组与对照组比较,T-786C位点C等位基因(8.79%vs 6.53%,校正OR=2.54,95%CI:2.01~3.14,P=0.01)、CC基因型(0.84%vs0.11%,校正OR=3.81,95%CI:1.74~5.56,P=0.04)和TC/CC基因型(16.75%vs 13.06%,校正OR=2.11,95%CI:1.75~2.98,P=0.03)的频率分布差异均有统计学意义;而TC基因型在两组中的频率分布差异无统计学意义(P>0.05)。病例组中G894T位点T等位基因、GT基因型、TT基因型和GT/TT基因型的频率与对照组比较,差异均无统计学意义(P>0.05)。结论 e NOS基因T-786C位点的C等位基因、CC基因型和TC/CC基因型与CHD患病存在统计学关联,提示该位点可能参与CHD的发病过程,C等位基因和CC基因型、TC/CC基因型可能是CHD发病风险易感因子。
Objective To investigate the association between eNOS gene T-786C and G894T polymorphisms and coronary heart disease (CHD). Methods Totally 842 CHD patients were selected as the case group. 842 age-matched healthy subjects without CHD were selected as the control group, and T-786C and G894T sites of eNOS gene were detected by Taqman-PCR Genotype, and analyze its correlation with CHD. Results The frequency distribution of genotypes of T-786C and G894T in the control group was in accordance with the Hardy-Weinberg law of genetic balance. Compared with the control group, the C allele of T-786C locus (8.79% vs 6.53%, OR = 2.54, CC genotype (0.84% vs 0.11%, OR = 3.81, 95% CI: 1.74-5.56, P = 0.04) and TC / CC genotype (16.75% CI: 2.01-3.14, P = vs 13.06%, OR = 2.11, 95% CI: 1.75-2.98, P = 0.03). There was no significant difference in the frequency distribution of TC genotype between the two groups (P> 0.05). The frequencies of T allele, GT genotype, TT genotype and GT / TT genotype in G894T locus in case group were not significantly different from those in control group (P> 0.05). Conclusions There is a statistically significant association between the C allele, CC genotype and TC / CC genotype in T-786C locus of eNOS gene and the prevalence of CHD, suggesting that this locus may be involved in the pathogenesis of CHD. The C allele and CC Genotype, TC / CC genotype may be risk factors for CHD risk.