摘要目的探讨eNOS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eNOS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% vs 0.11%,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eNOS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。
Abstract：ObjectiveTo explore the association between single nucleotide polymorphism(SNPs) of eNOS gene T-786C and G894T and the risk of coronary heart disease (CHD). MethodsGenotypes of single nucleotide polymorphism(SNPs) of eNOS gene T-786C and G894T were detected in 842 CHD patients and 842 age and gender matched healthy control individuals using Taqman-polymerase chain reaction genotyping assay and the association between them were analyzed.ResultsGenotype distributions of the two loci in controls were in consistence with Hardy-Weinberg inheritance model. Frequencies of allele C (8.79% vs. 6.53%, P=0.014, OR=2.54, 95%CI=2.01-3.14), CC (0.84% vs. 0.11%, P=0.04, OR=3.81, 95%CI=1.74-5.56) and TC/CC (16.75% vs. 13.06%, P=0.03,OR=2.11, 95%CI=1.75-2.98) genotypes in cases were obviously higher than in controls. However, there was no significant frequency difference of TC genotype in two groups. No significant association was found between allele T, genotype GT, TT and GT/TT and the risk of CHD. ConclusionAllele C, genotype CC and TC/CC of T-786C within eNOS gene were statistically significantly associated with increased risk of CHD, indicating that this locus might be involved in the pathological process of CHD, and allele C, genotype CC, TC/CC might be genetic susceptible factors for CHD.
朱娜, 胡金飞. eNOS基因T-786C和G894T单核苷酸多态性与冠心病关系的病例对照研究[J]. 预防医学, 2016, 28(1): 9-12.
ZHU Na, HU Jin-fei. A case-control study on the association between single nucleotide polymorphism of eNOS gene T-786C and G894T and the risk of coronary heart disease. Preventive Medicine, 2016, 28(1): 9-12.
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