目的:检测河南汉族冠心病(CHD)患者MTHFR/C677T、MS/A2756G和CBS/844ins68 3种基因的多态性.方法:应用聚合酶链反应-限制性片段长度多态性技术对210例河南汉族CHD患者和249名健康对照进行MTHFR/C677T、MS/A2756G和CBS/844ins68基因多态性分析,并对MTHFR/C677T和MS/A2756G两位点进行单倍型分析.结果:CHD组MTHFRC677T T/T基因型频率(36.2%)高于对照组(20.5%),差异有统计学意义(χ2=14.046,P＜0.001),2组间T等位基因频率(59.0%vs 42.6%)差异有统计学意义(χ2=24.744,P＜0.001).MS/A2756G和CBS/844ins68位点的基因型频率和等位基因频率差异无统计学意义(P＞0.01).CHD组中677T-2756A单倍型频率(52.7%)明显高于对照组(39.2%)(χ2=17.251,P＜0.001),677C-2756A单倍型频率低于对照组(37.5%vs 51.0%)(χ2=17.101,P＜0.001).结论:MTHFR T/T基因型可能是河南汉族CHD形成的遗传风险因子;677T-2756A可能是风险单倍型,677C-2756A可能是保护单倍型.%Aim:To explore the associations between methylenetetrahydrofolate reductase( MTHFR) C677T, methio-nine synthase ( MS/A2756G) and cystathionine β-synthase( CBS)844ins68 polymorphisms in Han population with coronary heart disease in Henan province. Methods:210 cases with CHD( patient group) and 249 healthy subjects (control group) were recruited in the study. The polymorphisms of MTHFR/C677T, MS/A2756G and CBS/844ins68 were detected by PCR-RFLP. Results: The frequencies of T/T genotypes of MTHFR between CHD group and control group had significant difference( 36. 2% vs 20. 5% ,x2 = 14. 046, P < 0. 001) . The T allele had significant difference in the two groups (x2 = 24. 744,P< 0.001). The frequencies of 677T-2756A haplotype in CHD group were significantly higher than that in control group(52. 7% vs 39. 2% ,x2 = 17. 251 ,P < 0. 001 ) , and the frequencies of 677C-2756A haplotype in CHD group were less than that in control group(x2 = 17.101,P<0.001). Conclusion: The homozygous of MTHFR (T/T) may be a risk factor of CHD. The 677T-2756A may be a risk haplotype of CHD,and the 677C-2756A may be a protective haplotype of CHD.
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