南宁市汉族女性不明原因复发性流产与MTHFR基因C677T位点多态性相关性研究

摘要

目的:探讨南宁市汉族女性不明原因复发性流产与亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点多态性的关联性.方法:采用病例对照研究的方法,以南宁市汉族女性152例不明原因复发性流产患者(流产组)和313例正常妇女(对照组)为研究对象,用荧光定量PCR技术,检测MTHFR基因C677T位点的单核苷酸多态性,并分析检测结果与不明原因复发性流产的相关性.结果:流产组MTHFR 677TT基因型占比(10.5％)较对照组(6.4％)明显升高,同时T等位基因在流产组的占比(30.3％)也显著高于对照组(21.7％),该位点基因型(CC、CT、TT)、等位基因(C、T)在两组中的分布差异均有统计学意义(P＜0.05).CT基因型者发生流产的风险为CC基因型的1.620倍,TT基因型者发生流产的风险为CC基因型的2.074倍.结论:南宁市汉族女性不明原因复发性流产的发生与MTHFR C677T位点的多态性变化具有相关性.%Objective:To investigate the correlation between the 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and unexplained recurrent spontaneous abortion (URSA) in Han individuals in Nanning City.Methods:152 patients with URSA and 313 normal women were enrolled.Gene polymorphisms of MTHFR was analyzed by fluorescence quantitative PCR.Results:A statistically significant increase in the frequency of the MTHFR 677TT genotype was found in URSA patients (10.5％),compared to controls (6.4％),and the T allele frequency was notably higher as well.There was significant difference in the distribution of genotypes and alleles of MTHFR C677T between URSA patients and controls (P＜0.05).The women with CT genotype had 1.620 times higher risk for developing URSA than those with CC genotype,and TT genotype was 2.074 times higher.Conclusion:The polymorphisms of MTHFR C677T was associated with URSA in Nanning Han individuals.