武汉市汉族女性MTHFR C677T基因多态性分布研究

Polymorphism distribution of MTHFR C677T gene among Han women in Wuhan

目的探讨武汉市汉族女性亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性的分布特征,为本地区育龄女性个性化孕期保健奠定遗传学基础。方法通过横断面调查研究武汉市1 438例育龄汉族女性MTHFR C677T基因型,采用统计学方法分析MTHFR C677T基因多态性分布特征在不同年龄、地域之间的差异。结果武汉市MTHFR C677T基因型中CC、CT、TT基因型频率分别是37.1%、47.3%、15.6%,本地区汉族女性MTHFR C677T基因型频率及等位基因频率与其他非湖北省城市(乌鲁木齐、延边、长春、廊坊、烟台、郑州、湘潭、九江、镇江、南宁、琼海)比较差异有统计学意义(P<0.05),与湖北省内其他城市(建始、荆州)相比差异无统计学意义(P>0.05)。MTHFR C677T基因多态性分布在各年龄组间差异无统计学意义(P>0.05)。结论武汉市女性MTHFR C677T基因多态性分布与其他地区相比有一定差异,具有地区特征性。

Objective To investigate the distribution characteristics of methylenetetrahydrofolate reductase （MTHFR） C677T gene polymorphisms in Hart women in Wuhan City, Hubei Province, so as to lay the basis of genetics in childbearing age women for individual health care. Methods A cross-sectional study was conducted among 1 438 Han women from Wuhan City, as well as the polymorphisms of MTHFR C677T were detected. The relationships between gender, region and distribution characteristics of SNPs were analyzed statistically. Results The genotype frequencies of MTHFR 677CC/CT/TT were 37.1%, 47.3%, and 15.6% respectively in Wuhan City. There were statistically significant differences （P〈0.05） in MTHFR C677T genotype and allele frequencies between Hart women in Wuhan City and Han women in other non-Hubei cities （Urumqi, Yanbian, Changchun, Langfang, Yantai, Zhengzhou, Xiangtan, Jiujiang, Zhenjiang, Nanning, Qionghai）, while there were no statistically significant differences （P 〉 0.05） between Han women in Wuhan City and Han women in other cities in Hubei Province （Jianshi and Jingzhou）. No statistically significant difference was found in the genotype distribution of MTHFR C677T among different age groups （P 〉 0.05）. Conclusion Polymorphism distribution of MTHFR C677T gene among Han women in Wuhan City is statistically different from that in other selected regions of China, showing regional specificity.