厦门地区汉族育龄妇女MTHFR C677T基因多态性分布

Polymorphism distribution of MTHFR C677T gene among Han women of childbearing age in Xiamen

目的分析厦门地区汉族育龄妇女的5,10-亚甲基四氢叶酸还原酶(MTHFR)基因的多态性的分布情况,指导该地区叶酸的个体化补充。方法回顾性分析2016年7月至2019年8月至成功医院妇科门诊就诊的994例厦门市汉族育龄妇女的MTHFR基因C667T位点检测结果,了解该地区育龄妇女的基因型和等位基因频率分布情况,并与我国其他区域汉族人群进行比较。结果本研究中MTHFR基因C667T位点的野生型(CC)、杂合突变型(CT)、纯合突变型(TT)分别占46.68%、43.36%、9.96%,突变等位基因T的频率为31.64%。与我国其他华东地区人群的基因多态性分布相比,厦门地区汉族女性MTHFR C667T位点的TT基因型和等位基因T的频率低于浙江湖州、浙江绍兴、江苏无锡、江苏苏州、安徽地区和山东潍坊地区,差异具有统计学意义(均P<0.05),而与江西九江地区则差异无统计学意义(均P>0.05);与华中地区相比,低于湖南湘潭、湖北武汉、湖北十堰、河南郑州和河南新乡,差异具有统计学意义(均P<0.05),而与湖南张家界地区差异无统计学意义(均P>0.05);明显低于位于东北地区的黑龙江齐齐哈尔、吉林延边和吉林长春,以及位于华北地区的山西、内蒙古呼伦贝尔、河北和位于西北地区的新疆、宁夏、陕西、甘肃(均P<0.05)。本研究中TT基因型频率明显高于处于华南地区的海南、广西南宁、广东江门、广东河源(均P<0.05),低于西南地区的贵州福泉、四川雅安(均P<0.05),而与西南地区贵州贵阳、云南昆明、云南大理、四川遂宁差异无统计学意义(均P>0.05);等位基因T的频率与西南地区的云南大理和昆明差异无统计学意义(P>0.05),低于贵州福泉和贵阳、四川遂宁和雅安(均P<0.05),明显高于华南地区的海南、广西南宁和柳州、广东江门和河源(均P<0.05)。结论厦门地区近1/3的汉族育龄妇女携带高风险基因。汉族育龄妇女人群MTHFR基因的多态性分布存在明显的地域差异,TT基因型分布与等位基因T的频率北部地区整体偏高于南部地区。

Objective To analyze the distribution of 5,10-methylenetetrahydrofolate reductase(MTHFR)gene polymorphism in the Han women of childbearing age in Xiamen area,and to guide the individualized supplement of folate.Methods The detection results of MTHFR gene C667T in 994 Han women of childbearing age in Xiamen treated at the Gynecological Clinic of Chenggong Hospital from July,2016 to August,2019 were analyzed retrospectively,so as to understand the distribution of genotypes and allele frequencies in this area;and the results were compared with the Han populations in other areas of China.Results In this study,the frequencies of wild type(CC),heterozygous mutant(CT),and homozygous mutant(TT)of MTHFR gene C667T were 46.68%,43.36%,and 9.96%,respectively;and the frequency of mutant allele T was 31.64%.The frequencies of TT genotype and allele T of MTHFR C667T locus were lower in the Han women in Xiamen than in those in Huzhou,Shaoxing,Wuxi,Suzhou,Anhui,and Weifang(all P<0.05),but the frequencies in the Han women in Xiamen were not statistically different from those in the Han women in Jiujiang of Jiangxi Province(both P>0.05);Compared with those in central China,the frequencies in the Han women in Xiamen were lower than those in the Han women in Xiangtan,Wuhan,Shiyan,Zhengzhou,and Xinxiang(all P<0.05),but were not statistically different from those in the Han women in Zhangjiajie(both P>0.05);and the frequencies in the Han women in Xiamen were significantly lower than those in the Han women in Qiqihar,Yanbian,Changchun,Shanxi,Hulunbuir,Hebei,Xinjiang,Ningxia,Shanxi,and Gansu(all P<0.05).In this study,the TT genotype frequency in the Han women in Xiamen was significantly higher than those in the Han women in Hainan,Nanning,Jiangmen,and Heyuan in South China(all P<0.05),and was lower than those in the Han women in Fuquan and Ya'an in Southwest China(both P<0.05),but were not statistically different from those in the Han women in Guiyang,Kunming,Dali,and Suining in Southwest China(all P>0.05).The allele T frequency in the Han women in Xiamen was not statistically different from those in the Han women in Dali and Kunming of Yunan(both P>0.05),was lower than those in the Han women in Fuquan in Guizhou and Suining and Ya’an in Sichuan(all P<0.005),and was higher than those in the Han women in Hainan,Nanning,Liuzhou,Jiangmen,and Heyuan in South China(all P<0.005).Conclusion Nearly one third of the Han women of childbearing age in Xiamen carry high-risk genes.The distribution of MTHFR gene polymorphism in Han women of childbearing age has obvious regional differences.The frequencies of TT genotype and allele T in the northern region is higher than those in the southern region.