北京地区汉族人群MTHFR C677T基因多态性分析

Analysis for polymorphism of MTHFR C677T gene in Han population in Beijing

目的探索北京地区汉族MTHFR基因多态性分布特征,荟萃(meta)分析北京地区与北方其他地区MTHFR基因多态性分布差异。方法用PCR-金磁微粒层析法检测MTHFR C677T基因,回顾性分析北京协和医院2014年9月至2018年5月3 945例体检健康者MTHFR基因多态性分布特征。查阅中外文献数据库,并对北京地区与北方其他地区汉族的MTHFR基因多态性分布比较。结果北京地区体检健康人群男性MTHFR C677T基因CC、CT和TT基因型频率分别为23.3%,50.5%和26.2%,C、T等位基因频率分别为48.6%和51.4%。女性人群MTHFR C677T基因CC、CT和TT基因型频率分别为22.7%,49.4%和27.9%,C、T等位基因频率分别为47.4%和52.6%,男、女性基因型频率与等位基因频率差异无统计学意义(P>0.05)。北京地区体检人群MTHFR C677T基因CC、CT和TT基因型频率与等位基因频率均与黑龙江、吉林、河北、山东和河南等省差异有统计学意义(P<0.01)。结论北京地区体检人群MTHFR C677T基因多态性在男、女性人群中的分布无差异;北京地区MTHFR基因分布有自身特点。

Objective To explore the distribution characteristics of MTHFR gene polymorphism of Chinese Han population in Beijing,and analyze the differences of distribution of MTHFR gene polymorphism between Beijing area and the other parts of northern China.Methods MTHFR C677T gene was detected by PCR-gold magnetic particles chromatography.The distribution characteristics of MTHFR gene polymorphism of 3 945 healthy subjects from September 2014 to May 2018 detected in Peking Union Medical College Hospital were analyzed retrospectively.The distribution of MTHFR gene polymorphism in Chinese Han population in Beijing area was compared with the Han population of the other area from northern China by reviewing domestic and foreign literature databases.Results The frequencies of CC,CT and TT genotype of MTHFR C677T gene in the male population undergoing physical examination in Beijing were23.3%,50.5%and 26.2%,respectively,and the frequencies of C and T allele frequencies were 48.6%and 51.4%,respectively.The frequencies of CC,CT and TT genotype of MTHFR C677T gene in the female population were 22.7%,49.4%and 27.9%,respectively,and the C and T allele frequencies were 47.4%and 52.6%,respectively.There was no difference in genotype frequency and allele freaaency between male and femal(P>0.05).The frequencies of CC,CT and TT genotypes and allele frequencies of MTHFR C677T gene in the population of Beijing area were significantly different from those of Heilongjiang,Jilin,Hebei,Shandong and Henan provinces(P<0.01).Conclusion There was no significant difference of polymorphism distribution of MTHFR C677T gene between male and female populations in Beijing.The distinct distribution characteristics of MTHFR gene in Beijing area should be presented.