秦皇岛地区汉族人群亚甲基四氢叶酸还原酶 C677T基因多态性分析

The polymorphism of methylenetetrahydrofolate reductase gene C677T in Han population in Qinhuangdao

目的研究分析亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)C677T在秦皇岛地区汉族人群的基因多态性和分布特征。方法采用Taqman-MGB技术检测秦皇岛民利众和健康管理中心2018年12月至2019年2月425例体检者MTHFR C677T基因型,并基于性别特征分析MTHFR C677T的基因型和等位基因频率,同时回顾性分析秦皇岛地区和其他地区汉族人群MTHFR C677T基因多态性的差异。结果秦皇岛地区人群677CC、677CT、677TT基因型频率分别为29.41%,42.59%和28.00%;MTHFR 677 C/T等位基因型频率为50.71%和49.29%,基因型和等位基因频率在男性和女性之间差异无统计学意义(P>0.05)。基因型和等位基因频率与其北方其他地区差异有统计学意义(P<0.05),其中等位基因频率与北京地区相比差异无统计学意义(P>0.05)。结论秦皇岛地区人群MTHFR C677T基因多态性无性别间差异,区别于北方其他地区,具有自身特点。

Objective To elucidate the distribution characteristics of methylenetetrahydrofolate reductase(MTHFR)gene C677 T polymorphism in Han population in Qinhuangdao.Methods Taqman-MGB real time PCR was used to determine the genotypes of MTHFR C677 T in 425 individuals who received physical examinations in MZ Healthcare Center in Qinhuangdao from December 2018 to February 2019.The distribution features of MTHFR C677 T genotypes and allele frequencies were analyzed,and the difference of MTHFR C677 T polymorphism between local Han population and Han population from other areas was compared.Results The frequencies of CC,CT and TT genotype of MTHFR C677 T in Qinhuangdao Han population were 29.41%,42.59%and 28.00%,respectively,and C/T allele frequencies were 50.71%and 49.29%.There were no differences in genotype and allele frequency between male and female subjects(P>0.05).However,significantly differences were found in genotype and allele frequency between Han population in Qinhuangdao and those from other areas of northern China(P<0.05).Interestingly,the differences in the C/T allele frequencies were not statistically significant compared with those from Beijing(P>0.05).Conclusions The genotype distribution of MTHFR C677 T in Han population in Qinhuangdao is unique,different from that in the northern areas and similar between males and females.