佛山市汉族人群叶酸代谢通路关键酶基因MTHFR C677T多态性分布特征调查

目的 调查佛山市体检人群叶酸代谢障碍关键酶基因5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T位点基因多态性分布情况。方法 以佛山市182位女性和120位男性为研究对象,均为汉族人群,检测其MTHFR C677T基因位点多态性,分析性别、地域与基因多态性分布特征的关系。结果 调查的302例佛山市汉族人群MTHFR C677T位点CC、CT、TT基因型所占比例分别为62.6%、31.8%、5.6%,等位基因C、T所占比例分别为78.5%、21.5%。佛山市汉族男性与汉族女性MTHFR C677T位点多态性分布情况差异无统计学意义(P＞0.05)。佛山市汉族人群与已有数据报道的武汉、西安、长治、青岛、北京、乌鲁木齐等地的汉族人群的MTHFR C677T位点基因型、等位基因的分布情况差异均有统计学意义(P＜0.05)。佛山市汉族人群与回族、蒙族、维吾尔族、苗族MTHFR C677T位点基因型、等位基因的分布情况差异有统计学意义(P＜0.05),与布依族差异无统计学意义(P＞0.05)。结论 佛山市汉族人群MTHFR C677T位点多态性分布情况与其他地区、其他民族有显著差异,在实施个性化日常保健措施时可将遗传因素纳入考虑。

Distribution characteristics of single nucleotide polymorphisms of folic acid metabolism pathway key enzyme gene MTHFR C677T among the Han population in Foshan City

Objective To investigate the distribution of single nucleotide polymorphisms (SNPs) of folic acid metabolism pathway key enzyme gene methylenetetrahydrofolate reductase (MTHFR) C677T in the Han population in Foshan City. Methods We recruited 182 females and 120 males among the Han population in Foshan City to serve as the research subjects. Gene polymorphisms of MTHFR C677T were detected, and their association with gender and region was analyzed. Results The proportions of MTHFR C677T genotypes CC, CT and TT in 302 Han persons in Foshan City were 62.6%, 31.8% and 5.6% respectively, and the proportions of alleles C and T were 78.5% and 21.5% respectively. No statistically significant difference was found in the distribution of MTHFR C677T genotypes between males and females (P>0.05). The distribution of MTHFR C677T genotypes and alleles in the Han persons in Foshan City was statistically different from the reported data of the Han population in Wuhan, Xi’an, Changzhi, Qingdao, Beijing and Urumqi (P<0.05) as well as that in Hui, Mongolian, Uygur and Miao nationalities (P<0.05), but was not statistically different from that in Buyi nationality (P>0.05). Conclusions The difference is statistically significant in the distribution of MTHFR C677T gene polymorphisms in the Han persons in Foshan City as compared with that in other regions and nationalities. Genetic factors can be taken into account in the implementation of personalized routine health measures.