武汉市健康体检人群MTHFR C677T基因多态性与血浆同型半胱氨酸水平的关系

Association of MTHFR C677T gene polymorphism and Homocysteine levels among physical examinees in Wuhan

目的研究亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase, MTHFR)C677T基因多态性的分布,及与血浆同型半胱氨酸(homocysteine, Hcy)水平的相关性。方法采用PCR-芯片杂交法技术检测MTHFR C677T基因多态性,采用酶循环法检测血浆Hcy。根据性别、年龄、地区特征分析C677T基因型和等位基因频率分布特点,并比较C677T基因型与血浆Hcy水平的关系。结果武汉地区1 076名体检人员中,不同性别间C677T基因型分布差异无统计学意义(χ^(2)=2.236,P>0.05);不同年龄人群C677T基因型分布差异无统计学意义(χ^(2)=4.225,P>0.05);与北京、延边、深圳地区比较,武汉地区C677T基因多态性分布差异均有统计学意义(P<0.05);3种不同C677T基因型的血浆Hcy水平差异有统计学意义(χ^(2)=64.824,P<0.01)。结论武汉地区MTHFR C677T基因多态性分布不受性别和年龄的影响,但具有地域特异性,677TT基因型与血浆Hcy的升高密切相关。

Objective To study the distribution of methylenetetrahydrofolate reductase(MTHFR)C677 T gene polymorphism and its correlation with plasma homocysteine(Hcy)levels.Methods The MTHFR C677 T gene polymorphism was detected by PCR chip-hybridization,and plasma Hcy levels were tested by the enzyme cycling method.The distribution features of the C677 T genotype and allele frequencies were analyzed,furthermore,the differences between the C677 T genotype and plasma Hcy levels were compared.Results There was no significant difference in C677 T genotype distribution between males and females among the 1076 health examination personnel in Wuhan(χ^(2)=2.236,P>0.05).It showed no statistical difference in the distribution of the C677 T genotype among different age groups as well(χ^(2)=4.225,P>0.05).As compared with Beijing,Yanbian,and Shenzhen regions,there were statistically significant differences in the distribution of C677 T gene polymorphism in the Wuhan region(P<0.05).The differences of plasma Hcy levels among the three C677 T genotypes were statistically significant(χ^(2)=64.824,P<0.01).Conclusion The distribution of MTHFR C677 T gene polymorphism in the Wuhan area is not affected by gender and age,but it has geographical specificity,and the 677 TT genotype is closely related to the increase of plasma Hcy.