孕期妇女MTHFR、MTRR基因多态性与同型半胱氨酸水平的关系  

The relationship between MTHFR and MTRR gene polymorphisms of pregnant women and Plasma homocysteine level

作　　者：陈雪[1] 郝胜菊[1] 张翰儒[1] 王兴[1] 金莉娅[1] 闫有圣[1] 吕玲[1] 

机构地区：[1]甘肃省妇幼保健院,兰州730000

出　　处：《中国优生与遗传杂志》2017年第7期23-26,42,共5页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析甘肃省孕期妇女N5,10-亚甲基四氢叶酸还原酶(N5,10-methylenetetrahydrofolate reductase,MTHFR)C677T、A1298C及甲硫氨酸合成酶还原酶(5-methyltetrahydrofolate-homocysteine methyltransferasereductase,MTRR)A66G位点基因多态性的分布特点,并研究其多态性与血浆同型半胱氨酸(Homocysteine,Hcy)浓度的相关性,为孕期妇女补服叶酸提供理论依据。方法以2016年在甘肃省妇幼保健院做孕期检查的522例孕妇为研究对象,检测MTHFR基因C677T、A1298C和MTRR基因A66G位点的基因型,并测定血浆Hcy浓度,应用t检验与Spearman秩检验比较不同基因型间Hcy浓度的差异。结果 MTHFR基因C677T位点CC型、CT型与TT型分别占26.83%、45.12%、28.05%,A1298C位点AA型、AC型、CC型分别占68.29%、26.83%、4.88%。MTRR基因A66G位点AA型、AG型与GG型分别占53.66%、39.02%、7.32%。MTHFR基因C677T位点等位基因C占49.39%,等位基因T占50.61%,A1298C位点等位基因A占81.71%,C占18.29%。MTRR基因A66G位点等位基因A占73.17%,等位基因G占26.83%。MTHFR基因C677T位点CC型、CT型与TT型Hcy含量分布经两两t检验,P<0.05,说明各基因型间Hcy分布差异均有统计学意义。MTHFR基因A1298C位点AA型、AC型、CC型,MTRR基因A66G位点AA型、AG型与GG型Hcy含量分布经两两t检验,P>0.05,说明各基因型间Hcy分布差异无统计学意义。MTHFR基因C677T、A1298C和MTRR基因A66G位点多态性各风险组经两两t检验,与未发现风险组比较,低度风险组、中度风险组、高度风险组P均小于0.05,差异具有统计学意义;与低度风险组比较,中度风险组、高度风险组P均大于0.05,差异没有统计学意义;与中度风险组比较,高度风险组P小于0.05,差异有统计学意义。根据Spearman秩相关检验,P<0.05,Hcy含量与风险等级具有显著相关性。结论 MTHFR基因C677T、A1298C和MTRR基因A66G位点存在基因多态性,MTHFR基因C677T、A1298C和MTRR基因A66G位点基因多态性与血浆Hcy具有显著相关Objective： To analyze the genotype distribution of 5, 10-methylenetetrahydrofolate reductase （MTHFR） and 5-methyltetrahydrofolate-homocysteine methyltransferase reductase （MTRR） among Chinese pregnant women in Gansu province and to research the association between gene polymorphism and homocysteine （Hcy） concentration and to provide a theoretical basis for add folic acidto the pregnant women. Methods： The study was conducted in 522 pregnant women who were examined during pregnancy in Gansu Province Maternity and Child-care Hospital. By detecting the genotype of MTHFR C677T, MTHFR A1298C and MTRR A66G and Hcyconcentration, to compared differences between Hcy concentration and gene polymorphis by the t test and the Spearman rank test. Results： The frequency of the MTHFR C677T CC genotypes, CT genotypes, TT genotypes was accounted for 26.83%, 45.12%, 28.05%, and the MTHFR A1298CAA genotypes, AC genotypes, CC genotypes was accounted for68.29%, 26.83%, 4.88%, and the MTRR A66GAA genotypes, AG genotypes, GG genotypes was accounted for53.66%, 39.02%, 7.32%. The frequency of the MTHFR C677T allele Cwas accounted for49.39% and alleleT was accounted for50.61%. The frequency of the MTHFR A1298CalleleAwas accounted for81.71%, and allele Cwas accounted for18.29%.The frequency of the MTRR A66Gallele Awas accounted for73.17%, and alleleGwas accounted for26.83%. For the MTHFR C667T CCgenotypes, CTgenotypes, TTgenotypes, the distribution of Hcy in the genotype was statistically significant （P〈0.05） . For the MTHFR A1298C AA genotypes, AC genotypes, CC genotypes, the MTRR Af6G AA genotypes, AG genotypes and GG genotypes, the distribution of Hcy in the genotype was not statistically significant （P〉0.05） . The MTHFR C677T, the MTHFR A1298C and the MTRR A66G polymorphism were compared with the two-t test in each risk group. Compared with the non-found risk group, the low risk group, moderate risk group and high risk group, the difference was statistically significant （P〈0.05） . Compared with the l

关 键 词：MTHFR基因 MTRR基因 同型半胱氨酸 相关性研究 

分 类 号：R440[医药卫生—诊断学] R714[医药卫生—临床医学]