Department of Biochemistry and Molecular Biology, Shanxi Medical University, Taiyuan, Shanxi 030001, China.
Chin Med J (Engl). 2013 Mar;126(5):865-9.
The 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are attractive candidates for screening for risk of neural tube defects (NTDs). The aim of the current study was to investigate maternal MTHFR and MS polymorphisms and the interaction between them and their influence on children with NTDs in the Shanxi Province of northern China.
Fifty-one mothers who previously had children with NTDs constituted the case group and 51 age-matched mothers with children that were unaffected by any birth defects constituted the control group. All subjects were genotyped for MTHFR C677T and MS A2756G polymorphisms. SPSS 11.5 software package was used for all analyses.
There was a significant difference for MTHFR genotype distribution for one site (C677T) between the case and control groups. The T allele frequencies were significantly higher in the case group than in the control group (55.9% vs. 35.3%, P < 0.05). A lack of association was observed for the MS A2756G polymorphism. There was an interaction between the maternal MTHFR C677T genotype and MS A2756G genotype.
Genetic interaction between MTHFR and MS genes raises the probability of neural tube defects.
5,10-亚甲基四氢叶酸还原酶（MTHFR）和蛋氨酸合成酶（MS）是筛查神经管缺陷（NTD）风险的有吸引力的候选基因。本研究的目的是探讨母体 MTHFR 和 MS 多态性及其相互作用及其对中国北方山西省 NTD 患儿的影响。
51 例曾生育 NTD 患儿的母亲为病例组，51 例年龄匹配的无出生缺陷患儿的母亲为对照组。所有受试者均进行 MTHFR C677T 和 MS A2756G 多态性基因分型。所有分析均采用 SPSS 11.5 软件包进行。
病例组和对照组在一个位点（C677T）的 MTHFR 基因型分布存在显著差异。病例组 T 等位基因频率明显高于对照组（55.9%比 35.3%，P < 0.05）。MS A2756G 多态性无相关性。母体 MTHFR C677T 基因型与 MS A2756G 基因型之间存在相互作用。
MTHFR 和 MS 基因的遗传相互作用增加了神经管缺陷的概率。
