Correlation analysis about folate metabolism-related genes of pregnant women with fetal congenital defects

Gefei XIAO; Xiaojun MENG; Lingling HU; Haiyun DENG; Yanling ZHAO; Hongqiu WU

白话标题:孕妇叶酸代谢相关基因与胎儿先天缺陷的相关性研究
作者: Gefei XIAO ; Xiaojun MENG ; Lingling HU ; Haiyun DENG ; Yanling ZHAO ; Hongqiu WU
出版类型:Journal Article
关键字: 5,10-methylenetetrahydrofolate reductase (FADH2)/GE; 5-methyltetrahydrofolatehomocysteine S-methyltransferase/GE; Congenital,hereditary,and neonatal diseases and abnormalities/GE; Polymorphism,genetic
来源: Journal of Chinese Physician 2016;18(7):1021-1024
国家China
语言:Chinese
摘要: Objective To investigate the relationship between folate metabolism-related gene polymorphism and fetal congenital defects,and discuss the effect of genetic factors on fetal congenital defects.Methods Retrospective analysis was used to investigate the genotype and gene frequency of 5,1O-methylenetetrahydrofolate reductase (MTHFR) C677T,A1298C gene loci and ethionine synthase reductase (MTRR) A66G gene locus in 132 cases of adverse pregnancy pregnant women (case group) and 150 cases normal pregnant women (control group) at the same period.The statistical differences were analyzed between the levels of their serum folate,vitamin B12 (Vit B12) and homocysteine (HCY).Results In the serum of case group,folate was positively correlated with Vit B12,and was negatively correlated with HCY,only HCY of skeletal system defects(6 cases) was higher (t =3.409,P ＜ 0.05).Comparing genotypes frequency of the MTHFR C677T,A1298C gene loci and MTRR A66G gene locus in case group with control group,the difference above was not statistically significant (P ＞ 0.05).In these three gene loci C/T,A/C and A/G allele frequency with the control group,the difference above was not statistically significant (all P ＞ 0.05).Different genotype combinations of MTHFR C667T and A1298C gene loci in control groups had no statistically different from the control group (P ＞ 0.05),and there was no synergy.Conclusions Maternal folate metabolism-related MTHFR and MTRR genes polymorphisms can affect the metabolic products levels accordingly.However,the correlation between the changes and the genetic mechanism of fetal congenital defects needs more large samples study in depth.