Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.

The methylenetetrahydrofolate dehydrogenase (MTHFD1) gene, as one of the key genes involved in the folate pathway, has been reported to play a critical role in the pathogenesis of neural tube defects (NTDs). However, the results of published studies are contradictory and inconclusive. Thus, this met...

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Main Authors: Jianxin Jiang, Yanfei Zhang, Liang Wei, Zhiyang Sun, Zhongmin Liu
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4076264?pdf=render
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author Jianxin Jiang
Yanfei Zhang
Liang Wei
Zhiyang Sun
Zhongmin Liu
author_facet Jianxin Jiang
Yanfei Zhang
Liang Wei
Zhiyang Sun
Zhongmin Liu
author_sort Jianxin Jiang
collection DOAJ
description The methylenetetrahydrofolate dehydrogenase (MTHFD1) gene, as one of the key genes involved in the folate pathway, has been reported to play a critical role in the pathogenesis of neural tube defects (NTDs). However, the results of published studies are contradictory and inconclusive. Thus, this meta-analysis aimed to evaluate the effect of the common polymorphism in the MTHFD1 gene, the G1958A (R653Q, dbSNP ID: rs2236225) variant, on the risk of NTDs in all eligible studies.Relevant literature published before January 3, 2014 was retrieved from the MEDLINE, EMBASE, Cochrane Library, and CBM databases. Pooled crude odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) were calculated to evaluate the association between the MTHFD1 G1958A polymorphism and NTDs risk.We performed a meta-analysis of nine studies with a total of 4,302 NTDs patients and 4,238 healthy controls. Our results demonstrated a significant correlation between the MTHFD1 G1958A polymorphism and NTDs in an overall meta-analysis. For family-based studies, the study subjects were classified as NTD cases, mothers with NTDs offspring, and fathers with NTDs offspring. We found no association between any of the fathers' genotypes and NTDs, whereas there was a clear excess of the 1958A allele in the mothers of children with NTDs compared with controls individuals.In summary, our meta-analysis strongly suggests that the MTHFD1 G1958A polymorphism might be associated with maternal risk for NTDs in Caucasian populations. However, the evidence of this association should be interpreted with caution due to the selective nature of publication of genetic association studies.
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spelling doaj.art-12f10c682d1f40e28ab3528488bff76c2022-12-21T18:18:38ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0196e10116910.1371/journal.pone.0101169Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.Jianxin JiangYanfei ZhangLiang WeiZhiyang SunZhongmin LiuThe methylenetetrahydrofolate dehydrogenase (MTHFD1) gene, as one of the key genes involved in the folate pathway, has been reported to play a critical role in the pathogenesis of neural tube defects (NTDs). However, the results of published studies are contradictory and inconclusive. Thus, this meta-analysis aimed to evaluate the effect of the common polymorphism in the MTHFD1 gene, the G1958A (R653Q, dbSNP ID: rs2236225) variant, on the risk of NTDs in all eligible studies.Relevant literature published before January 3, 2014 was retrieved from the MEDLINE, EMBASE, Cochrane Library, and CBM databases. Pooled crude odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) were calculated to evaluate the association between the MTHFD1 G1958A polymorphism and NTDs risk.We performed a meta-analysis of nine studies with a total of 4,302 NTDs patients and 4,238 healthy controls. Our results demonstrated a significant correlation between the MTHFD1 G1958A polymorphism and NTDs in an overall meta-analysis. For family-based studies, the study subjects were classified as NTD cases, mothers with NTDs offspring, and fathers with NTDs offspring. We found no association between any of the fathers' genotypes and NTDs, whereas there was a clear excess of the 1958A allele in the mothers of children with NTDs compared with controls individuals.In summary, our meta-analysis strongly suggests that the MTHFD1 G1958A polymorphism might be associated with maternal risk for NTDs in Caucasian populations. However, the evidence of this association should be interpreted with caution due to the selective nature of publication of genetic association studies.http://europepmc.org/articles/PMC4076264?pdf=render
spellingShingle Jianxin Jiang
Yanfei Zhang
Liang Wei
Zhiyang Sun
Zhongmin Liu
Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.
PLoS ONE
title Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.
title_full Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.
title_fullStr Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.
title_full_unstemmed Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.
title_short Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.
title_sort association between mthfd1 g1958a polymorphism and neural tube defects susceptibility a meta analysis
url http://europepmc.org/articles/PMC4076264?pdf=render
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