Open AccessNull association of maternal MTHFR A1298C polymorphism with Down syndrome pregnancy: An updated meta-analysis
Author(s) -
Vandana Rai,
Upendra Yadav,
Pradeep Kumar
Publication year - 2017
Publication title -
the egyptian journal of medical human genetics /the egyptian journal of medical human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.253
H-Index - 17
eISSN - 2090-2441
pISSN - 1110-8630
DOI - 10.1016/j.ejmhg.2016.04.003
Subject(s) - methylenetetrahydrofolate reductase , odds ratio , meta analysis , medicine , homocysteine , confidence interval , subgroup analysis , gastroenterology , case control study , genetic model , pregnancy , genotype , genetics , biology , gene
BackgroundMethylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate/homocysteine pathway and is essential for DNA synthesis and methylation. MTHFR gene polymorphisms have been reported as risk factors for congenital defects and several metabolic and neurological disorders. Several studies have investigated an association between maternal MTHFR A1298C polymorphism and Down syndrome (DS) child. However, results have been inconclusive.AimA meta-analysis of published case–control studies up to December, 2015 was performed to investigate this association.MethodsElectronic databases were searched for case–control studies and odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association. Total twenty-one case–control studies with 2004 cases and 2523 controls were included in the present meta-analysis.ResultsResults of meta-analysis showed a significant association between maternal A1298C polymorphism and DS pregnancy with homozygote model (CC vs. AA: OR=1.26, 95% CI=1.01–1.58, p=0.04), but no such association was found in any other genetic models (C vs. A: OR=1.07, 95% CI=0.93–1.23, p=0.32; CC+AC vs. AA: OR=1.08, 95% CI=0.96–1.23, p=0.18; CC vs. AC+AA: OR=1.11, 95% CI=0.90–1.36, p=0.30; AC vs. AA: OR=1.06, 95% CI=0.93–1.21, p=0.34).ConclusionSubgroup and sensitivity analysis results showed that this polymorphism is a risk factor for DS pregnancy in Asian populations but not in Caucasian population as well as in overall meta-analysis