Abstract

ObjectiveSeveral studies have reported the association between methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and nonsyndromic cleft lip with or without palate (NSCL/P) in Asian populations. However, findings have been conflicting. In order to investigate the association, a meta-analysis was performed.MethodsWe searched Pubmed, MedLine and EmBase database to selected eligible studies. The pooled odds ratios (ORs) with 95% confidence intervals (95%CIs) were calculated using fixed effects model or random effects model to assess the association between MTHFR polymorphisms and NSCL/P in both Asian children and mothers.ResultsFinally, nine case-control studies were included. Overall, the MTHFR C677T polymorphism and NSCL/P showed pooled ORs (95%CI) of 1.41(1.23–1.61) in Asian children, and 1.70(1.19–2.42) in Asian mothers. Subgroup analyses by geographical locations further identified the association in Eastern Asian children, Western/Central Asian children and mothers, but not in Eastern Asian mothers. However, no significant relationship between MTHFR A1298C polymorphism and NSCL/P was found in this meta-analysis.ConclusionsThe MTHFR 677T allele was associated with an increased risk of NSCL/P in Asian populations.

Highlights

  • Nonsymdromic cleft lip with or without palate (NSCL/P) is one of the most common congenital malformations of the head and neck area in the world, occurring in approximately 1 in every 700 live births [1]

  • Epidemiologic studies revealed that mothers who used multivitamins containing folic acid showed a lower risk of having an offspring with NSCL/P compared with mothers did not use multivitamins [3]

  • The findings suggested that methylenetetrahydrofolate reductase (MTHFR) C677T variant genotype increased the risk of NSCL/ P

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Summary

Introduction

Nonsymdromic cleft lip with or without palate (NSCL/P) is one of the most common congenital malformations of the head and neck area in the world, occurring in approximately 1 in every 700 live births [1]. Epidemiologic studies revealed that mothers who used multivitamins containing folic acid showed a lower risk of having an offspring with NSCL/P compared with mothers did not use multivitamins [3]. It is still unknown which ingredients in multivitamins contribute to this risk reduction. Several studies have reported a reduced risk of NSCL/P when mothers used either folic acid supplements or dietary folate during pregnancy [4,5]. Genetic variations in folate metabolism gene were believed to affect individual susceptibility to NSCL/P

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