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Updated: May 1, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association between MTHFR C677T and A1298C polymorphisms and NSCL/P risk in Asians: a meta-analysis
Mengmeng Zhao1, Yangwu Ren1, Li Shen1
1Department of Epidemiology, School of Public Health, China Medical University, Shenyang, Liaoning Province, China; Key Laboratory of Cancer Etiology and Intervention, University of Liaoning Province, Shenyang, China.
Objective:
Several 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.
Methods:
We 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.
Results:
Finally, 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.
Conclusions:
The MTHFR 677T allele was associated with an increased risk of NSCL/P in Asian populations.
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