Journal of
Medical Genetics and Genomics

  • Abbreviation: J. Med. Genet. Genomics
  • Language: English
  • ISSN: 2141-2278
  • DOI: 10.5897/JMGG
  • Start Year: 2009
  • Published Articles: 48

Full Length Research Paper

Meta-analysis of methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism and risk of orofacial cleft

Vandana Rai
  • Vandana Rai
  • Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur-222001, India.
  • Google Scholar

  •  Received: 31 March 2014
  •  Accepted: 10 June 2014
  •  Published: 31 July 2014


Polymorphisms in key genes involving the folate pathway have been reported to be associated with the risk of orofacial cleft (OFC) and several studies were published with conflicting results. A meta-analysis of the previous studies of allelic association between OFC with A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene was carried out. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association between MTHFR A1298C polymorphism and OFC risk. A total of 11 studies including 1628 cases and 2676 controls were involved in this meta-analysis. No statistical relationship was found with any genetic model (C vs. A (Additive): OR = 1.14, 95%CI = 0.76-1.65, P = 0.47; CC vs. AA (homozygote): OR = 0.90, 95%CI = 0.72-1.15, P = 0.0.41; AC vs. AA (co-dominant): OR = 0.97, 95%CI = 0.85-1.11, P = 0.0.63; CC+AC vs. AA (Dominant): OR = 0.96, 95%CI = 0.84-1.1 , P = 0.51; CC vs. AC+AA (Recessive): OR = 0.93, 95%CI = 0.74-1.16, P = 0.52). The present meta-analysis supports that the common A1298C polymorphism of MTHFR gene is not risk factor for OFC.


Key words: Orofacial cleft, cleft lip, cleft palate, methylenetetrahydrofolate reductase (MTHFR), A1298C, folic acid.


Orofacial cleft (OFC), methylenetetrahydrofolate reductase (MTHFR), C677T, S-adenosylmethionine (SAM).