title: Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.
abstract: OBJECTIVE
  Nonsyndromic cleft lip and palate (NSCLP) is genetically distinct from those with syndromic clefts, and accounts for ~70% of cases with Oral clefts. Folate, or vitamin B9, is an essential nutrient in our diet. Allelic variants in genes involved in the folate pathway might be expected to have an impact on risk of oral clefts. Given the key role of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) in folate metabolism, it would be of significant interest to assess its role in NSCLP etiology.
  
  
  METHODS
  The present study aims at examining the association between MTHFD1 1958G>A polymorphism and NSCLP risk by conducting a case-control study in south Indian population. Our sample comprised of 142 cases with nonsyndromic clefts and 141 controls without clefts or family history of clefting. The MTHFD1 1958G>A polymorphism was genotyped using PCR-RFLP.
  
  
  RESULTS
  An increased risk was found for the heterozygous 1958GA (OR=2.44; P=0.020) and homozygous 1958AA (OR=2.45; P=0.012) genotypes in the children. When the dominant model (AG+AA vs GG) was applied the risk remained the same as co-dominant model, but the level of significance increased (OR=2.44; P=0.002).
  
  
  CONCLUSIONS
  The results indicated the MTHFD1 1958G>A polymorphism to be one of the important genetic determinants of NSCLP risk in South Indian subjects.
authors.affiliation: Department of Biomedical Sciences, Sri Ramachandra University, No.1 Ramachandra Nagar, Porur, Chennai - 600 116, lvksbhaskar@gmail.com.
authors.forename: Jyotsna
authors.initials: J
authors.lastname: Murthy
authors.forename: Venkatesh-Babu
authors.initials: VB
authors.lastname: Gurramkonda
authors.forename: Bhaskar V K S
authors.initials: BV
authors.lastname: Lakkakula
mesh_terms: D001921:Brain / Q000002:abnormalities*; D016022:Case-Control Studies; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007194:India; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics*; D015778:Minor Histocompatibility Antigens; D020641:Polymorphism, Single Nucleotide
chemical_list: D015778:Minor Histocompatibility Antigens; C539735:MTHFD1 protein, human; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP)