title: Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India.
abstract: To investigate the role of four parental folate pathway single nucleotide polymorphisms (SNPs) i.e., methylene tetrahydrofolate reductase (MTHFR) 677C>T, MTHFR 1298A>C, methionine synthase reductase (MTRR) 66A>G and glutamate carboxypeptidase (GCP) II 1561C>T on susceptibility to neural tube defects (NTDs) in 50 couples with NTD offspring and 80 couples with normal pregnancy outcome.
  
  
  
  Maternal MTHFR 677C-->T (odds ratio (OR): 2.69, 95% confidence interval (CI): 1.35-5.34) and parental GCP II 1561C-->T (maternal: OR: 1.89, 95% CI: 1.12-3.21 and paternal: OR: 3.23, 95% CI: 1.76-5.93) were found to be risk factors for a NTD. Both paternal and maternal GCP II T-variant alleles were found to interact with MTHFR 677T- and MTRR G-variant alleles in increasing the risk for NTD. Segregation of data based on type of defect revealed an association between maternal 677T-allele and meningomyelocele (OR: 9.00, 95% CI: 3.77-21.55, P<0.0001) and an association between parental GCP II 1561T-allele and anencephaly (maternal: OR: 2.25, 95% CI: 1.12-4.50, P<0.05 and paternal: OR: 4.26, 95% CI: 2.01-9.09, P<0.001).
  
  
  
  Maternal MTHFR C677T and parental GCP II C1561T polymorphisms are associated with increased risk for NTDs. Apart from individual genetic effects, epistatic interactions were also observed.
authors.affiliation: Division of Diagnostic, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India. naushadsm@gmail.com
authors.forename: Shaik Mohammad
authors.initials: SM
authors.lastname: Naushad
authors.forename: Akella Radha Rama
authors.initials: AR
authors.lastname: Devi
mesh_terms: D000328:Adult; D002268:Carboxypeptidases / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000235:genetics*; D005492:Folic Acid / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009436:Neural Tube Defects / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D005492:Folic Acid; C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D002268:Carboxypeptidases; C026134:glutamate carboxypeptidase