title: The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela.
abstract: Non-syndromic cleft lip with or without cleft palate (nsCL/P) is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, encoding methylenetetrahydrofolate reductase, which catalyzes the rate-limiting step of folic acid biosynthesis, have shown inconsistent association of two common hypomorphic allelic variants, C677T and A1298C, in nsCL/P patients and, in some cases, their mothers. We have studied the MTHFR C677T and A1298C polymorphisms in nsCL/P patients, their mothers, and population-matched controls from northern Venezuela. We found no evidence for contribution of the MTHFR C677T and A1298C variants to the risk of nsCL/P in northern Venezuela. Overall, our findings fail to support a causal role of either the MTHFR C677T or A1298C variants in the pathogenesis of nsCL/P in northern Venezuela.
authors.affiliation: Department of Medical Biology, School of Medicine, Afyon Kocatepe University, Afyonkarahisar, 03200 Turkey. masozen@hotmail.com
authors.forename: Mehmet A
authors.initials: MA
authors.lastname: Sözen
authors.forename: Marie M
authors.initials: MM
authors.lastname: Tolarova
authors.forename: Richard A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D016022:Case-Control Studies; D002971:Cleft Lip / Q000201:enzymology / Q000235:genetics*; D002972:Cleft Palate / Q000201:enzymology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)