title: The MTHFD1 gene is not involved in cleft lip with or without palate onset among the Italian population.
abstract: Nonsyndromic cleft lip with or without cleft palate (CL/P) is the most common orofacial malformation, having a non-Mendelian and multifactorial aetiology. It has been shown that polymorphic variants of genes encoding key proteins of folate and methionine metabolism might be important maternal risk factors for having a child with these craniofacial anomalies. The aim of this study was to evaluate the role of two polymorphisms of the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene, the A1958G and the G401A variants, on the risk of CL/P in the Italian population. A1958G and G401A polymorphism genotyping of MTHFD1 was performed on 216 CL/P triads, (patient and parents), for this study by restriction endonuclease digestion of PCR products. Linkage disequilibrium between markers and disease was tested using both pairwise and haplotype analyses. In our case-parents triad design no significant association between MTHFD1 and the disease is evident. Our data do not support MTHFD1 involvement in CL/P onset among the Italian population.
authors.affiliation: Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Palmieri
authors.forename: E
authors.initials: E
authors.lastname: Masiero
authors.forename: M
authors.initials: M
authors.lastname: Martinelli
authors.forename: L
authors.initials: L
authors.lastname: Scapoli
authors.forename: F
authors.initials: F
authors.lastname: Pezzetti
authors.forename: E
authors.initials: E
authors.lastname: Caramelli
authors.forename: L
authors.initials: L
authors.lastname: Guidotti
authors.forename: F
authors.initials: F
authors.lastname: Carinci
mesh_terms: D000483:Alleles; D002971:Cleft Lip / Q000201:enzymology* / Q000235:genetics*; D002972:Cleft Palate / Q000201:enzymology* / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium / Q000235:genetics; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D044465:White People / Q000235:genetics*
chemical_list: D008754:Methylenetetrahydrofolate Dehydrogenase (NADP)