title: Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate.
abstract: The aim of this study was to evaluate the association of the polymorphisms in TCN2 (rs1801198) gene and in MTRR (rs1801394) gene with nonsyndromic cleft lip and/or palate (NSCL/P) in a Brazilian population. Genomic DNA was extracted from buccal cells. The polymorphisms in TCN2 (rs1801198) and MTRR (rs1801394) genes were genotyped by carrying out real-time PCR and Taqman assay. Chi-square test was used to determine the association between genotype and allele frequencies with NSCL/P and NSCL/P subgroups (cleft lip only, cleft lip and palate, and cleft palate only). Eight hundred and sixty seven unrelated individuals (401 cases with NSCL/P and 466 individuals without cleft) were evaluated. Genotype distributions of TCN2 and MTRR polymorphisms were in Hardy-Weinberg equilibrium. The TCN2 polymorphic genotype GG was identified in 16.7% of the NSCL/P group and in 14.1% of the non-cleft group (p>0.05). Similarly, the frequency of MTRR genotype (GG) was similar in NSCL/P group (15.5%) and control group (17.8%) (p>0.05). Multivariate analysis showed an association between MTRR and the subgroup that the mother smoked during pregnancy (p=0.039). Our findings did not demonstrate an association between TCN2 polymorphisms and NSCL/P, however suggests an association between MTRR and NSCL/P etiology.
authors.affiliation: Clinical Research Unit, Antonio Pedro University Hospital, UFF - Universidade Federal Fluminense, Niterói, RJ, Brazil.
authors.forename: Márcia
authors.initials: M
authors.lastname: Waltrick-Zambuzzi
authors.affiliation: Dental School, Universidade Veiga de Almeida, Rio de Janeiro, RJ, Brazil.
authors.forename: Patricia Nivoloni
authors.initials: PN
authors.lastname: Tannure
authors.affiliation: Clinical Research Unit, Antonio Pedro University Hospital, UFF - Universidade Federal Fluminense, Niterói, RJ, Brazil.
authors.forename: Thays Cristine Dos Santos
authors.initials: TC
authors.lastname: Vieira
authors.affiliation: Clinical Research Unit, Antonio Pedro University Hospital, UFF - Universidade Federal Fluminense, Niterói, RJ, Brazil.
authors.forename: Leonardo Santos
authors.initials: LS
authors.lastname: Antunes
authors.affiliation: Department of Pediatric Clinic, School of Dentistry of Ribeirão Preto, USP - University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: Fábio Lourenço
authors.initials: FL
authors.lastname: Romano
authors.affiliation: Departament of Chemistry and Biochemistry, UNESP Universidade Estadual Paulista, Botucatu, SP, Brazil.
authors.forename: Willian Fernando
authors.initials: WF
authors.lastname: Zambuzzi
authors.affiliation: Clinical Research Unit, Antonio Pedro University Hospital, UFF - Universidade Federal Fluminense, Niterói, RJ, Brazil.
authors.forename: José Mauro
authors.initials: JM
authors.lastname: Granjeiro
authors.affiliation: Department of Pediatric Clinic, School of Dentistry of Ribeirão Preto, USP - University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: Erika Calvano
authors.initials: EC
authors.lastname: Küchler
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D014805:Vitamin B 12 / Q000378:metabolism*; D055815:Young Adult
chemical_list: D005492:Folic Acid; D014805:Vitamin B 12