Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate

• Autor(a) principal: Waltrick-Zambuzzi,Márcia
• Data de Publicação: 2015
• Outros Autores: Tannure,Patricia Nivoloni, Vieira,Thays Cristine dos Santos, Antunes,Leonardo Santos, Romano,Fábio Lourenço, Zambuzzi,Willian Fernando, Granjeiro,José Mauro, Küchler,Erika Calvano
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Brazilian Dental Journal
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-64402015000600561
• topic: cleft lip and/or palate; vitamin B12; folic acid; MTRR gene; TCN2 gene; genetic polymorphisms; subphenotypes

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