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 Cristinedos Santos, Antunes, Leonardo Santos, Romano, Fábio Lourenço, Zambuzzi, Willian Fernando [UNESP], Granjeiro, José Mauro, Küchler, Erika Calvano
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNESP
• Texto Completo: http://dx.doi.org/10.1590/0103-6440201300394; http://hdl.handle.net/11449/168292
• topic: Cleft lip and/or palate; Folic acid; Genetic polymorphisms; MTRR gene; Subphenotypes; TCN2 gene; Vitamin B12

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.