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

Brazilian Dental Journal

Márcia Waltrick-zambuzzi¹  Patricia Nivoloni Tannure¹  Thays Cristine Dos Santos Vieira¹  Leonardo Santos Antunes¹  Fábio Lourenço Romano¹  Willian Fernando Zambuzzi¹  José Mauro Granjeiro¹  Erika Calvano Küchler¹ 

关键词: cleft lip and/or palate;    vitamin B12;    folic acid;    MTRR gene;    TCN2 gene;    genetic polymorphisms;    subphenotypes;   

DOI  :  10.1590/0103-6440201300394

来源: SciELO

【 摘 要 】

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

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