Associação entre as fissuras labiopalatais e os genes AXIN2 e IRF6

Abstract

Cleft lip and/or palate (CL/P) is the most common craniofacial anomaly in humans. The etiology is multifactorial and several genes and environmental factors are associated with this anomaly. Some studies consider the CL/P as part of a wide phenotype, in which additional features, such as others developmental craniofacial alterations, could be used as a clinical marker for genetic studies of CL/P. AXIN2 and IRF6 are among the candidates genes for CL/P, due to the important function of these genes during the development. The aim of this study was to evaluate the association between polymorphisms in genes AXIN2 and IRF6, and CL/P phenotypes and subphenotypes. Two hundred and forty-six individuals with CL/P (cases) and 227 (control) unrelated individuals, without a positive history of CL/P in the family were examined. Saliva samples were collected as a source of genomic DNA. A total of 3 polymorphisms, 2 in AXIN2 and 1 in IRF6 were studied by real time PCR, TaqMan method. The Odds Ratio and chi-square or Fisher exact test were performed for statistical analyses. The AXIN2 polymorphisms were associated with specifics subphenotypes of CL/P, for statistical analyses. There was not association between the alleles and genotypes of IRF6 and CL/P. These results suggest that AXIN2 is involved in the etiology of specific subgroups of CL/P.