Banca de QUALIFICAÇÃO: MARIA LEILA CARDOSO

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
DISCENTE: MARIA LEILA CARDOSO
DATA: 27/09/2011
HORA: 09:00
LOCAL: Sala de Aula do PPGCSa, 2° andar do CCS
TÍTULO:

NO ASSOCIATION BETWEEN POLYMORPHISMS OF MSX1 AND NON-SYNDROMIC CLEFT LIP AND/OR PALATE

PALAVRAS-CHAVES:

Non-syndromic cleft lip and/or palate; MSX1; TaqMan allelic discrimination

PÁGINAS: 32
GRANDE ÁREA: Ciências da Saúde
ÁREA: Farmácia
RESUMO:

Background: A cleft lip with or without a cleft palate (CL/P) is a common congenital anomaly. Muscle segment homeobox gene 1 (MSX1) gene has emerged as a potential susceptibility gene for non-syndromic cleft lip and/or palate (NSCL/P) in different populations. The aim of this study was to investigate the contribution of 3 polymorphic variants of the MSX1 gene in NSCL/P. We also studied the contribution of gender, maternal alcohol consumption and smoking during pregnancy as etiologic factors. Methods: Blood samples were collected, and genomic DNA was extracted from 340 individuals and genotyped by TaqMan allelic discrimination. We obtained pregnancy history data from the mothers of consecutive patients and investigated the family history of clefts, maternal smoking and alcohol consumption. Statistical analyses were conducted using the software SPSS 15.0 and the R statistical suite. A p value of 0.05 and confidence interval of 95% were used in all of the statistical tests. Results: The overall genotype distributions of the single-nucleotide polymorphisms (SNPs) rs3775261, rs1042484 and rs12532 were as expected according to the Hardy-Weinberg equilibrium test. The results demonstrate that none of the MSX1 SNPs (rs3775261, rs1042484 and rs12532) showed significant associations with oral clefts (p > 0.05). Analysis revealed that males have a 1.69-fold higher risk (95% CI: 1.08 - 2.65, p = 0.023) of developing oral clefts. Maternal alcohol consumption during pregnancy increased the risk for the emergence of oral clefts in children by 3.64-fold (95% CI: 1.6 - 8.3, p = 0.002). Conclusions: The present study provides evidence that MSX1 polymorphisms (rs3775261, rs1042484 and rs12532) do not support a major role in NSCL/P and the environmental factors study suggests that alcohol intake during pregnancy plays a role in NSCL/P etiology.

MEMBROS DA BANCA:
Presidente - 2323511 - ADRIANA AUGUSTO DE REZENDE
Externo ao Programa - 1149540 - ANGELO GIUSEPPE RONCALLI DA COSTA OLIVEIRA
Externo ao Programa - 1674709 - VIVIANE SOUZA DO AMARAL