MSX1 gene polymorphisms in non-syndromic cleft lip and/or palate

Autor(es):Mostrar menos -

Cardoso, M. L. ^[1] ; Bezerra, J. F. ^[1] ; Oliveira, G. H. M. ^[1] ; Soares, C. D. ^[1] ; Oliveira, S. R. ^[2] ; de Souza, K. S. C. ^[1] ; da Silva, H. P. V. ^[1] ; Silbiger, V. N. ^[1] ; Luchessi, A. D. ^[3] ; Fajardo, C. M. ^[3] ; Hirata, R. D. C. ^[3] ; Almeida, M. G. ^[1] ; Hirata, M. H. ^[3] ; Rezende, A. A. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Rio Grande do Norte, Dept Clin & Toxicol Anal, Sch Pharmaceut Sci, BR-59072970 Natal, RN - Brazil

^[2] Univ Fed Rio Grande do Norte, Pediat Hosp Prof Heriberto Bezerra, Care Programme Children Cleft Lip & Palate, BR-59072970 Natal, RN - Brazil

^[3] Univ Sao Paulo, Sch Pharmaceut Sci, Dept Clin & Toxicol Anal, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: ORAL DISEASES; v. 19, n. 5, p. 507-512, JUL 2013.
• Citações Web of Science: 16

Resumo

OBJECTIVE: The aim of this study was to investigate the contribution of 6 polymorphic variants of the MSX1 gene in non-syndromic cleft lip and/or palate (NSCL/P). METHODS: Three hundred and fifty-eight individuals (158 NSCL/P cases and 200 controls) were genotyped by TaqMan allelic discrimination using predesigned SNP assays. Statistical analyses were conducted using the software SPSS 15.0 and the R statistical suite. Haplotype block structure and haplotype frequencies were determined using the Haploview. A P-value of 0.05 and confidence interval of 95% were used for all of statistical tests. RESULTS: The patients with non-syndromic cleft lip and/or palate were characterized by similar distribution of MSX1 genotypes and allele in comparison to subjects without oral clefts (P > 0.05). Two haplotype blocks were constructed with polymorphisms of MSX1 gene and haplotypes formed showed a similar frequency in patients with and without oral clefts. CONCLUSIONS: The present study provides no evidence that MSX1 polymorphisms (rs3775261, rs1042484, rs12532, rs6446693, rs4464513 and rs1907998) play a major role in NSCL/P. (AU)

• Processo FAPESP: 08/05064-9 - Avaliação de polimorfismos genéticos associados ao metabolismo do ácido fólico e ao desenvolvimento facial em crianças portadoras de fendas orais no estado do RN
• Beneficiário: Mario Hiroyuki Hirata
• Modalidade de apoio: Auxílio à Pesquisa - Regular