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MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

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MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

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Título MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population
Autor Souza, Liliane Todeschini de
Kowalski, Thayne Woycinck
Collares, Marcus Vinicius Martins
Felix, Temis Maria
Abstract Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clı´nicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.
Contido em Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas. Vol. 46, n. 7 (2013), p. 555-558
Assunto Fator de transcrição MSX1
Fenda labial
Fissura palatina
[en] Cleft lip and palate
[en] MSX1
[en] Oral clefts
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/89690
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