MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/89690 |
Resumo: | 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. |
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Souza, Liliane Todeschini deKowalski, Thayne WoycinckCollares, Marcus Vinicius MartinsFelix, Temis Maria2014-03-26T01:51:00Z20130100-879Xhttp://hdl.handle.net/10183/89690000910722Nonsyndromic 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.application/pdfengBrazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas. Ribeirão Preto. Vol. 46, no. 7 (July 2013), p. 555-558.Fator de transcrição MSX1Fenda labialFissura palatinaMSX1Cleft lip and palateOral cleftsMSX1 gene and nonsyndromic oral clefts in a Southern Brazilian populationinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000910722.pdf000910722.pdfTexto completo (inglês)application/pdf69309http://www.lume.ufrgs.br/bitstream/10183/89690/1/000910722.pdf36cdd2afd9db5b8c9af7e8b578e231adMD51TEXT000910722.pdf.txt000910722.pdf.txtExtracted Texttext/plain18068http://www.lume.ufrgs.br/bitstream/10183/89690/2/000910722.pdf.txt839257bc3d7db598590c5bff8ebe3721MD52THUMBNAIL000910722.pdf.jpg000910722.pdf.jpgGenerated Thumbnailimage/jpeg1804http://www.lume.ufrgs.br/bitstream/10183/89690/3/000910722.pdf.jpg35df040fe172918972dfbaf7df226802MD5310183/896902021-03-09 04:43:42.57021oai:www.lume.ufrgs.br:10183/89690Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-03-09T07:43:42Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population |
title |
MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population |
spellingShingle |
MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population Souza, Liliane Todeschini de Fator de transcrição MSX1 Fenda labial Fissura palatina MSX1 Cleft lip and palate Oral clefts |
title_short |
MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population |
title_full |
MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population |
title_fullStr |
MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population |
title_full_unstemmed |
MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population |
title_sort |
MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population |
author |
Souza, Liliane Todeschini de |
author_facet |
Souza, Liliane Todeschini de Kowalski, Thayne Woycinck Collares, Marcus Vinicius Martins Felix, Temis Maria |
author_role |
author |
author2 |
Kowalski, Thayne Woycinck Collares, Marcus Vinicius Martins Felix, Temis Maria |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Souza, Liliane Todeschini de Kowalski, Thayne Woycinck Collares, Marcus Vinicius Martins Felix, Temis Maria |
dc.subject.por.fl_str_mv |
Fator de transcrição MSX1 Fenda labial Fissura palatina |
topic |
Fator de transcrição MSX1 Fenda labial Fissura palatina MSX1 Cleft lip and palate Oral clefts |
dc.subject.eng.fl_str_mv |
MSX1 Cleft lip and palate Oral clefts |
description |
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. |
publishDate |
2013 |
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2013 |
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2014-03-26T01:51:00Z |
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Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas. Ribeirão Preto. Vol. 46, no. 7 (July 2013), p. 555-558. |
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