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Association between GOLGB1 tag-polymorphisms and nonsyndromic cleft palate only in the Brazilian population.
Machado, Renato Assis; Martelli-Júnior, Hercílio; de Almeida Reis, Silvia Regina; Persuhn, Darlene Camati; Coletta, Ricardo D.
Afiliação
  • Machado RA; Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.
  • Martelli-Júnior H; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil and Center for Rehabilitation of Craniofacial Anomalies, Dental School, University of José Rosario Vellano, Alfenas, Minas Gerais, Brazil.
  • de Almeida Reis SR; Department of Basic Science, Bahiana School of Medicine and Public Health, Salvador, Bahia, Brazil.
  • Persuhn DC; Molecular Biology Department, Federal University of Paraíba, João Pessoa, Paraíba, Brazil.
  • Coletta RD; Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.
Ann Hum Genet ; 82(4): 227-231, 2018 07.
Article em En | MEDLINE | ID: mdl-29430628
Nonsyndromic oral clefts are common congenital birth defects that exhibit variable prevalence around the world, often influenced by population-dependent genetic predisposition. Few studies have been performed with nonsyndromic cleft palate only (NSCPO), limiting the knowledge of the genetic risk factors related to this type of oral cleft. Genetic variants in golgin subfamily B member 1 (GOLGB1), a gene that is essential for normal murine palatogenesis, were analyzed in this study to establish its potential association with NSCPO risk in the Brazilian population. Five tag-single nucleotide polymorphisms (SNPs) of GOLGB1 (rs1169, rs7153, rs9968051, rs9819530, and rs6794341), which capture the majority of alleles spanning within gene, were genotyped in a case-control study with 270 patients with NSCPO and 284 unrelated healthy controls. The samples were also genotyped for 40 biallelic polymorphic markers to characterize the genetic ancestry. After adjustment for co-variants, the GOLGB1 tag-SNPs and the haplotypes formed by those SNPs were not significantly associated with NSCPO in this Brazilian case-control cohort. Our results suggest that common polymorphisms of GOLGB1 are not associated NSCPO susceptibility in the Brazilian population.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fissura Palatina / Polimorfismo de Nucleotídeo Único / Proteínas da Matriz do Complexo de Golgi Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Ann Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Brasil País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fissura Palatina / Polimorfismo de Nucleotídeo Único / Proteínas da Matriz do Complexo de Golgi Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Ann Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Brasil País de publicação: Reino Unido