Association between GOLGB1 tag-polymorphisms and nonsyndromic cleft palate only in the Brazilian population.
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.
Palavras-chave
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