Polimorfismos nos genes das proteínas transportadoras de ânions orgânicos na hiperbilirrubinemia neonatal : um estudo de casos e controles

AUTOR(ES)
FONTE

IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia

DATA DE PUBLICAÇÃO

2012

RESUMO

Jaundice usually is a physiological phenomenon among newborns; however, severe hyperbilirubinemia occurs in 5% to 6% of this population. It has been suggested that genetic variation in the genes of bilirubin transporters could enhance the risk of hyperbilirubinemia when co-expressed with other icterogenic conditions. The present study included newborns with a gestational age of greater than 35 weeks and weights greater than 2000 g with indications for phototherapy. The polymorphisms from SLCO1B1 (rs4149056 and rs2306283) and SLCO1B3 (rs17680137 and rs2117032) genes were analyzed by hydrolysis probes. A total of 167 hyperbilirubinemic infants and 247 control subjects were enrolled. The gender, ABO incompatibility, birth weight, and gestational age differed between the groups but the allelic and genotypic frequency of the polymorphisms from SLCO1B genes did not. In logistic regression, the ABO incompatibility, gestational age, and polymorphic T allele of rs2117032 remained in the model. The presence of this polymorphism seemed to provide protection from hyperbilirubinemia. The individuals that were homozygous for the G allele of rs2306283 and glucose 6-phosphate-dehydrogenase deficient were more frequent among the cases. In the present study there were observed only weak associations between the different polymorphisms and the clinical/environmental factors.

ASSUNTO(S)

hiperbilirrubinemia neonatal neonatal hyperbilirubinemia polymorphisms polimorfismo genético ugt1a1 slco1b1 slco1b3

ACESSO AO ARTIGO

Documentos Relacionados