TATA box polymorphism in the UDP-glucuronosyltransferase-1 gene promoter and neonatal hyperbilirubinemia

• Tipo: Artigo em Revista Científica Internacional
• Data: 2001

Autores

Alexandrino, AM (Autor) Outra; Carvalho, C (Autor) Outra; Costa, E (Autor) FFUP; Vieira, E (Autor) Outra; Oliveira, P (Autor) ICBAS; Duarte, C (Autor) Outra; Barbot, J (Autor) Outra; dos Santos, R (Autor) Outra; Areias, A (Autor) Outra

Revista

Título: Prenatal and Neonatal Medicine

Vol. 6

ISSN: 1359-8635

Editora: Parthenon Publishing Group

Indexação

ISI Web of Knowledge - 3 Citações

Scopus - 5 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-000-W1N

Abstract (EN): This study analyzed the role of the UDP-glucuronosyltransferase (UCT1A1) promoter polymorphism (mutant A[TA](7)TAA versus wild-type A[TA](6)TAA) in the pathophysiology of non-physiological hyperbilirubinemia, in Caucasian Portuguese neonates. Typing for the TATA box polymorphism was carried out in a study group consisting of 77 jaundiced neonates (19 with physiological and 58 with non-physiological hyperbilirubinemia) and in a background control population consisting of 100 healthy non-jaundiced Caucasian neonates. In the hyperbilirubinemic group without identified risk factors (n = 54), we found 50% normal homozygotes ([TA](6)/[TA](6)), 33.4% heterozygotes ([TA](6)/ [TA](7)), 14.8% mutant homozygotes ([TA](7)/[TA](7)) and a single heterozygote with a TA deletion ([TA](5)/[TA](6)). No statistically significant difference was found between this genotype distribution and that observed in the control group (chi (2) =1.585; p > 0.05). There was also no significant difference in genotype distribution between neonates with physiological and non-physiological hyperbilirubinemia (chi (2) = 3.156; p > 0.05), neither were peak jaundice levels significantly different among the various genotypic groups (chi (2) = 1.469; p > 0.05) except in the jaundiced population with associated risk factors. Our results indicate that the TATA box polymorphism did not seem to be a major contributing factor to the development of neonatal hyperbilirubinemia in our population but, when associated with other risk factors, seemed to influence the peak jaundice levels.

Idioma: Inglês

Tipo (Avaliação Docente): Científica