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

• Type: Article in International Scientific Journal
• Date: 2001

Authors

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

Journal

Title: Prenatal and Neonatal Medicine

Vol. 6

ISSN: 1359-8635

Publisher: Parthenon Publishing Group

Indexing

ISI Web of Knowledge - 3 Citations

Scopus - 5 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific