title: Polymorphic variants of UGT1A1 in neonatal jaundice in southern Brazil.
abstract: Alterations in the hepatic conjugation of bilirubin due to uridyl-diphosphate-glucuronosyltransferase 1A1 (UGT1A1) polymorphisms have been proposed as risk factors to neonatal jaundice. Herein, we estimated the frequency of genotypes of the promoter region of UGT1A1 gene in newborns and evaluated its association with severe hyperbilirubinemia. Prospective study of cases and controls including all newborns admitted for phototherapy at HCPA, Brazil, during 9 months; 490 babies were enrolled and PCR was performed. Polymorphic genotypes were detected in 16% of the patients and 7 of the 10 possible genotypes were identified with higher prevalence of polymorphisms in Afro-descendants. In this sample, the variants of UGT1A1 were not associated to severe hyperbilirubinemia; other genic factors should be sought in this high miscegenation area of Brazil.
authors.forename: Clarissa Gutiérrez
authors.initials: CG
authors.lastname: Carvalho
authors.forename: Simone Martins
authors.initials: SM
authors.lastname: Castro
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Santin
authors.forename: Laura Alencastro
authors.initials: LA
authors.lastname: de Azevedo
authors.forename: Maria Luiza Saraiva
authors.initials: ML
authors.lastname: Pereira
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D001483:Base Sequence; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D005787:Gene Frequency; D005838:Genotype; D005865:Gestational Age; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015995:Prevalence; D011401:Promoter Regions, Genetic; D011446:Prospective Studies; D012307:Risk Factors; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme