Polymorphic variants of UGT1A1 in neonatal jaundice in southern Brazil.
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.
Carvalho
Clarissa Gutiérrez
CG
Castro
Simone Martins
SM
Santin
Ana Paula
AP
de Azevedo
Laura Alencastro
LA
Pereira
Maria Luiza Saraiva
ML
Giugliani
Roberto
R
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
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme