title: UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?
abstract: BACKGROUND
  Jaundice is a physiological phenomenon; however, severe hyperbilirubinemia occurs in only 5 to 6% of the healthy newborn population. It has been suggested that genetic variation could enhance the risk of hyperbilirubinemia when coexpressed with other icterogenic conditions.
  
  
  METHODS
  The study included newborns with a gestational age of greater than 35 wk and weights greater than 2,000 g with indications for phototherapy. The polymorphisms from UGT1A1 (rs8175347), SLCO1B1 (rs4149056 and rs2306283), and SLCO1B3 (rs17680137 and rs2117032) were analyzed by capillary electrophoresis and hydrolysis probes.
  
  
  RESULTS
  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 who were homozygous for the G allele of rs2306283 and who were glucose 6-phosphate-dehydrogenase deficient were more frequent among the cases.
  
  
  CONCLUSIONS
  Although genetic variation accounts for a good part of this condition, the association between different polymorphisms and environmental factors has yet to be explained.
authors.affiliation: Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: Laura
authors.initials: L
authors.lastname: Alencastro de Azevedo
authors.forename: Themis
authors.initials: T
authors.lastname: Reverbel da Silveira
authors.forename: Clarissa Gutierrez
authors.initials: CG
authors.lastname: Carvalho
authors.forename: Simone
authors.initials: S
authors.lastname: Martins de Castro
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Ursula
authors.initials: U
authors.lastname: Matte
mesh_terms: D001499:Bayes Theorem; D001663:Bilirubin / Q000097:blood; D016022:Case-Control Studies; D019075:Electrophoresis, Capillary; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005865:Gestational Age; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D006868:Hydrolysis; D051556:Hyperbilirubinemia, Neonatal / Q000235:genetics*; D007231:Infant, Newborn; D027381:Liver-Specific Organic Anion Transporter 1; D016015:Logistic Models; D008297:Male; D016017:Odds Ratio; D027361:Organic Anion Transporters / Q000235:genetics*; D029362:Organic Anion Transporters, Sodium-Independent / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012737:Sex Factors; D000074542:Solute Carrier Organic Anion Transporter Family Member 1B3; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D014453:Glucuronosyltransferase; D027381:Liver-Specific Organic Anion Transporter 1; D027361:Organic Anion Transporters; D029362:Organic Anion Transporters, Sodium-Independent; D000074542:Solute Carrier Organic Anion Transporter Family Member 1B3; D000099148:UGT1A1 Enzyme; C503999:SLCO1B1 protein, human; C421209:SLCO1B3 protein, human