UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

• Published in: Pediatric research Vol. 72; no. 2; pp. 169 - 173
• Main Authors: de Azevedo, Laura Alencastro, da Silveira, Themis Reverbel, Carvalho, Clarissa Gutierrez, de Castro, Simone Martins, Giugliani, Roberto, Matte, Ursula
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.08.2012; Lippincott Williams & Wilkins
• Subjects: 631/208/457/649; 692/1807; 692/700/1720; Bayes Theorem; Bilirubin - blood; Biological and medical sciences; Case-Control Studies; clinical-investigation; Electrophoresis, Capillary; Female; Gene Frequency; General aspects; Genetic Predisposition to Disease - genetics; Gestational Age; Glucuronosyltransferase - genetics; Humans; Hydrolysis; Hyperbilirubinemia, Neonatal - genetics; Infant, Newborn; Logistic Models; Male; Medical sciences; Medicine; Medicine & Public Health; Odds Ratio; Organic Anion Transporters - genetics; Organic Anion Transporters, Sodium-Independent - genetics; Pediatric Surgery; Pediatrics; Polymorphism, Genetic - genetics; Sex Factors; Solute Carrier Organic Anion Transporter Family Member 1b1; Solute Carrier Organic Anion Transporter Family Member 1B3; Human; Pediatrics; Neonatal; Association; Hyperbilirubinemia; Newborn; Genetic variability; Genetics; Genotype; Genetic determinism; Comparative study; Polymorphism
• ISSN: 0031-3998; 1530-0447; 1530-0447
• DOI: 10.1038/pr.2012.60

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. Conclusion: Although genetic variation accounts for a good part of this condition, the association between different polymorphisms and environmental factors has yet to be explained.