title: Exploring the genetic architecture of neonatal hyperbilirubinemia.
abstract: The potential for genetic variation to modulate neonatal hyperbilirubinemia risk is increasingly being recognized. In particular, polymorphisms across three genes involved in bilirubin production and metabolism [glucose-6-phosphate dehydrogenase (G6PD), uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1), and solute carrier organic anion transporter polypeptide 1B1 (SLCO1B1)] may interact with each other and/or environmental contributors to produce significant hyperbilirubinemia. Variant gene co-expression including compound and synergistic heterozygosity enhances hyperbilirubinemia risk, contributing to the etiologic heterogeneity and complex nature of neonatal jaundice.
authors.affiliation: Division of Newborn Medicine, Department of Pediatrics, Magee-Women's Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA. jwatchko@mail.magee.edu
authors.forename: Jon F
authors.initials: JF
authors.lastname: Watchko
authors.forename: Zhili
authors.initials: Z
authors.lastname: Lin
mesh_terms: D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000201:enzymology / Q000235:genetics*; D007231:Infant, Newborn; D027381:Liver-Specific Organic Anion Transporter 1; D008297:Male; D027361:Organic Anion Transporters / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D000099148:UGT1A1 Enzyme
chemical_list: D005954:Glucosephosphate Dehydrogenase; D014453:Glucuronosyltransferase; D027381:Liver-Specific Organic Anion Transporter 1; D027361:Organic Anion Transporters; D000099148:UGT1A1 Enzyme; C503999:SLCO1B1 protein, human