Exploring the genetic architecture of neonatal hyperbilirubinemia.
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.
Watchko
Jon F
JF
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
Lin
Zhili
Z
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
D005954:Glucosephosphate Dehydrogenase; D014453:Glucuronosyltransferase; D027381:Liver-Specific Organic Anion Transporter 1; D027361:Organic Anion Transporters; D000099148:UGT1A1 Enzyme; C503999:SLCO1B1 protein, human