Exploring the genetic architecture of neonatal hyperbilirubinemia

Semin Fetal Neonatal Med. 2010 Jun;15(3):169-75. doi: 10.1016/j.siny.2009.11.003. Epub 2009 Dec 21.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Female
  • Genetic Variation
  • Glucosephosphate Dehydrogenase / genetics
  • Glucuronosyltransferase / genetics
  • Humans
  • Hyperbilirubinemia, Neonatal / enzymology
  • Hyperbilirubinemia, Neonatal / genetics*
  • Infant, Newborn
  • Liver-Specific Organic Anion Transporter 1
  • Male
  • Organic Anion Transporters / genetics
  • Polymorphism, Single Nucleotide

Substances

  • Liver-Specific Organic Anion Transporter 1
  • Organic Anion Transporters
  • SLCO1B1 protein, human
  • Glucosephosphate Dehydrogenase
  • UGT1A1 enzyme
  • Glucuronosyltransferase