Exploring the genetic architecture of neonatal hyperbilirubinemia
published online 21 December 2009.
Summary
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.
aDivision of Newborn Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Magee-Women's Research Institute, Pittsburgh, PA 15213, USA
bPerkin Elmer Genetics, 90 Emerson Lane, Bridgeville, PA 15017, USA
Corresponding author. Address: Division of Newborn Medicine, Department of Pediatrics, Magee-Women's Hospital, 300 Halket Street, Pittsburgh, PA 15213, USA. Tel.: +1 412 641 1834; fax: +1 412 641 5313.
ABSTRACT