Complex Multifactorial Nature of Significant Hyperbilirubinemia in Neonates

To determine whether glucose-6-phosphate dehydrogenase (G6PD), uridine-diphosphoglucuronosyltransferase 1A1 (UGT1A1), and hepatic solute carrier organic anion transporter 1B1 (SLCO1B1) gene variants occur at greater frequency in neonates with significant hyperbilirubinemia. Infants with gestational...

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Published in:	Pediatrics (Evanston) Vol. 124; no. 5; pp. e868 - e877
Main Authors:	Watchko, Jon F, Lin, Zhili, Clark, Reese H, Kelleher, Amy S, Walker, M. Whit, Spitzer, Alan R, Pediatrix Hyperbilirubinemia Study Group
Format:	Journal Article
Language:	English
Published:	United States Am Acad Pediatrics 01-11-2009 American Academy of Pediatrics
Subjects:	Babies Female Gene Frequency Genes Glucose Glucosephosphate Dehydrogenase - genetics Glucuronosyltransferase - genetics Humans Hyperbilirubinemia, Neonatal - etiology Hyperbilirubinemia, Neonatal - genetics Infant, Newborn Male Medical disorders Mutation Organic Anion Transporters - genetics Pediatrics Phosphates Polymorphism, Genetic Solute Carrier Organic Anion Transporter Family Member 1b1
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Summary:	To determine whether glucose-6-phosphate dehydrogenase (G6PD), uridine-diphosphoglucuronosyltransferase 1A1 (UGT1A1), and hepatic solute carrier organic anion transporter 1B1 (SLCO1B1) gene variants occur at greater frequency in neonates with significant hyperbilirubinemia. Infants with gestational ages of >or=37 weeks and ages of <7 days were studied. Case subjects had >or=1 bilirubin level above the 95th percentile (high-risk zone), whereas control subjects had bilirubin levels of <40th percentile (low-risk zone) at study entry. A total of 153 case subjects (median bilirubin level: 15.7 mg/dL) and 299 control subjects (median bilirubin level: 4.6 mg/dL) were evaluated. There were no statistical differences in the frequencies of G6PD, UGT1A1, and SCLO1B1 gene variants between case and control subjects (G6PD: 5.2% vs 3.3%; UGT1A1: 14.4% vs 9.4%; SLCO1B1: 73.2% vs 73.6%). However, coexpression of the G6PD African A- mutation with UGT1A1 and/or SLCO1B1 variants was seen more frequently for case subjects. Case subjects more often demonstrated >or=2 factors contributing to hyperbilirubinemia, including ABO blood group heterospecificity in which the mother had blood group O (47.7% vs 11.4%), positive direct Coombs test results (33.3% vs 4%), sibling treated with phototherapy (16.3% vs 5.4%), maternal circulating blood group antibodies (10.5 vs 0.7%), maternal diabetes mellitus (13.1% vs 6.4%), and maternal East Asian ethnicity (6.5% vs 1.3%). Clinical contributors to hyperbilirubinemia were identified more frequently for case subjects but individually G6PD, UGT1A1, and SLCO1B1 variants were not. Coexpression of the G6PD African A- mutation with UGT1A1 and SLCO1B1 variants was seen more often for case subjects.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0031-4005 1098-4275
DOI:	10.1542/peds.2009-0460