Does heterozygosity for UGT1A1 *28 convey increased risk for severe neonatal jaundice?

Abstract

Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. N Engl J Med. 1995;333:1171–5. CAS Article Google Scholar Riera P, Salazar J, Virgili AC, Tobena M, Sebio A, Gallano P, et al. Relevance of CYP3A4*20, UGT1A1*37 and UGT1A1*28 variants in irinotecan-induced severe toxicity. Br J Clin Pharmacol. 2018;84:1389–92. CAS Article Google Scholar Kaplan M, Beutler E, Vreman HJ, Hammerman C, Levy-Lahad E, Renbaum P, et al. Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes. Pediatrics. 1999;104:68–74. CAS Article Google Scholar Zangen S, Kidron D, Gelbart T, Roy-Chowdhury N, Wang X, Kaplan M. Fatal kernicterus in a girl deficient in glucose-6-phosphate dehydrogenase: a paradigm of synergistic heterozygosity. J Pediatr. 2009;154:616–9. Article Google Scholar Roy-Chowdhury N, Deocharan B, Bejjanki HR, Roy-Chowdhury J, Koliopoulos C, Petmezaki S, et al. Presence of the genetic marker for Gilbert syndrome is associated with increased level and duration of neonatal jaundice. Acta Paediatr. 2002;91:100–2. CAS Article Google Scholar Bahr TM, Christensen RD, Agarwal AM, George TI, Bhutani VK. The neonatal acute bilirubin encephalopathy registry (NABER): background, aims, and protocol. Neonatology. 2019;115:242–6. CAS Article Google Scholar Rets A, Clayton AL, Christensen RD, Agarwal AM. Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia. Int J Lab Hematol. 2019;41:95–101. Article Google Scholar 1000 Genomes Project Consortium, Auton A, Brooks LD, et al. A global reference for human genetic variation. Nature. 2015;526:68–74. Article Google Scholar Download references Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, USA Timothy M. Bahr & Robert D. Christensen Division of Hematopathology, Department of Pathology, University of Utah Health and ARUP Laboratories, Salt Lake City, UT, USA Archana M. Agarwal Division of Hematology/Oncology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, USA Robert D. Christensen You can also search for this author in PubMed Google Scholar You can also search for this author in PubMed Google Scholar You can also search for this author in PubMed Google Scholar Correspondence to Timothy M. Bahr. The authors declare that they have no conflicts of interest. Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Reprints and Permissions Bahr, T.M., Agarwal, A.M. & Christensen, R.D. Does heterozygosity for UGT1A1 *28 convey increased risk for severe neonatal jaundice?. J Perinatol (2020). https://doi.org/10.1038/s41372-020-00826-5 Download citation Received: 15 June 2020 Revised: 17 August 2020 Accepted: 11 September 2020 Published: 21 September 2020 DOI: https://doi.org/10.1038/s41372-020-00826-5