Research Article UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population Dewi A. Wisnumurti , 1 Yunia Sribudiani, 2 Robert M. Porsch, 3 Ani M. Maskoen, 2 Lola I. Abdulhamied, 4 Sri E. Rahayuningsih, 5 Eni K. Asni, 6 Frank Sleutels , 7 Christel E. M. Kockx , 7 Wilfred F. J. van Ijcken , 7 Abdurachman Sukadi, 8 and Tri H. Achmad 2 1 Neonatology Subdivision, Pediatric Department, Arifn Achmad General Hospital, Pekanbaru, Indonesia 2 Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia 3 Department of Psychiatry, Li Ka Shing Faculty of Medicine, Te University of Hong Kong, Pokfulam, Hong Kong 4 Department of Epidemiology and Biostatistics, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia 5 Cardiology Subdivision, Pediatric Department, Dr. Hasan Sadikin Hospital, Bandung, Indonesia 6 Department of Biochemistry, Faculty of Medicine, Universitas Riau, Riau, Indonesia 7 Erasmus Center for Biomics, Erasmus MC, Rotterdam, Netherlands 8 Neonatology Subdivision, Pediatric Department, Dr. Hasan Sadikin Hospital, Bandung, Indonesia Correspondence should be addressed to Dewi A. Wisnumurti; d.wisnumurti.21@gmail.com Received 10 September 2017; Accepted 4 December 2017; Published 23 January 2018 Academic Editor: Saima Riazuddin Copyright © 2018 Dewi A. Wisnumurti et al. Tis is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Neonatal hyperbilirubinemia (NH) is a common fnding in newborn babies in Indonesia. Common and rare variants of UGT1A1 have been known to contribute to NH etiology. Tis study aims to identify UGT1A1 genetic variation and haplotype associated with NH in Indonesian population. DNA was isolated from 116 cases and 115 controls and a targeted-deep sequencing approach was performed on the promoter, UTRs, and exonic regions of UGT1A1. Determining association of common variants and haplotype analysis were performed using PLINK and Haploview. Ten and 4 rare variants were identifed in cases and controls, respectively. Te UGT1A1 rare variants frequency in cases (5.17%) was higher than that in controls (1.7%). Four of those rare variants in cases (p.Ala61Tr, p.His300Arg, p.Lys407Asn, and p. Tyr514Asn) and three in controls (p.Tyr79X, p.Ala346Val, and p. Tr412Ser) are novel variants. Te frequencies of p.Gly71Arg, p.Pro229Gln, and TA 7 common variants were not signifcantly diferent between cases and controls. A haplotype, consisting of 3 major alleles of 3  UTRs common variants (rs8330C>G, rs10929303C>T, and rs1042640C>G), was associated with NH incidence ( = 0.025) in this population. Using targeted-deep sequencing and haplotype analysis, we identifed novel UGT1A1 rare variants and disease-associated haplotype in NH in Indonesian population. 1. Introduction Jaundice is a common physiological phenomenon in neo- nates as it occurs almost in 60% of healthy term newborns [1, 2]. Neonatal hyperbilirubinemia (NH) is a condition when jaundice with the serum total bilirubin (STB) levels is above the 95th percentile for age in hours [3]. In the most severe cases, NH leads to chronic bilirubin encephalopathy (ker- nicterus) which is characterized by severe athetoid cerebral palsy, sensory hearing loss, dental-enamel dysplasia, paralysis upward gaze, and mortality. Neonatal hyperbilirubinemia occurs due to the imbalance between production and elim- ination of bilirubin [2, 4]. One of the important processes in bilirubin elimination is glucuronic acid conjugation to bilirubin. Conjugated bilirubin is more polar and easier to eliminate compared to unconjugated bilirubin. Te conju- gation process occurs in the hepatocyte and is catalyzed by UDP-glucuronosyltransferase enzyme which is encoded Hindawi BioMed Research International Volume 2018, Article ID 9425843, 11 pages https://doi.org/10.1155/2018/9425843