Neonatal hyperbilirubinemia (NH) is a common finding in newborn babies in Indonesia. Common and rare variants of UGT1A1\nhave been known to contribute to NH etiology. This study aims to identify UGT1A1 genetic variation and haplotype associated with\nNH in Indonesian population. DNA was isolated from 116 cases and 115 controls and a targeted-deep sequencing approach was\nperformed on the promoter, UTRs, and exonic regions of UGT1A1. Determining association of common variants and haplotype\nanalysis were performed using PLINK and Haploview. Ten and 4 rare variants were identified in cases and controls, respectively.\nThe UGT1A1 rare variants frequency in cases (5.17%) was higher than that in controls (1.7%). Four of those rare variants in cases\n(p.Ala61Thr, p.His300Arg, p.Lys407Asn, and p.Tyr514Asn) and three in controls (p.Tyr79X, p.Ala346Val, and p.Thr412Ser) are novel\nvariants. The frequencies of p.Gly71Arg, p.Pro229Gln, and TA7 common variants were not significantly different between cases and\ncontrols. A haplotype, consisting of 3 major alleles of 3
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