Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia
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Dear Editor, Uridine diphosphate-glucuronosyltransferase 1A (UGT1A1), an enzyme encoded by the UGT1A1 gene on chromosome 2q37, is the major bilirubin-conjugating enzyme [1, 2]. Variants in the promoter and coding regions of UGT1A1 affect the enzyme activity of UGT1A1, leading to unconjugated hyperbilirubinemia disorders, including Gilbert syndrome (GS), Crigler-Najjar syndrome type I (CNI), and Crigler-Najjar syndrome type II (CNII). Variant frequencies show inter-ethnic differences [3, 4]. Reports on the spectrum of variants in Korean patients with hyperbilirubinemia are limited thus far; they are mostly based on a small number of patients evaluating a few mutational hotspots [5, 6]. We retrospectively investigated the spectrum of UGT1A1 variation in a larger study population to examine the allele distribution in Korean patients with unconjugated hyperbilirubinemia.
Abstract
Dear Editor, Uridine diphosphate-glucuronosyltransferase 1A (UGT1A1), an enzyme encoded by the UGT1A1 gene on chromosome 2q37, is the major bilirubin-conjugating enzyme [1, 2]. Variants in the promoter and coding regions of UGT1A1 affect the enzyme activity of UGT1A1, leading to unconjugated hyperbilirubinemia disorders, including Gilbert syndrome (GS), Crigler-Najjar syndrome type I (CNI), and Crigler-Najjar syndrome type II (CNII). Variant frequencies show inter-ethnic differences [3, 4]. Reports on the spectrum of variants in Korean patients with hyperbilirubinemia are limited thus far; they are mostly based on a small number of patients evaluating a few mutational hotspots [5, 6]. We retrospectively investigated the spectrum of UGT1A1 variation in a larger study population to examine the allele distribution in Korean patients with unconjugated hyperbilirubinemia.
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