Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia

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 hyperbi...

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Bibliographic Details
Published in:Annals of laboratory medicine 2020, 40(3), , pp.281-283
Main Authors: Kim, Jin Ju, Oh, Joowon, Kim, Yoonjung, Lee, Kyung A
Format: Article
Language:English
Subjects:
Alleles
Asian Continental Ancestry Group - genetics
Databases, Genetic
Gene Frequency
Genotype
Glucuronosyltransferase - genetics
Humans
Hyperbilirubinemia - diagnosis
Hyperbilirubinemia - genetics
Letter to the Editor
Polymorphism, Genetic
Promoter Regions, Genetic
Republic of Korea
병리학
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Summary: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. KCI Citation Count: 0
ISSN:2234-3806
2234-3814
DOI:10.3343/alm.2020.40.3.281