A study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome

Yoon Hong Kim, Jong Eun Yeon, Gil Man Jung, Hyo Jung Kim, Jae Seon Kim, Kwan Soo Byun, Young-Tae Bak, Chang Hong Lee

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7 Citations (Scopus)

Abstract

BACKGROUND/AIMS: Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal in patients with Gilbert's syndrome. Patients with Gilbert's syndrome have an additional TA insertion in the A(TA)TAA of UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene. This results in reduced frequency and accuracy of transcription initiation and enzyme activity. The frequency and location of the mutation vary according to races. This study was done to determine the UGT-1A1 promoter gene mutation in Korean cases of Gilbert's syndrome. METHODS: Promoter regions of the gene for bilirubin UGT-1A1 in twelve patients with Gilbert's syndrome and twenty healthy subjects (controls) were sequenced. RESULTS: 1) Among twelve Gilbert's syndrome five patients were homozygous for A(TA)6/6TAA, two were homozygous for A(TA)7/7TAA, and the other five were heterozygous for A(TA)6/7TAA. The prevalence of A(TA)TAA mutation was 58.3 percent. 2) Among twenty healthy subjects seventeen were homozygous for A(TA)6/6TAA, one was homozygous for A(TA)7/7TAA, and two were heterozygous for A(TA)6/7TAA. The prevalence of A(TA)TAA mutation was 15 percent. 3) The prevalence of A(TA)TAA mutation in Gilbert's syndrome patients was significantly higher than in the controls (p=0.018). CONCLUSION: Although the prevalence of A(TA)TAA mutation in Korean patients with Gilbert's syndrome is significantly higher than in the controls, the mutations of the promoter region of UGT-1A1 gene appear not to be the main or sole cause in Gilbert's syndrome in Korea since the prevalence of A(TA)TAA mutation is not so high. Further studies to determine the relationship between other UGT-1A1 gene mutation and Gilbert's syndrome in Korea are needed.

Original languageEnglish
Pages (from-to)132-138
Number of pages7
JournalTaehan Kan Hakhoe chi = The Korean journal of hepatology
Volume8
Issue number2
Publication statusPublished - 2002 Jan 1

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Gilbert Disease
Glucuronosyltransferase
Mutation
Genes
Korea
Bilirubin
Genetic Promoter Regions
Healthy Volunteers
Mutation Rate

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A study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome. / Kim, Yoon Hong; Yeon, Jong Eun; Jung, Gil Man; Kim, Hyo Jung; Kim, Jae Seon; Byun, Kwan Soo; Bak, Young-Tae; Lee, Chang Hong.

In: Taehan Kan Hakhoe chi = The Korean journal of hepatology, Vol. 8, No. 2, 01.01.2002, p. 132-138.

Research output: Contribution to journalArticle

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abstract = "BACKGROUND/AIMS: Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal in patients with Gilbert's syndrome. Patients with Gilbert's syndrome have an additional TA insertion in the A(TA)TAA of UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene. This results in reduced frequency and accuracy of transcription initiation and enzyme activity. The frequency and location of the mutation vary according to races. This study was done to determine the UGT-1A1 promoter gene mutation in Korean cases of Gilbert's syndrome. METHODS: Promoter regions of the gene for bilirubin UGT-1A1 in twelve patients with Gilbert's syndrome and twenty healthy subjects (controls) were sequenced. RESULTS: 1) Among twelve Gilbert's syndrome five patients were homozygous for A(TA)6/6TAA, two were homozygous for A(TA)7/7TAA, and the other five were heterozygous for A(TA)6/7TAA. The prevalence of A(TA)TAA mutation was 58.3 percent. 2) Among twenty healthy subjects seventeen were homozygous for A(TA)6/6TAA, one was homozygous for A(TA)7/7TAA, and two were heterozygous for A(TA)6/7TAA. The prevalence of A(TA)TAA mutation was 15 percent. 3) The prevalence of A(TA)TAA mutation in Gilbert's syndrome patients was significantly higher than in the controls (p=0.018). CONCLUSION: Although the prevalence of A(TA)TAA mutation in Korean patients with Gilbert's syndrome is significantly higher than in the controls, the mutations of the promoter region of UGT-1A1 gene appear not to be the main or sole cause in Gilbert's syndrome in Korea since the prevalence of A(TA)TAA mutation is not so high. Further studies to determine the relationship between other UGT-1A1 gene mutation and Gilbert's syndrome in Korea are needed.",
author = "Kim, {Yoon Hong} and Yeon, {Jong Eun} and Jung, {Gil Man} and Kim, {Hyo Jung} and Kim, {Jae Seon} and Byun, {Kwan Soo} and Young-Tae Bak and Lee, {Chang Hong}",
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AU - Kim, Hyo Jung

AU - Kim, Jae Seon

AU - Byun, Kwan Soo

AU - Bak, Young-Tae

AU - Lee, Chang Hong

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