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...

Full description

Saved in:
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
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by cdi_FETCH-LOGICAL-c320t-d4ce7f015326312e520d2266512cf98a4cdd2e3d9c08f5fd1ee9fa23b7a7ec383
cites cdi_FETCH-LOGICAL-c320t-d4ce7f015326312e520d2266512cf98a4cdd2e3d9c08f5fd1ee9fa23b7a7ec383
container_end_page 283
container_issue 3
container_start_page 281
container_title Annals of laboratory medicine
container_volume 40
creator Kim, Jin Ju
Oh, Joowon
Kim, Yoonjung
Lee, Kyung A
description 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
doi_str_mv 10.3343/alm.2020.40.3.281
format article
fullrecord <record><control><sourceid>proquest_nrf_k</sourceid><recordid>TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_9644185</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2329738401</sourcerecordid><originalsourceid>FETCH-LOGICAL-c320t-d4ce7f015326312e520d2266512cf98a4cdd2e3d9c08f5fd1ee9fa23b7a7ec383</originalsourceid><addsrcrecordid>eNpVkU9PGzEQxa2qqCDgA_RS-dgeEuwZ779LpQi1ARWpCJKz5XjHYNj1pvZuK759DYGo9WWs8XtvPPox9lGKOaLCM9P1cxAg5io35lDLd-wIANUMa6ne7--iPGSnKT2IfEohoREf2CHKuqirCo_YzZICjd7y2y3ZMU49HxxfL1dyIbkP_McQyQR-bUZPYUz8jx_v-TrYITxMd2akll88bSlufOfjtPGBem9O2IEzXaLT13rM1t-_rc4vZlc_l5fni6uZRRDjrFWWKidkgVCiBCpAtABlWUiwrqmNsm0LhG1jRe0K10qixhnATWUqsljjMfuyyw3R6Ufr9WD8S70b9GPUi5vVpW5KpfKuWft1p91Om55am5eJptPb6HsTn16c_78Ef59zfuuyQRRFlQM-vwbE4ddEadS9T5a6zgQapqQBoamwVkJmqdxJbRxSiuT2Y6TQz-h0Rqef0WmVGzqjy55P__5v73gDhX8BV0eVUA</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2329738401</pqid></control><display><type>article</type><title>Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia</title><source>Open Access: PubMed Central</source><creator>Kim, Jin Ju ; Oh, Joowon ; Kim, Yoonjung ; Lee, Kyung A</creator><creatorcontrib>Kim, Jin Ju ; Oh, Joowon ; Kim, Yoonjung ; Lee, Kyung A</creatorcontrib><description>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</description><identifier>ISSN: 2234-3806</identifier><identifier>EISSN: 2234-3814</identifier><identifier>DOI: 10.3343/alm.2020.40.3.281</identifier><identifier>PMID: 31858773</identifier><language>eng</language><publisher>Korea (South): The Korean Society for Laboratory Medicine</publisher><subject>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</subject><ispartof>Annals of Laboratory Medicine, 2020, 40(3), , pp.281-283</ispartof><rights>The Korean Society for Laboratory Medicine 2020 The Korean Society for Laboratory Medicine</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c320t-d4ce7f015326312e520d2266512cf98a4cdd2e3d9c08f5fd1ee9fa23b7a7ec383</citedby><cites>FETCH-LOGICAL-c320t-d4ce7f015326312e520d2266512cf98a4cdd2e3d9c08f5fd1ee9fa23b7a7ec383</cites><orcidid>0000-0001-5320-6705 ; 0000-0001-9166-1848 ; 0000-0002-4370-4265 ; 0000-0002-8449-3660</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933057/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933057/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,53769,53771</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31858773$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.kci.go.kr/kciportal/ci/sereArticleSearch/ciSereArtiView.kci?sereArticleSearchBean.artiId=ART002579857$$DAccess content in National Research Foundation of Korea (NRF)$$Hfree_for_read</backlink></links><search><creatorcontrib>Kim, Jin Ju</creatorcontrib><creatorcontrib>Oh, Joowon</creatorcontrib><creatorcontrib>Kim, Yoonjung</creatorcontrib><creatorcontrib>Lee, Kyung A</creatorcontrib><title>Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia</title><title>Annals of laboratory medicine</title><addtitle>Ann Lab Med</addtitle><description>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</description><subject>Alleles</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Databases, Genetic</subject><subject>Gene Frequency</subject><subject>Genotype</subject><subject>Glucuronosyltransferase - genetics</subject><subject>Humans</subject><subject>Hyperbilirubinemia - diagnosis</subject><subject>Hyperbilirubinemia - genetics</subject><subject>Letter to the Editor</subject><subject>Polymorphism, Genetic</subject><subject>Promoter Regions, Genetic</subject><subject>Republic of Korea</subject><subject>병리학</subject><issn>2234-3806</issn><issn>2234-3814</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNpVkU9PGzEQxa2qqCDgA_RS-dgeEuwZ779LpQi1ARWpCJKz5XjHYNj1pvZuK759DYGo9WWs8XtvPPox9lGKOaLCM9P1cxAg5io35lDLd-wIANUMa6ne7--iPGSnKT2IfEohoREf2CHKuqirCo_YzZICjd7y2y3ZMU49HxxfL1dyIbkP_McQyQR-bUZPYUz8jx_v-TrYITxMd2akll88bSlufOfjtPGBem9O2IEzXaLT13rM1t-_rc4vZlc_l5fni6uZRRDjrFWWKidkgVCiBCpAtABlWUiwrqmNsm0LhG1jRe0K10qixhnATWUqsljjMfuyyw3R6Ufr9WD8S70b9GPUi5vVpW5KpfKuWft1p91Om55am5eJptPb6HsTn16c_78Ef59zfuuyQRRFlQM-vwbE4ddEadS9T5a6zgQapqQBoamwVkJmqdxJbRxSiuT2Y6TQz-h0Rqef0WmVGzqjy55P__5v73gDhX8BV0eVUA</recordid><startdate>20200501</startdate><enddate>20200501</enddate><creator>Kim, Jin Ju</creator><creator>Oh, Joowon</creator><creator>Kim, Yoonjung</creator><creator>Lee, Kyung A</creator><general>The Korean Society for Laboratory Medicine</general><general>대한진단검사의학회</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><scope>ACYCR</scope><orcidid>https://orcid.org/0000-0001-5320-6705</orcidid><orcidid>https://orcid.org/0000-0001-9166-1848</orcidid><orcidid>https://orcid.org/0000-0002-4370-4265</orcidid><orcidid>https://orcid.org/0000-0002-8449-3660</orcidid></search><sort><creationdate>20200501</creationdate><title>Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia</title><author>Kim, Jin Ju ; Oh, Joowon ; Kim, Yoonjung ; Lee, Kyung A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c320t-d4ce7f015326312e520d2266512cf98a4cdd2e3d9c08f5fd1ee9fa23b7a7ec383</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Alleles</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Databases, Genetic</topic><topic>Gene Frequency</topic><topic>Genotype</topic><topic>Glucuronosyltransferase - genetics</topic><topic>Humans</topic><topic>Hyperbilirubinemia - diagnosis</topic><topic>Hyperbilirubinemia - genetics</topic><topic>Letter to the Editor</topic><topic>Polymorphism, Genetic</topic><topic>Promoter Regions, Genetic</topic><topic>Republic of Korea</topic><topic>병리학</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kim, Jin Ju</creatorcontrib><creatorcontrib>Oh, Joowon</creatorcontrib><creatorcontrib>Kim, Yoonjung</creatorcontrib><creatorcontrib>Lee, Kyung A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>Korean Citation Index</collection><jtitle>Annals of laboratory medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kim, Jin Ju</au><au>Oh, Joowon</au><au>Kim, Yoonjung</au><au>Lee, Kyung A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia</atitle><jtitle>Annals of laboratory medicine</jtitle><addtitle>Ann Lab Med</addtitle><date>2020-05-01</date><risdate>2020</risdate><volume>40</volume><issue>3</issue><spage>281</spage><epage>283</epage><pages>281-283</pages><issn>2234-3806</issn><eissn>2234-3814</eissn><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. KCI Citation Count: 0</abstract><cop>Korea (South)</cop><pub>The Korean Society for Laboratory Medicine</pub><pmid>31858773</pmid><doi>10.3343/alm.2020.40.3.281</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0001-5320-6705</orcidid><orcidid>https://orcid.org/0000-0001-9166-1848</orcidid><orcidid>https://orcid.org/0000-0002-4370-4265</orcidid><orcidid>https://orcid.org/0000-0002-8449-3660</orcidid><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 2234-3806
ispartof Annals of Laboratory Medicine, 2020, 40(3), , pp.281-283
issn 2234-3806
2234-3814
language eng
recordid cdi_nrf_kci_oai_kci_go_kr_ARTI_9644185
source Open Access: PubMed Central
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
title Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-26T07%3A18%3A27IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_nrf_k&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Genetic%20Spectrum%20of%20UGT1A1%20in%20Korean%20Patients%20with%20Unconjugated%20Hyperbilirubinemia&rft.jtitle=Annals%20of%20laboratory%20medicine&rft.au=Kim,%20Jin%20Ju&rft.date=2020-05-01&rft.volume=40&rft.issue=3&rft.spage=281&rft.epage=283&rft.pages=281-283&rft.issn=2234-3806&rft.eissn=2234-3814&rft_id=info:doi/10.3343/alm.2020.40.3.281&rft_dat=%3Cproquest_nrf_k%3E2329738401%3C/proquest_nrf_k%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c320t-d4ce7f015326312e520d2266512cf98a4cdd2e3d9c08f5fd1ee9fa23b7a7ec383%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2329738401&rft_id=info:pmid/31858773&rfr_iscdi=true