Article: Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese

TitleTwo missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese
Authors
KeywordsAsian
association
SLE
UHRF1BP1
Issue Date2011
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/gene
Citation
Genes And Immunity, 2011, v. 12 n. 3, p. 231-234 How to Cite?
Abstract
UHRF1BP1 encodes a highly conserved protein with unknown function. Previously, a coding variant in this gene was found to be associated with systemic lupus erythematosus (SLE) in populations of European ancestry (rs11755393, R454Q, P=2.22 × 10 -8, odds ratio=1.17). In this study, by a combination of genome-wide study and replication involving a total of 1230 patients and 3144 controls, we confirmed the association of this coding variant to SLE in Hong Kong Chinese. We also identified another coding variant in this gene that independently contributes to SLE susceptibility (rs13205210, M1098T, P=4.44 × 10 -9, odds ratio1.49). Cross-population confirmation establishes the involvement of this locus in SLE and indicates that distinct alleles are contributing to disease susceptibility. © 2011 Macmillan Publishers Limited All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/133657
ISSN
2013 Impact Factor: 3.789
ISI Accession Number ID
Funding AgencyGrant Number
Shun Tak District Min Yuen Tong of Hong Kong
Research Grant Council of the Hong Kong GovernmentGRF HKU781709M
Edward the Sai Kim Hotung Paediatric Education and Research Fund
University Postgraduate Studentship
Funding Information:

This study was partially supported by the generous donation from Shun Tak District Min Yuen Tong of Hong Kong (to YLL). WY thanks support from Research Grant Council of the Hong Kong Government (GRF HKU781709M). YZ is supported by Edward the Sai Kim Hotung Paediatric Education and Research Fund and University Postgraduate Studentship. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

References

 

Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. The University of Hong Kong
  3. Tuen Mun Hospital
  4. Queen Elizabeth Hospital Hong Kong
  5. Pamela Youde Nethersole Eastern Hospital
DC FieldValueLanguage
dc.contributor.authorZhang, Yen_HK
dc.contributor.authorYang, Wen_HK
dc.contributor.authorMok, CCen_HK
dc.contributor.authorChan, TMen_HK
dc.contributor.authorWong, RWSen_HK
dc.contributor.authorMok, MYen_HK
dc.contributor.authorLee, KWen_HK
dc.contributor.authorWong, SNen_HK
dc.contributor.authorLeung, AMHen_HK
dc.contributor.authorLee, TLen_HK
dc.contributor.authorHo, MHKen_HK
dc.contributor.authorLee, PPWen_HK
dc.contributor.authorWong, WHSen_HK
dc.contributor.authorYang, Jen_HK
dc.contributor.authorZhang, Jen_HK
dc.contributor.authorWong, CMen_HK
dc.contributor.authorNg, IOLen_HK
dc.contributor.authorGarciaBarceló, MMen_HK
dc.contributor.authorCherny, SSen_HK
dc.contributor.authorTam, PKHen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorLau, CSen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2011-05-24T02:13:47Z-
dc.date.available2011-05-24T02:13:47Z-
dc.date.issued2011en_HK
dc.identifier.citationGenes And Immunity, 2011, v. 12 n. 3, p. 231-234en_HK
dc.identifier.issn1466-4879en_HK
dc.identifier.urihttp://hdl.handle.net/10722/133657-
dc.description.abstractUHRF1BP1 encodes a highly conserved protein with unknown function. Previously, a coding variant in this gene was found to be associated with systemic lupus erythematosus (SLE) in populations of European ancestry (rs11755393, R454Q, P=2.22 × 10 -8, odds ratio=1.17). In this study, by a combination of genome-wide study and replication involving a total of 1230 patients and 3144 controls, we confirmed the association of this coding variant to SLE in Hong Kong Chinese. We also identified another coding variant in this gene that independently contributes to SLE susceptibility (rs13205210, M1098T, P=4.44 × 10 -9, odds ratio1.49). Cross-population confirmation establishes the involvement of this locus in SLE and indicates that distinct alleles are contributing to disease susceptibility. © 2011 Macmillan Publishers Limited All rights reserved.en_HK
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/geneen_HK
dc.relation.ispartofGenes and Immunityen_HK
dc.subjectAsianen_HK
dc.subjectassociationen_HK
dc.subjectSLEen_HK
dc.subjectUHRF1BP1en_HK
dc.titleTwo missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1466-4879&volume=12&issue=3&spage=231&epage=234&date=2011&atitle=Two+missense+variants+in+UHRF1BP1+are+indpendently+associated+with+systemic+lupus+erythematosus+in+Hong+Kong+Chinese-
dc.identifier.emailYang, W: yangwl@hkucc.hku.hken_HK
dc.identifier.emailChan, TM: dtmchan@hku.hken_HK
dc.identifier.emailMok, MY: temy@hkucc.hku.hken_HK
dc.identifier.emailLee, PPW: ppwlee@hku.hken_HK
dc.identifier.emailWong, CM: hrmrwcm@hku.hken_HK
dc.identifier.emailNg, IOL: iolng@hku.hken_HK
dc.identifier.emailGarciaBarceló, MM: mmgarcia@hku.hken_HK
dc.identifier.emailCherny, SS: cherny@hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hku.hken_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailLau, CS: cslau@hku.hken_HK
dc.identifier.emailLau, YL: lauylung@hku.hken_HK
dc.identifier.authorityYang, W=rp00524en_HK
dc.identifier.authorityChan, TM=rp00394en_HK
dc.identifier.authorityMok, MY=rp00490en_HK
dc.identifier.authorityLee, PPW=rp00462en_HK
dc.identifier.authorityWong, CM=rp00338en_HK
dc.identifier.authorityNg, IOL=rp00335en_HK
dc.identifier.authorityGarciaBarceló, MM=rp00445en_HK
dc.identifier.authorityCherny, SS=rp00232en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityLau, CS=rp01348en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1038/gene.2010.66en_HK
dc.identifier.pmid21326321en_HK
dc.identifier.scopuseid_2-s2.0-79955464760en_HK
dc.identifier.hkuros185393en_US
dc.identifier.hkuros200693-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79955464760&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume12en_HK
dc.identifier.issue3en_HK
dc.identifier.spage231en_HK
dc.identifier.epage234en_HK
dc.identifier.isiWOS:000289832900010-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridZhang, Y=53664634900en_HK
dc.identifier.scopusauthoridYang, W=23101349500en_HK
dc.identifier.scopusauthoridMok, CC=34668219600en_HK
dc.identifier.scopusauthoridChan, TM=7402687700en_HK
dc.identifier.scopusauthoridWong, RWS=16945028500en_HK
dc.identifier.scopusauthoridMok, MY=7006024184en_HK
dc.identifier.scopusauthoridLee, KW=53663842100en_HK
dc.identifier.scopusauthoridWong, SN=7404590305en_HK
dc.identifier.scopusauthoridLeung, AMH=35788888900en_HK
dc.identifier.scopusauthoridLee, TL=8508917400en_HK
dc.identifier.scopusauthoridHo, MHK=8925896400en_HK
dc.identifier.scopusauthoridLee, PPW=14048822200en_HK
dc.identifier.scopusauthoridWong, WHS=13310222200en_HK
dc.identifier.scopusauthoridYang, J=53664678600en_HK
dc.identifier.scopusauthoridZhang, J=53664640800en_HK
dc.identifier.scopusauthoridWong, CM=7404954904en_HK
dc.identifier.scopusauthoridNg, IOL=7102753722en_HK
dc.identifier.scopusauthoridGarciaBarceló, MM=6701767303en_HK
dc.identifier.scopusauthoridCherny, SS=7004670001en_HK
dc.identifier.scopusauthoridTam, PKH=7202539421en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridLau, CS=14035682100en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.citeulike8849564-

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