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

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TitleTwo missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese
AuthorsZhang, Y3
Yang, W3
Mok, CC2
Chan, TM3
Wong, RWS3
Mok, MY3
Lee, KW5
Wong, SN2
Leung, AMH4
Lee, TL3
Ho, MHK3
Lee, PPW3
Wong, WHS3
Yang, J3
Zhang, J3
Wong, CM1
Ng, IOL1
GarciaBarceló, MM1
Cherny, SS1
Tam, PKH1
Sham, PC1
Lau, CS3
Lau, YL3
KeywordsAsian
association
SLE
UHRF1BP1
Issue Date2011
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/gene
CitationGenes And Immunity, 2011, v. 12 n. 3, p. 231-234 [How to Cite?]
DOI: http://dx.doi.org/10.1038/gene.2010.66
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.
ISSN1466-4879
2011 Impact Factor: 3.872
2011 SCImago Journal Rankings: 0.631
DOIhttp://dx.doi.org/10.1038/gene.2010.66
ISI Accession Number IDWOS:000289832900010
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.

ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorZhang, Y
dc.contributor.authorYang, W
dc.contributor.authorMok, CC
dc.contributor.authorChan, TM
dc.contributor.authorWong, RWS
dc.contributor.authorMok, MY
dc.contributor.authorLee, KW
dc.contributor.authorWong, SN
dc.contributor.authorLeung, AMH
dc.contributor.authorLee, TL
dc.contributor.authorHo, MHK
dc.contributor.authorLee, PPW
dc.contributor.authorWong, WHS
dc.contributor.authorYang, J
dc.contributor.authorZhang, J
dc.contributor.authorWong, CM
dc.contributor.authorNg, IOL
dc.contributor.authorGarciaBarceló, MM
dc.contributor.authorCherny, SS
dc.contributor.authorTam, PKH
dc.contributor.authorSham, PC
dc.contributor.authorLau, CS
dc.contributor.authorLau, YL
dc.date.accessioned2011-05-24T02:13:47Z
dc.date.available2011-05-24T02:13:47Z
dc.date.issued2011
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.
dc.description.naturelink_to_subscribed_fulltext
dc.identifier.citationGenes And Immunity, 2011, v. 12 n. 3, p. 231-234 [How to Cite?]
DOI: http://dx.doi.org/10.1038/gene.2010.66
dc.identifier.citeulike8849564
dc.identifier.doihttp://dx.doi.org/10.1038/gene.2010.66
dc.identifier.epage234
dc.identifier.hkuros185393
dc.identifier.hkuros200693
dc.identifier.isiWOS:000289832900010
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.

dc.identifier.issn1466-4879
2011 Impact Factor: 3.872
2011 SCImago Journal Rankings: 0.631
dc.identifier.issue3
dc.identifier.openurl
dc.identifier.pmid21326321
dc.identifier.scopuseid_2-s2.0-79955464760
dc.identifier.spage231
dc.identifier.urihttp://hdl.handle.net/10722/133657
dc.identifier.volume12
dc.languageeng
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/gene
dc.publisher.placeUnited Kingdom
dc.relation.ispartofGenes and Immunity
dc.relation.referencesReferences in Scopus
dc.subjectAsian
dc.subjectassociation
dc.subjectSLE
dc.subjectUHRF1BP1
dc.titleTwo missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Tuen Mun Hospital
  3. The University of Hong Kong
  4. Queen Elizabeth Hospital Hong Kong
  5. Pamela Youde Nethersole Eastern Hospital