Article: Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese
| Title | Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Authors | Zhang, 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 | ||||||||||
| Keywords | Asian association SLE UHRF1BP1 | ||||||||||
| Issue Date | 2011 | ||||||||||
| Publisher | Nature 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?] DOI: http://dx.doi.org/10.1038/gene.2010.66 | ||||||||||
| 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. | ||||||||||
| ISSN | 1466-4879 2011 Impact Factor: 3.872 2011 SCImago Journal Rankings: 0.631 | ||||||||||
| DOI | http://dx.doi.org/10.1038/gene.2010.66 | ||||||||||
| ISI Accession Number ID | WOS:000289832900010
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 | References in Scopus |
| dc.contributor.author | Zhang, Y | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| dc.contributor.author | Yang, W | ||||||||||
| dc.contributor.author | Mok, CC | ||||||||||
| dc.contributor.author | Chan, TM | ||||||||||
| dc.contributor.author | Wong, RWS | ||||||||||
| dc.contributor.author | Mok, MY | ||||||||||
| dc.contributor.author | Lee, KW | ||||||||||
| dc.contributor.author | Wong, SN | ||||||||||
| dc.contributor.author | Leung, AMH | ||||||||||
| dc.contributor.author | Lee, TL | ||||||||||
| dc.contributor.author | Ho, MHK | ||||||||||
| dc.contributor.author | Lee, PPW | ||||||||||
| dc.contributor.author | Wong, WHS | ||||||||||
| dc.contributor.author | Yang, J | ||||||||||
| dc.contributor.author | Zhang, J | ||||||||||
| dc.contributor.author | Wong, CM | ||||||||||
| dc.contributor.author | Ng, IOL | ||||||||||
| dc.contributor.author | GarciaBarceló, MM | ||||||||||
| dc.contributor.author | Cherny, SS | ||||||||||
| dc.contributor.author | Tam, PKH | ||||||||||
| dc.contributor.author | Sham, PC | ||||||||||
| dc.contributor.author | Lau, CS | ||||||||||
| dc.contributor.author | Lau, YL | ||||||||||
| dc.date.accessioned | 2011-05-24T02:13:47Z | ||||||||||
| dc.date.available | 2011-05-24T02:13:47Z | ||||||||||
| dc.date.issued | 2011 | ||||||||||
| dc.description.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. | ||||||||||
| dc.description.nature | link_to_subscribed_fulltext | ||||||||||
| dc.identifier.citation | Genes 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.citeulike | 8849564 | ||||||||||
| dc.identifier.doi | http://dx.doi.org/10.1038/gene.2010.66 | ||||||||||
| dc.identifier.epage | 234 | ||||||||||
| dc.identifier.hkuros | 185393 | ||||||||||
| dc.identifier.hkuros | 200693 | ||||||||||
| dc.identifier.isi | WOS:000289832900010
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.issn | 1466-4879 2011 Impact Factor: 3.872 2011 SCImago Journal Rankings: 0.631 | ||||||||||
| dc.identifier.issue | 3 | ||||||||||
| dc.identifier.openurl | ![]() | ||||||||||
| dc.identifier.pmid | 21326321 | ||||||||||
| dc.identifier.scopus | eid_2-s2.0-79955464760 | ||||||||||
| dc.identifier.spage | 231 | ||||||||||
| dc.identifier.uri | http://hdl.handle.net/10722/133657 | ||||||||||
| dc.identifier.volume | 12 | ||||||||||
| dc.language | eng | ||||||||||
| dc.publisher | Nature Publishing Group. The Journal's web site is located at http://www.nature.com/gene | ||||||||||
| dc.publisher.place | United Kingdom | ||||||||||
| dc.relation.ispartof | Genes and Immunity | ||||||||||
| dc.relation.references | References in Scopus | ||||||||||
| dc.subject | Asian | ||||||||||
| dc.subject | association | ||||||||||
| dc.subject | SLE | ||||||||||
| dc.subject | UHRF1BP1 | ||||||||||
| dc.title | Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese | ||||||||||
| dc.type | Article |
- The University of Hong Kong Li Ka Shing Faculty of Medicine
- Tuen Mun Hospital
- The University of Hong Kong
- Queen Elizabeth Hospital Hong Kong
- Pamela Youde Nethersole Eastern Hospital


