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

Genes & Immunity volume 12, pages 231–234 (2011)Cite this article

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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 ratio=1.49). Cross-population confirmation establishes the involvement of this locus in SLE and indicates that distinct alleles are contributing to disease susceptibility.

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Acknowledgements

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.

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Authors and Affiliations

  1. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China

    Y Zhang, W Yang, T L Lee, M H K Ho, P P W Lee, W H S Wong, J Yang, J Zhang & Y L Lau

  2. Department of Medicine, Tuen Mun Hospital, New Territory, Hong Kong, China

    C C Mok

  3. Department of Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China

    T M Chan, R W S Wong, M Y Mok & C S Lau

  4. Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China

    K W Lee

  5. Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, New Territory, Hong Kong, China

    S N Wong

  6. Department of Medicine, Queen Elizabeth Hospital, Hong Kong, China

    A M H Leung

  7. Department of Patholgoy, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China

    C-M Wong & I O L Ng

  8. Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China

    M-M Garcia-Barceló & P K-H Tam

  9. Department of Psychiatry, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China

    S S Cherny & P C Sham

Authors
  1. Y Zhang
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  2. W Yang
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  3. C C Mok
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  7. K W Lee
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  10. T L Lee
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  11. M H K Ho
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  14. J Yang
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  15. J Zhang
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  16. C-M Wong
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  17. I O L Ng
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  18. M-M Garcia-Barceló
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  19. S S Cherny
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  20. P K-H Tam
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  21. P C Sham
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  22. C S Lau
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  23. Y L Lau
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Corresponding authors

Correspondence to W Yang or Y L Lau.

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The authors declare no conflict of interest.

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Zhang, Y., Yang, W., Mok, C. et al. Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese. Genes Immun 12, 231–234 (2011). https://doi.org/10.1038/gene.2010.66

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  • DOI: https://doi.org/10.1038/gene.2010.66

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