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

Y. Zhang; W. Yang; C. C. Mok; T. M. Chan; R. W.S. Wong; M. Y. Mok; K. W. Lee; S. N. Wong; A. M.H. Leung; T. L. Lee; M. H.K. Ho; P. P.W. Lee; W. H.S. Wong; J. Yang; J. Zhang; C. M. Wong; I. O.L. Ng; M. M. Garcia-Barceló; S. S. Cherny; P. K.H. Tam; P. C. Sham; C. S. Lau; Y. L. Lau

doi:10.1038/gene.2010.66

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

Y. Zhang, W. Yang^*, C. C. Mok, T. M. Chan, R. W.S. Wong, M. Y. Mok, K. W. Lee, S. N. Wong, A. M.H. Leung, T. L. Lee, M. H.K. Ho, P. P.W. Lee, W. H.S. Wong, J. Yang, J. Zhang, C. M. Wong, I. O.L. Ng, M. M. Garcia-Barceló, S. S. Cherny, P. K.H. TamP. C. Sham, C. S. Lau, Y. L. Lau

^*Corresponding author for this work

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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 ratio1.49). Cross-population confirmation establishes the involvement of this locus in SLE and indicates that distinct alleles are contributing to disease susceptibility.

Original language	English
Pages (from-to)	231-234
Number of pages	4
Journal	Genes and Immunity
Volume	12
Issue number	3
DOIs	https://doi.org/10.1038/gene.2010.66
State	Published - Apr 2011
Externally published	Yes

Keywords

Asian
SLE
UHRF1BP1
association

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10.1038/gene.2010.66

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Zhang, Y., Yang, W., Mok, C. C., Chan, T. M., Wong, R. W. S., Mok, M. Y., Lee, K. W., Wong, S. N., Leung, A. M. H., Lee, T. L., Ho, M. H. K., Lee, P. P. W., Wong, W. H. S., Yang, J., Zhang, J., Wong, C. M., Ng, I. O. L., Garcia-Barceló, M. M., Cherny, S. S., ... Lau, Y. L. (2011). Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese. Genes and Immunity, 12(3), 231-234. https://doi.org/10.1038/gene.2010.66

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title = "Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese",

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.",

keywords = "Asian, SLE, UHRF1BP1, association",

author = "Y. Zhang and W. Yang and Mok, {C. C.} and Chan, {T. M.} and Wong, {R. W.S.} and Mok, {M. Y.} and Lee, {K. W.} and Wong, {S. N.} and Leung, {A. M.H.} and Lee, {T. L.} and Ho, {M. H.K.} and Lee, {P. P.W.} and Wong, {W. H.S.} and J. Yang and J. Zhang and Wong, {C. M.} and Ng, {I. O.L.} and Garcia-Barcel{\'o}, {M. M.} and Cherny, {S. S.} and Tam, {P. K.H.} and Sham, {P. C.} and Lau, {C. S.} and Lau, {Y. L.}",

note = "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.",

year = "2011",

month = apr,

doi = "10.1038/gene.2010.66",

language = "אנגלית",

volume = "12",

pages = "231--234",

journal = "Genes and Immunity",

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Zhang, Y, Yang, W, Mok, CC, Chan, TM, Wong, RWS, Mok, MY, Lee, KW, Wong, SN, Leung, AMH, Lee, TL, Ho, MHK, Lee, PPW, Wong, WHS, Yang, J, Zhang, J, Wong, CM, Ng, IOL, Garcia-Barceló, MM, Cherny, SS, Tam, PKH, Sham, PC, Lau, CS & Lau, YL 2011, 'Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese', Genes and Immunity, vol. 12, no. 3, pp. 231-234. https://doi.org/10.1038/gene.2010.66

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T1 - Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese

AU - Zhang, Y.

AU - Yang, W.

AU - Mok, C. C.

AU - Chan, T. M.

AU - Wong, R. W.S.

AU - Mok, M. Y.

AU - Lee, K. W.

AU - Wong, S. N.

AU - Leung, A. M.H.

AU - Lee, T. L.

AU - Ho, M. H.K.

AU - Lee, P. P.W.

AU - Wong, W. H.S.

AU - Yang, J.

AU - Zhang, J.

AU - Wong, C. M.

AU - Ng, I. O.L.

AU - Garcia-Barceló, M. M.

AU - Cherny, S. S.

AU - Tam, P. K.H.

AU - Sham, P. C.

AU - Lau, C. S.

AU - Lau, Y. L.

N1 - 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.

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N2 - 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.

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ER -

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

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Keywords

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