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

Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

25 Citations (Scopus)

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.

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

Research Keywords

Asian
association
SLE
UHRF1BP1

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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

@article{656cb67c28a94b70b5fbd0d8220b22fc,

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. {\textcopyright} 2011 Macmillan Publishers Limited All rights reserved.",

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

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.}",

year = "2011",

month = apr,

doi = "10.1038/gene.2010.66",

language = "English",

volume = "12",

pages = "231--234",

journal = "Genes and Immunity",

issn = "1466-4879",

publisher = "Springer Nature",

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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

TY - JOUR

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.

PY - 2011/4

Y1 - 2011/4

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. © 2011 Macmillan Publishers Limited All rights reserved.

AB - 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.

KW - Asian

KW - association

KW - SLE

KW - UHRF1BP1

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U2 - 10.1038/gene.2010.66

DO - 10.1038/gene.2010.66

M3 - RGC 21 - Publication in refereed journal

C2 - 21326321

SN - 1466-4879

VL - 12

SP - 231

EP - 234

JO - Genes and Immunity

JF - Genes and Immunity

IS - 3

ER -

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

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