期刊
GENES AND IMMUNITY
卷 12, 期 3, 页码 231-234出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gene.2010.66
关键词
SLE; UHRF1BP1; association; Asian
资金
- Shun Tak District Min Yuen Tong of Hong Kong
- Research Grant Council of the Hong Kong Government [GRF HKU781709M]
- Edward the Sai Kim Hotung Paediatric Education and Research Fund
- University Postgraduate Studentship
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 x 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 x 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. Genes and Immunity (2011) 12, 231-234; doi:10.1038/gene.2010.66; published online 17 February 2011
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