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- Title
Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese.
- Authors
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; Tam, P K-H
- 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.
- Subjects
HONG Kong (China); CHINA; SYSTEMIC lupus erythematosus; GENETIC code; DISEASE susceptibility; DNA replication; GENETICS
- Publication
Genes & Immunity, 2011, Vol 12, Issue 3, p231
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/gene.2010.66