Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus
Version of Record online: 5 MAR 2004
Copyright © 2004 by the American College of Rheumatology
Arthritis & Rheumatism
Volume 50, Issue 3, pages 770–775, March 2004
How to Cite
Lin, S.-C., Yen, J.-H., Tsai, J.-J., Tsai, W.-C., Ou, T.-T., Liu, H.-W. and Chen, C.-J. (2004), Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. Arthritis & Rheumatism, 50: 770–775. doi: 10.1002/art.20040
- Issue online: 5 MAR 2004
- Version of Record online: 5 MAR 2004
- Manuscript Accepted: 7 NOV 2003
- Manuscript Received: 31 OCT 2002
- National Science Council of Taiwan. Grant Number: 90-2320-B-037-026
The expression of autoimmunity in mice deficient in programmed death 1 (PD-1) suggests that PD-1 is a candidate gene involved in the development of human autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). We therefore tested the potential association between PD-1 and the development of SLE and RA by conducting case–control genetic-association studies.
Ninety-eight SLE patients, 84 RA patients, and sex-matched control subjects for each disease group were recruited and genotyped for a single-nucleotide polymorphism, C+872T, in the human PD-1 gene. The significance of the association of the PD-1 gene with SLE or with RA was analyzed by statistical tests for the difference in genotype distribution between disease and control groups.
The human PD-1 gene was found to be significantly associated with disease development in RA patients, but not SLE patients. The risk of RA development appeared to be significantly increased by carriage of the T allele (odds ratio 3.32, P < 0.0001) or the C/T genotype (odds ratio 3.52, P < 0.00005).
The PD-1 gene is significantly associated with RA susceptibility, suggesting the possibility that PD-1 may contribute to the pathogenesis of RA.