e27591f3-867c-4920-a81e-2aeebdd203e2
title
Association of a  programmed death 1  gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus.
241e9bbc-c433-43bc-adc6-a6aa73784f80
abstract
OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: The  PD-1  gene is significantly associated with RA susceptibility, suggesting the possibility that  PD-1  may contribute to the pathogenesis of RA.