Purpose: Variants in the gene encoding Programmed Cell Death-1 (PDCD1) have been
associated with susceptibility to Systemic Lupus Erythematosus and other autoimmune diseases.
Given that clinically distinct autoimmune phenotypes share common genetic susceptibility factors,
variants in PDCD-1 were tested for a possible association with Juvenile Idiopathic Arthritis (JIA).
Methods: Four Single Nucleotide Polymorphisms (SNPS) in the PDCD1 gene were genotyped and
analyzed: rs7421861, rs11568821, rs10204525, and rs7568402 in 834 cases and 855 controls of
Northern European ancestry. Each variant was examined for possible associations with JIA and
then analyzed for association with JIA categories.
Results: PDCD1 variants showed no association with JIA in the cohort overall (rs7421861 p=0.63,
rs11568821 p=0.13, rs10204525 p=0.31, and rs7568402 p=0.45). Stratification by JIA categories
indicated a significant association between systemic JIA and PDCD1 rs7568402 (OR=0.53,
p=0.0027), which remained significant after 10,000 permutations, but was not replicated in an independent
multi-ethnic systemic JIA cohort. A nominal association between enthesitis-related arthritis
and rs115668821 was also observed (OR=0.22, p=0.012).
Conclusion: Unlike other multiple autoimmune disease associated genetic variants, there was no
association between PDCD1 variants and JIA or JIA categories