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Author Notes:

Address correspondence to this author at the Marcus Professor and Chief of Pediatric Rheumatology, Professor of Pediatrics and Human Genetics, Emory University School of Medicine, 1760 Haygood Drive, Atlanta, GA 30322, USA; Tel: 404 785 5437; Fax: (404) 727 3757; E-mail: sprahal@emory.edu

Acknowledgement: Declared none

Conflicts of interest: The authors declare no conflict of interest, financial or otherwise.

Part of this article has been reported in the author’s thesis ‘Investigation of Associations between Autoimmunity Associated Variants in PDCD-1 and Juvenile Idiopathic Arthritis Categories’.

This study was approved by the Institutional Review Boards of the participating institutions.

No Animals were used in this study.

All human research procedures followed were in accordance with the ethical standards of the committee responsible for human experimentation (institutional and national), and with the Helsinki Declaration of 1975, as revised in 2008.

Human subjects used in the study provided informed consent to participate in the study.


Research Funding:

S.P. was supported by grants from The National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01-AR060893), The Marcus Foundation Inc. and The Arthritis Foundation.

M.J.O. was supported by the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (Z01-AR041198).

The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of Arthritis and Musculoskeletal and Skin Diseases or the National Institutes of Health.


  • Juvenile arthritis
  • PDCD1
  • association
  • genetics
  • juvenile idiopathic arthritis
  • single nucleotide polymorphisms

Case-control Association Study of Autoimmunity Associated Variants in PDCD1 and Juvenile Idiopathic Arthritis.

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Journal Title:

Current Rheumatology Reviews


Volume 13, Number 3


, Pages 219-223

Type of Work:

Article | Final Publisher PDF


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.

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