Journal
IMMUNOLOGY LETTERS
Volume 181, Issue -, Pages 58-62Publisher
ELSEVIER
DOI: 10.1016/j.imlet.2016.11.011
Keywords
Systemic lupus erythematosus; Autoimmune disease; CCDC22 gene; FOXP3 gene; Single nucleotide polymorphism
Categories
Funding
- University of Catania, Italy
- National Institutes of Health [R01HG006849]
- Edward Mallinckrodt, Jr. Foundation
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Autoimmune diseases often share common susceptibility genes. Most genetic variants associated with susceptibility to systemic lupus erythematosus are also associated with other autoimmune diseases. The X-linked variant rs2294020 is positioned in exon 7 of the CCDC22 gene. The encoded protein functions in the regulation of NF-kappa B, a master regulator in immune response. The aim of this study is to investigate whether the rs2294020 polymorphism may be a general susceptibility factor for autoimmunity. We evaluated case-control association between the occurrence of rs2294020 and different autoimmune diseases, including new data for systemic lupus erythematosus and previous genome-wide association studies (GWAS) (though most did not analyse the X chromosome) of psoriasis, celiac disease, Crohn's disease, ulcerative colitis, multiple sclerosis, vitiligo, type-1 diabetes, rheumatoid arthritis, and ankylosing spondylitis. Cases from patients affected by amyotrophic lateral sclerosis and type-2 diabetes were also included in the study. We detected nominal significant associations of rs2294020 with systemic lupus erythematosus (additive model test: p = 0.01), vitiligo (p = 0.016), psoriasis (p = 0.038), and in only one of two studies of multiple sclerosis (p = 0.03). Our results suggest that rs2294020 is associated with the risk of several autoimmune diseases in European populations, specifically with diseases that present themselves, among else, in the skin. (C) 2016 European Federation of Immunological Societies. Published by Elsevier B.V. All rights reserved.
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