Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus

作者：D%apos; Amico Fabio; Skarmoutsou Evangelia; Lo Lauren J; Granata Mariagrazia; Trovato Chiara; Rossi Giulio A; Bellocchi Chiara; Marchini Maurizio; Scorza Raffaella; Mazzarino Maria Clorinda; Keinan Alon

来源：Immunology Letters, 2017, 181: 58-62.

DOI：10.1016/j.imlet.2016.11.011

• Systemic lupus erythematosus
• Autoimmune disease
• CCDC22 gene
• FOXP3 gene
• Single nucleotide polymorphism

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.

• 出版日期2017-1