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

Fabio D'Amico, Evangelia Skarmoutsou, Lauren J. Lo, Mariagrazia Granata, Chiara Trovato, Giulio A. Rossi, Chiara Bellocchi, Maurizio Marchini, Raffaella Scorza, Maria Clorinda Mazzarino, Alon Keinan

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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-κB, 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.

Original languageEnglish
Pages (from-to)58-62
Number of pages5
JournalImmunology Letters
Volume181
DOIs
Publication statusPublished - Jan 1 2017

Fingerprint

Systemic Lupus Erythematosus
Autoimmune Diseases
Vitiligo
Ankylosing Spondylitis
Psoriasis
Multiple Sclerosis
Genome-Wide Association Study
Amyotrophic Lateral Sclerosis
X Chromosome
Celiac Disease
Autoimmunity
Type 1 Diabetes Mellitus
Ulcerative Colitis
Crohn Disease
Type 2 Diabetes Mellitus
Genes
Exons
Rheumatoid Arthritis
Skin
Population

Keywords

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

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

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

In: Immunology Letters, Vol. 181, 01.01.2017, p. 58-62.

Research output: Contribution to journalArticle

D'Amico, F, Skarmoutsou, E, Lo, LJ, Granata, M, Trovato, C, Rossi, GA, Bellocchi, C, Marchini, M, Scorza, R, Mazzarino, MC & Keinan, A 2017, 'Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus', Immunology Letters, vol. 181, pp. 58-62. https://doi.org/10.1016/j.imlet.2016.11.011
D'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. / Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus. In: Immunology Letters. 2017 ; Vol. 181. pp. 58-62.
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