A CD40 and an NCOA5 gene polymorphism confer susceptibility to psoriasis in a Southern European population: A case–control study

• Published in: Human immunology Vol. 72; no. 9; pp. 761 - 765
• Main Authors: Zervou, Maria I, Goulielmos, George N, Castro-Giner, Francesc, Boumpas, Dimitrios T, Tosca, Androniki D, Krueger-Krasagakis, Sabine
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.2011
• Subjects: Adult; Age of Onset; Allergy and Immunology; Autoimmunity - genetics; Case-Control Studies; CD40; CD40 Antigens - genetics; DNA Mutational Analysis; Europe; Female; Gene polymorphism; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Male; Middle Aged; NCOA5; Nuclear Receptor Coactivators - genetics; Polymorphism, Genetic; Population Groups; Psoriasis; Psoriasis - epidemiology; Psoriasis - genetics; CD40; NCOA5; Psoriasis; Gene polymorphism
• ISSN: 0198-8859; 1879-1166
• DOI: 10.1016/j.humimm.2011.05.014

Abstract Recent genome-wide association studies of many complex diseases have successfully identified novel susceptibility loci, with many of them shared by multiple disease-associated pathways. The genes CD40 and nuclear receptor coactivator 5 ( NCOA5 ), located in a 400-kb region surrounding CD40 , have been reported to be associated with increased risk for rheumatoid arthritis and other autoimmune diseases. We hypothesized that those genes may also have a role in psoriasis (PS), an autoimmune, chronic inflammatory skin disease. In a case–control study, 198 patients with PS and 400 controls were genotyped for 2 single nucleotide polymorphisms (SNPs) of the CD40 and NCOA5 genes located on chromosome 20q.12–q13.12. Here, we demonstrate for the first time the association of both SNPs with susceptibility to PS, thus suggesting a putative key role of both genes in multiple autoimmune diseases. Alleles G and C of the CD40 rs4810485 and NCOA5 rs2903908 SNPs, respectively, were more common in individuals with PS than in controls ( p = 0.03, odds ratio [OR] = 1.42, 95% confidence interval [95% CI] 1.05–1.95 and p = 0.000 003, OR = 1.93, 95% CI 1.47–2.55, respectively). The identification of shared genetic susceptibility loci may provide insight into our understanding of the pathophysiology of autoimmune diseases.