title: A CD40 and an NCOA5 gene polymorphism confer susceptibility to psoriasis in a Southern European population: a case-control study.
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.
authors.affiliation: Laboratory of Dermatology, Department of Medicine, University of Crete, Heraklion, Greece.
authors.forename: Maria I
authors.initials: MI
authors.lastname: Zervou
authors.forename: George N
authors.initials: GN
authors.lastname: Goulielmos
authors.forename: Francesc
authors.initials: F
authors.lastname: Castro-Giner
authors.forename: Dimitrios T
authors.initials: DT
authors.lastname: Boumpas
authors.forename: Androniki D
authors.initials: AD
authors.lastname: Tosca
authors.forename: Sabine
authors.initials: S
authors.lastname: Krueger-Krasagakis
mesh_terms: D000328:Adult; D017668:Age of Onset; D015551:Autoimmunity / Q000235:genetics; D019013:CD40 Antigens / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005060:Europe; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D056918:Nuclear Receptor Coactivators / Q000235:genetics*; D011110:Polymorphism, Genetic; D044382:Population Groups; D011565:Psoriasis / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D019013:CD40 Antigens; C418222:NCOA5 protein, human; D056918:Nuclear Receptor Coactivators