title: PSORS2 markers are not associated with psoriatic arthritis in the Italian population.
abstract: Psoriatic arthritis (PsA) is a chronic inflammatory arthropathy characterized by the association of arthritis and psoriasis (Ps). The precise etiology of PsA is unknown, but epidemiological studies supported the existence of a genetic component for the disease. Here we report an association study on a large PsA Italian cohort for DNA variants recently reported as associated alleles at PSORS2 (17q25) in Ps cohorts from the US. We focused on discovering a possible involvement of PSORS2 associated SNPs in pathogenesis of PsA. We selected two SNPs (rs7420, rs734232) within the proximal peak and two SNPs (rs869190 and rs1561946) within distal peak of PSORS2. Our results ruled out PSORS2 alleles as susceptibility factors in arthritis psoriatic patients of Italian origin and suggested that previous linkage signal reported for chromosome 17q25 should be independent on the presence of PsA.
authors.affiliation: Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy. emiliano.giardina@uniroma2.it
authors.forename: Emiliano
authors.initials: E
authors.lastname: Giardina
authors.forename: Irene
authors.initials: I
authors.lastname: Predazzi
authors.forename: Cecilia
authors.initials: C
authors.lastname: Sinibaldi
authors.forename: Cristina
authors.initials: C
authors.lastname: Peconi
authors.forename: Paolo
authors.initials: P
authors.lastname: Amerio
authors.forename: Antonio
authors.initials: A
authors.lastname: Costanzo
authors.forename: Andrea
authors.initials: A
authors.lastname: Paradisi
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Capizzi
authors.forename: Mauro
authors.initials: M
authors.lastname: Paradisi
authors.forename: Sergio
authors.initials: S
authors.lastname: Chimenti
authors.forename: Egisto
authors.initials: E
authors.lastname: Taccari
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
mesh_terms: D000483:Alleles; D015535:Arthritis, Psoriatic / Q000235:genetics*; D053468:CARD Signaling Adaptor Proteins; D015331:Cohort Studies; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006162:Guanylate Cyclase; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008565:Membrane Proteins; D008957:Models, Genetic; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D011565:Psoriasis / Q000235:genetics*
chemical_list: D053468:CARD Signaling Adaptor Proteins; D050676:Core Binding Factor Alpha 2 Subunit; D008565:Membrane Proteins; D011506:Proteins; C426243:CARD14 protein, human; D006162:Guanylate Cyclase