title: Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis.
abstract: Variants in two genes of the IL-23 receptor (R) pathway have recently been shown to be associated with psoriasis vulgaris (PV). We were interested whether the risk conferred by these variants differs between psoriatic skin and joint disease. Four variants of the IL12B and IL23R genes were analyzed in 1,114 PV patients, 748 patients with psoriatic arthritis (PA) and 937 healthy controls before and after stratification for the major psoriasis risk allele at psoriasis susceptibility locus 1 (PSORS1). For both PA and PV, we detected the strongest association with two IL12B single-nucleotide polymorphisms and the corresponding haplotype as reflected by minimal P-values of 10(-7) and highest odds ratios of 1.50 (1.28-1.75) for rs6887695 in PA patients and 1.50 (1.27-1.76) for rs3212227 in the PV cohort, respectively. For IL23R, only rs11209026 showed an association. The results remained significant after correction for multiple testing. No difference was observed after stratification for the PSORS1 risk allele. While confirming recent reports on variants of the IL-23R pathway as susceptibility factors for PV, our study is the first to extend analysis of both genes to PA. However, our results indicate that these variants are not specific risk factors for arthritis, but relevant for susceptibility to psoriasis in general.
authors.affiliation: Institute of Human Genetics, University Hospital Erlangen, University Erlangen-Nuremberg, Erlangen, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Hüffmeier
authors.forename: Jesús
authors.initials: J
authors.lastname: Lascorz
authors.forename: Beate
authors.initials: B
authors.lastname: Böhm
authors.forename: Jörg
authors.initials: J
authors.lastname: Lohmann
authors.forename: Jörg
authors.initials: J
authors.lastname: Wendler
authors.forename: Rotraut
authors.initials: R
authors.lastname: Mössner
authors.forename: Kristian
authors.initials: K
authors.lastname: Reich
authors.forename: Heiko
authors.initials: H
authors.lastname: Traupe
authors.forename: Werner
authors.initials: W
authors.lastname: Kurrat
authors.forename: Harald
authors.initials: H
authors.lastname: Burkhardt
authors.forename: André
authors.initials: A
authors.lastname: Reis
mesh_terms: D000293:Adolescent; D000328:Adult; D015535:Arthritis, Psoriatic / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D053762:Interleukin-12 Subunit p40 / Q000235:genetics*; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D011565:Psoriasis / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D018123:Receptors, Interleukin / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: C500879:IL12B protein, human; C515500:IL23R protein, human; D053762:Interleukin-12 Subunit p40; C484393:PSORS1C1 protein, human; D011506:Proteins; D018123:Receptors, Interleukin