title: The protein tyrosine phosphatase, non-receptor type 22 R620W polymorphism does not confer susceptibility to psoriasis in the genetic homogeneous population of Crete.
abstract: Recent whole-genome and candidate-gene association studies in patients with psoriasis (PS) have identified a number of single-nucleotide polymorphisms (SNPs) that predispose to disease with moderate risk. Predisposition to PS is known to be affected by genetic variation in human leukocyte antigen-C as well as other non-human leukocyte antigen genes. We recently reported for the first time as a PS-associated SNP the signal transducer and activator of transcription-4 (STAT4) rs7574865 polymorphism, which is also associated with several autoimmune diseases. The aim of this study was to assess whether the functional R620W polymorphism of protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene encoding the lymphoid-specific tyrosine phosphatase, which is known to be associated with various autoimmune diseases, also confers increased risk for PS in the genetic homogeneous population of Crete. A case-control study was performed with 173 PS patients consecutively recruited and 348 healthy controls, all of them from the island of Crete. We found that the mutated T allele of the PTPN22 1858T SNP was more common in control individuals than in patients with PS (odds ratio = 0.39, 95% confidence interval = 0.11-1.04, p = 0.09). No considerable difference was observed in terms of sex, age of onset, or clinical presentation of psoriatic arthritis. Our results provide evidence that the PTPN22 1858T allele is not a susceptibility factor for PS in the Cretan population.
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: Francesc
authors.initials: F
authors.lastname: Castro-Giner
authors.forename: Prodromos
authors.initials: P
authors.lastname: Sidiropoulos
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: D000483:Alleles; D019943:Amino Acid Substitution; D015535:Arthritis, Psoriatic / Q000201:enzymology / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006115:Greece; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D011565:Psoriasis / Q000201:enzymology* / Q000235:genetics*; D050797:STAT4 Transcription Factor / Q000235:genetics
chemical_list: D017931:DNA Primers; D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22