title: The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease.
abstract: The aim of this study was to assess the possible association between the protein tyrosine phosphatase non-receptor 22 (PTPN22) gene 1858C-->T (rs2476601, encoding R620W) polymorphism and inflammatory bowel disease (IBD). Our study population consisted of 1113 IBD [544 ulcerative colitis (UC) and 569 Crohn's disease (CD)] patients and 812 healthy subjects. All the individuals were of Spanish white origin. Genotyping of the PTPN22 gene 1858C-->T polymorphism was performed by real time polymerase chain reaction technology, using TaqMan 5'-allelic discrimination assay. The frequency of the PTPN22 1858T allele in healthy subjects was 6.2% compared with 6.7% in the UC patients and 5.1% in Crohn's patients. No statistically significant differences were observed when the PTPN22 1858C-->T allele and genotype distribution among CD patients, UC patients and healthy controls were compared. These results indicate that the PTPN22 1858C-->T polymorphism does not appear to play a major role in IBD predisposition in our population.
authors.affiliation: Servicio de Inmunología, Hospital Clínico San Carlos, Madrid, Spain. martin@ipb.csic.es
authors.forename: M C
authors.initials: MC
authors.lastname: Martín
authors.forename: J
authors.initials: J
authors.lastname: Oliver
authors.forename: E
authors.initials: E
authors.lastname: Urcelay
authors.forename: G
authors.initials: G
authors.lastname: Orozco
authors.forename: M
authors.initials: M
authors.lastname: Gómez-Garcia
authors.forename: M A
authors.initials: MA
authors.lastname: López-Nevot
authors.forename: A
authors.initials: A
authors.lastname: Piñero
authors.forename: J A
authors.initials: JA
authors.lastname: Brieva
authors.forename: E G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: A
authors.initials: A
authors.lastname: Nieto
authors.forename: J
authors.initials: J
authors.lastname: Martín
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics* / Q000276:immunology; D003424:Crohn Disease / Q000235:genetics* / Q000276:immunology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics* / Q000276:immunology; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics* / Q000276:immunology; D013030:Spain
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases