1. PTPN22 is not associated with Behçet's disease. Study spanning the complete gene region in the Spanish population and meta-analysis of the functional variant R620W.
- Author
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Ortiz-Fernández L, Montes-Cano MA, García-Lozano JR, Conde-Jaldón M, Ortego-Centeno N, González-Leon R, Espinosa G, Graña-Gil G, Sánchez-Bursón J, Juliá MR, Solans R, Blanco R, Barnosi-Marín AC, Fanlo P, Rodríguez Carballeira M, Camps MT, Castañeda S, Martín J, and González-Escribano MF
- Subjects
- Behcet Syndrome diagnosis, Behcet Syndrome enzymology, Case-Control Studies, Chi-Square Distribution, Female, Genetic Association Studies, Genetic Markers, Genetic Predisposition to Disease, Humans, Male, Odds Ratio, Phenotype, Promoter Regions, Genetic, Risk Factors, Spain, Behcet Syndrome genetics, Polymorphism, Single Nucleotide, Protein Tyrosine Phosphatase, Non-Receptor Type 22 genetics
- Abstract
Objectives: The functional variant R620W of the protein tyrosine phosphatase non receptor-22 (PTPN22) gene plays an important role in susceptibility to several immuno-mediated pathologies. Behçet's disease (BD) is a complex disease related to the immune system with a demonstrated genetic base. The HLA class I genes are the most important genetic factors in BD although other genes are also involved in the susceptibility to this disease. The PTPN22 has been proposed as a candidate gene in BD but this association has not been clearly demonstrated yet. The aim of this study was to assess the association of PTPN22 with BD., Methods: A cohort composed of 404 Spanish BD patients and 1517 unrelated healthy individuals ethnically matched was genotyped in rs2476601 (R620W). Five tag SNPs: rs1217412, rs2476599, rs3789607, rs3765598 and rs1217419 (spanning a 57 Kb region between 3'UTR and 5'UTR) and rs2488457 (located at the promoter region) were also studied in order to perform a screening of the complete gene. Genotyping was performed using TaqMan® assays. The rs2476601 data were included in a meta-analysis together with those published till the date. The rest of SNPs were used in a case-control study., Results: No evidence of the association of rs2476601 with BD in the meta-analysis (P = 0.504 in the model of alleles) was found. In the case-control study, no statistically significant differences were observed when comparing the distribution of variants in patients and controls., Conclusions: Our results do not support a major role of the PTPN22 gene in BD.
- Published
- 2016