L. Ortiz-Fernández1, M. Montes-Cano2, J. García-Lozano3, M. Conde-Jaldón4, N. Ortego-Centeno5, R. González-Leon6, G. Espinosa7, G. Graña-Gil8, J. Sánchez-Bursón9, M. Juliá10, R. Solans11, R. Blanco12, A. Barnosi-Marín13, P. Fanlo14, M. Rodríguez Carballeira15, M. Camps16, S. Castañeda17, J. Martín18, M. González-Escribano19
2016 Vol.34, N°6 ,Suppl.102 - PI 0041, PF 0045
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.
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.
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.
Our results do not support a major role of the PTPN22 gene in BD.
PMID: 27050764 [PubMed]
Received: 01/10/2015 - Accepted : 11/01/2016 - In Press: 01/04/2016 - Published: 25/10/2016