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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

1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19

  1. Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
  2. Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
  3. Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
  4. Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
  5. Servicio de Medicina Interna, Hospital Clínico San Cecilio, Granada, Spain.
  6. Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  7. Servicio de Enfermedades Autoinmunes, Hospital Clinic, Barcelona, Spain.
  8. Servicio de Reumatología, Complejo Hospitalario Universitario, A Coruña, Spain.
  9. Servicio de Reumatología, Hospital Universitario de Valme, Sevilla, Spain.
  10. Servei d´Inmunología. Hospital Universitari Son Espases, Palma de Mallorca, Spain.
  11. Servicio de Medicina Interna, Hospital Vall d´Hebron, Barcelona, Spain.
  12. Servicio de Reumatología, Hospital Marqués de Valdecilla, Santander, Spain.
  13. Servicio de Medicina Interna, Hospital de Torrecárdenas, Almería, Spain.
  14. Servicio de Medicina Interna, Hospital Virgen del Camino, Pamplona, Spain.
  15. Servicio de Medicina Interna, Hospital Universitari Mútua, Terrassa, Barcelona, Spain.
  16. Servicio de Medicina Interna, Hospital Universitario Carlos Haya, Málaga, Spain.
  17. Servicio de Reumatología, Hospital de la Princesa, Madrid, Spain.
  18. Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Científicas, Granada, Spain.
  19. Servicio de Inmunología, IBiS, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain. mariaf.gonzalez.sspa@juntadeandalucia.es

CER9021 Submission on line
2016 Vol.34, N°6 ,Suppl.102 - PI 0041, PF 0045
Full Papers

Rheumatology Article

 

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.

PMID: 27050764 [PubMed]

Received: 01/10/2015 - Accepted : 11/01/2016 - In Press: 01/04/2016 - Published: 25/10/2016