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OP0056 The PTPN22/CSK Signalling Pathway is Involved in Susceptibility to Develop Giant Cell Arteritis
  1. A. Serrano1,
  2. D. Carmona2,
  3. A. Marquez2,
  4. R. Solans3,
  5. J. Hernández-Rodríguez4,
  6. M. C. Cid4,
  7. S. Castañeda5,
  8. I. C. Morado6,
  9. J. Narvaez7,
  10. B. Sopeña8,
  11. M. J. Garcia-Villanueva9,
  12. L. Tío-Barrera10,
  13. N. Ortego-Centeno11,
  14. A. Unzurrunzaga12,
  15. B. Marí-Alfonso13,
  16. J. Sanchez-Martin14,
  17. E. de Miguel15,
  18. C. Magro16,
  19. E. Raya16,
  20. A. Hidalgo-Conde17,
  21. L. Martinez18,
  22. P. Fanlo-Mateo19,
  23. M. A. Gonzalez-Gay20,
  24. J. Martin21
  1. 1Instituto de Parasitología y Biomedicina ‘Lopez-Neyra’ (CSIC)
  2. 2Instituto de Parasitologia y Biomedicina ‘Lopez-Neyra’ (CSIC), Granada
  3. 3Department of Internal Medicine, Hospital Vall d’Hebron
  4. 4Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic, University of Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona
  5. 5Department of Rheumatology, Hospital de la Princesa, IIS-Princesa
  6. 6Department of Rheumatology, Hospital Clínico San Carlos, Madrid
  7. 7Department of Rheumatology, Hospital Universitario de Bellvitge-IDIBELL, L’Hospitalet de Llobregat (Barcelona)
  8. 8Thrombosis and Vasculitis Unit-Internal Medicine Department, Complejo Hospitalario Universitario de Vigo, Vigo
  9. 9Department of Rheumatology, Hospital Ramón y Cajal, Madrid
  10. 10Grup de recerca cel·lular en inflamació i cartílag. IMIM-Hospital del Mar, Barcelona
  11. 11Unidad de Enfermedades Sistémicas Autoinmunes, Department of Internal Medicine, Hospital Clínico Universitario San Cecilio, Granada
  12. 12Department of Internal Medicine, Hospital de Galdakano, Vizcaya
  13. 13Department of Internal Medicine, Corporació Sanitaria Parc Taulí, Instituto Universitario Parc Taulí, UAB, Sabadell
  14. 14Department of Rheumatology, Hospital Universitario 12 de Octubre
  15. 15Department of Rheumatology, Hospital Universitario de La Paz, Madrid
  16. 16Department of Rheumatology, Hospital Clínico Universitario San Cecilio, Granada
  17. 17Department of Internal Medicine. Hospital Universitario Virgen de la Victoria, Malaga
  18. 18Department of Rheumatology, Hospital General Universitario Gregorio Marañón, Madrid
  19. 19Servicio Medicina Interna, Hospital Virgen del Camino, Pamplona
  20. 20Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander
  21. 21Instituto de Parasitologia y Biomedicina ‘Lopez-Neyra’, Granada, Spain


Background The PTPN22/CSK signalling represents one of the most relevant pathways in the innate immunity, and it has been implicated in the susceptibility to develop a wide number of autoimmune diseases.

Objectives To analyse the possible role of different single-nucleotide polymorphisms of the PTPN22 and CSK genes in the predisposition and clinical phenotypes of giant cell arteritis (GCA) in a large Caucasian population.

Methods Our study population consisted of 623 patients diagnosed with biopsy-proven GCA and 1,729 healthy controls of Spanish Caucasian origin. Two functional PTPN22 polymorphisms (rs24746601, R620W and rs33996649, R263Q) and two variants of the CSK gene (rs1378942 and rs34933034), previously associated with autoimmunity, were genotyped using specifically designed TaqMan® assays.

Results A significant association of the PTPN22 non-synonymous change rs2476601 with GCA susceptibility was yielded after the analysis of the allele frequencies (P=1.06E-04, OR= 1.62, CI 95% 1.29-2.04). No statistically significant differences between cases and controls of the rest of SNPs analysed were observed. Similarly, when patients were stratified according to specific clinical features of GCA, such as polymyalgia rheumatica (PMR), visual ischemic manifestations (VIM) or irreversible occlusive disease (IOD), only significant differences were found between the case subgroups and the control set for PTPN22 rs2476601 (P=2.26E-04, OR=1.77 CI 95% 1.30-2.40; P=1.03E-03, OR=1.82 CI 95% 1.27-2.62; P=5.47E-04, OR=2.14 CI 95% 1.38-3.33, respectively).

Conclusions Our results clearly suggest that the PTPN22 polymorphism rs2476601 is associated with susceptibility to GCA.

Disclosure of Interest None Declared

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