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Evidence of association of the NLRP1 gene with giant cell arteritis
  1. Aurora Serrano1,
  2. F David Carmona1,
  3. Santos Castañeda2,
  4. Roser Solans3,
  5. José Hernández-Rodríguez4,
  6. María C Cid4,
  7. Sergio Prieto-González4,
  8. José A Miranda-Filloy5,
  9. Luis Rodríguez-Rodríguez6,
  10. Inmaculada C Morado6,
  11. Carmen Gomez-Vaquero7,
  12. Ricardo Blanco8,
  13. Bernardo Sopeña9,
  14. Norberto Ortego-Centeno10,
  15. Ainhoa Unzurrunzaga11,
  16. Begoña Marí-Alfonso12,
  17. Julio Sánchez-Martín13,
  18. María Jesús García-Villanueva14,
  19. Ana Hidalgo-Conde15,
  20. Giulia Pazzola16,
  21. Luigi Boiardi16,
  22. Carlo Salvarani16,
  23. Miguel A González-Gay8,
  24. Javier Martín1
  1. 1 Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain
  2. 2 Department of Rheumatology, Hospital de la Princesa, IIS-Princesa, Madrid, Spain
  3. 3 Department of Internal Medicine, Hospital Vall d'Hebron, Barcelona, Spain
  4. 4 Vasculitis Research Unit, Department of Autoimmune and Systemic Diseases, Hospital Clínic, University of Barcelona, (IDIBAPS), Barcelona, Spain
  5. 5 Department of Rheumatology, Hospital Xeral-Calde, Lugo, Spain
  6. 6 Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain
  7. 7 Department of Rheumatology, Hospital Universitario de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain
  8. 8 Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Cantabria, Spain
  9. 9 Thrombosis and Vasculitis Unit-Internal Medicine Department, Complejo Hospitalario Universitario de Vigo, Vigo, Spain
  10. 10 Department of Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain
  11. 11 Department of Internal Medicine, Hospital de Galdakano, Vizcaya, Spain
  12. 12 Department of Internal Medicine, Corporació Sanitaria Parc Taulí, Instituto Universitario Parc Taulí, UAB, Sabadell, Barcelona, Spain
  13. 13 Department of Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain
  14. 14 Department of Rheumatology, Hospital Ramón y Cajal, Madrid, Spain
  15. 15 Department of Internal Medicine, Hospital Universitario Virgen de la Victoria, Málaga, Spain
  16. 16 Unita` Operativa di Reumatologia, Azienda Ospedaliera ASMN, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy
  1. Correspondence to Dr Javier Martin, Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Consejo Superior de Investigaciones Científicas, Parque Tecnológico Ciencias de la Salud, Avenida del Conocimiento s/n, Armilla (Granada) 18100, Spain; martin{at}ipb.csic.es

https://doi.org/10.1136/annrheumdis-2012-202609

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    Recent studies have focused attention on the involvement of NLRP1 to confer susceptibility for extended autoimmune/inflammatory disorders, being considered a common risk factor in autoimmunity.1–3 NLRP1 provides a scaffold for the assembly of the inflammasome that activates caspases 1 and 5, required for processing and activation of the proinflammatory cytokines interleukin 1β (IL-1β), IL-18 and IL-33 and promoting inflammation.4 In this study, we examined for the first time whether NLRP1 is associated with giant cell arteritis (GCA), a chronic systemic vasculitis affecting large and medium-sized arteries derived from the aorta, in particular the cranial branches of the carotid artery. GCA is the most common vasculitis in the elderly in Western countries with a female predominance.5 To investigate the possible genetic association of NLRP1 with this disease, we genotyped a single-nucleotide polymorphism (rs8182352), which has been reported to confer risk to the development of autoimmune processes in previous studies,1 ,2 in a total of 3583 individuals, comprising a discovery set from Spain (574 patients diagnosed with biopsy-proven GCA and 2366 healthy controls) and a replication set of subjects from Italy (111 biopsy-proven GCA patients and 532 controls) using a predesigned TaqMan allele discrimination assay. All individuals were of …

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    Footnotes

    • AS and FDC contributed equally. MAG-G and JM share senior authorship.

    • Contributors AS, FDC, MAG-G and JM were involved in the conception and design of the study. AS and FDC contributed in the analysis and interpretation of data and in drafting the article. SC, RS, JH-R, MCC, SP-G, JAM-F, LR-R, ICM, CG-V, RB, BS, NO-C, AU, BM-A, JS-M, MJG-V, AH-C, GP, LB, CS and MAG-G collected samples and participated in analysis and interpretation of data. SC, RS, JH-R, MCC, SP-G, JAM-F, LR-R, ICM, CG-V, RB, BS, NO-C, AU, BM-A, JS-M, MJG-V, AH-C, GP, LB, CS, MAG-G and JM revised critically the manuscript draft. All authors approved the final version of the manuscript.

    • Funding None.

    • Competing interests None.

    • Patient consent Obtained.

    • Ethics approval Approval from the local ethical committees of all centres involved in the study was obtained in accordance with the tenets of the Declaration of Helsinki.

    • Provenance and peer review Not commissioned; externally peer reviewed.