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Small-vessel vasculitis

 

Role of IRF5 in the pathogenesis of immunoglobulin-A vasculitis

1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27

 

  1. Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  2. Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  3. Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  4. Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  5. Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  6. Epidemiology and Computational Biology Department, School of Medicine, Universidad de Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain.
  7. Division of Paediatrics, Hospital Universitario San Cecilio, Granada, Spain.
  8. Systemic Autoimmune Diseases Unit, Hospital Universitario San Cecilio, Granada, Spain.
  9. Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  10. Division of Paediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  11. Division of Paediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  12. Division of Paediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  13. Nephrology Department, Hospital Universitario Marqués de Valdecilla, IDIVAL-REDINREN, Santander, Spain.
  14. Division of Rheumatology, Hospital Universitario Lucus Augusti, Lugo, Spain.
  15. Nephrology Department, Hospital Universitario San Cecilio, Granada, Spain.
  16. Dermatology Department, Hospital Universitario de La Princesa, Madrid, Spain.
  17. Dermatology Department, Hospital Universitario de La Princesa, Madrid, Spain.
  18. Rheumatology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  19. Rheumatology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  20. Rheumatology Department, Hospital Universitario de Basurto, Bilbao, Spain.
  21. Rheumatology Department, Hospital Universitario de Basurto, Bilbao, Spain.
  22. Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
  23. Servizo Galego de Saude and Instituto de Investigación Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain.
  24. Instituto de Parasitología y Biomedicina ‘López-Neyra’, CSIC, PTS Granada, Granada, Spain.
  25. Rheumatology Department, Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Spain.
  26. Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander; School of Medicine, Universidad de Cantabria, Santander, Spain; and Cardiovascular Pathophysiology and Genomics Research Unit, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. miguelaggay@hotmail.com
  27. Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Hospital Universitario Marqués de Valdecilla, Santander, Spain. rlopezmejias78@gmail.com

CER13272
2020 Vol.38, N°2 ,Suppl.124
PI 0182, PF 0187
Small-vessel vasculitis

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PMID: 32441646 [PubMed]

Received: 02/03/2020
Accepted : 07/04/2020
In Press: 22/05/2020
Published: 22/05/2020

Abstract

OBJECTIVES:
Interferon regulatory factor 5 (IRF5) is a major regulator of type I interferon induction and is also critical to produce pro-inflammatory cytokines. An influence of IRF5 genetic variants on the increased risk of immune-mediated diseases has been described. Accordingly, we aimed to evaluate the implication of IRF5 in the pathogenesis of Immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. Methods. Three tag genetic variants (rs2004640, rs2070197 and rs10954213), representative of 3 different haplotype blocks within IRF5, were genotyped in 372 Caucasian patients with IgAV and 876 sex and ethnically matched healthy controls by TaqMan assays.
RESULTS:
No significant differences in the genotype and allele frequencies between patients with IgAV and healthy controls were observed when each IRF5 polymorphism was evaluated independently. Likewise, no significant differences between patients with IgAV and healthy controls were found when we assessed the three IRF5 polymorphisms combined, conforming haplotypes. In addition, there were no significant differences in genotype, allele and haplotype frequencies of IRF5 when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations.
CONCLUSIONS:
Our results do not support an influence of IRF5 on the pathogenesis of IgAV.

Rheumatology Article