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The role of a functional variant of TYK2 in vasculitides and infections

1, 2, 3, 4, 5, 6, 7, 8, 9, 10

 

  1. Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain. lurortiz.fernandez@gmail.com
  2. Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain.
  3. Departamento de Genética e Instituto de Biotecnología, Universidad de Granada, Spain.
  4. Department of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla, Spain.
  5. Departments of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
  6. Immunogenetics Unit, Department of Experimental Biology, University of Jaén, Spain.
  7. Department of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla, Spain.
  8. Departments of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
  9. Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain.
  10. Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain. javiermartin@ipb.csic.es

on behalf of the Spanish GCA Study Group, IgAV Study Group, AAV Study Group and HIV Study Group

CER12499
2020 Vol.38, N°5
PI 0949, PF 0955
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PMID: 32167874 [PubMed]

Received: 12/06/2019
Accepted : 04/11/2019
In Press: 10/03/2020
Published: 02/10/2020

Abstract

OBJECTIVES:
The TYK2 gene encodes a tyrosin kinase which is involved in multiple immune functions. A functional variant of this gene has been identified to play a protective role in multiple autoimmune diseases. The goal of this study was to evaluate the involvement of this variant of TYK2 in vasculitides [giant cell arteritis (GCA), ANCA-associated vasculitis (AAV) and IgA vasculitis (IgAV)] and viral infections [hepatitis C virus (HCV) and human immunodeficiency virus type I (HIV-1)].
METHODS:
The study sample was composed of 13,745 European individuals. The genotyping was performed by Immunochip and TaqMan 5’ allele discrimination assays and the allele frequencies were compared using PLINK.
RESULTS:
Although the results obtained did not reach the genome-wide level of significance, p-values at nominal significance were observed, suggesting that the TYK2 variant provides protection against two vasculitides: GCA (p=5.94E-3; OR (95%CI) = 0.56 (0.37–0.85) and AAV (p=6.79E-3; OR (95%CI) = 0.65 (0.47–0.89). However, this variant was not found to be associated with IgAV. No evidence was gained that the TYK2 variant confers susceptibility to HCV and HIV-1 infection.
CONCLUSIONS:
This is the first study to propose the association between the TYK2 and both GCA and AAV. Our findings also suggest that TYK2 does not play a relevant role in IgAV or in susceptibility to HCV and HVI-1.

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