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 Detalle_Publicacion

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

Abstract: Objective: 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. Conclusion : 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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Clinical and Experimental Rheumatology, 2020, 38, 949-955

Editorial: Clinical and Experimental Rheumatology

 Año de publicación: 2020

Tipo de publicación: Artículo de Revista

ISSN: 0392-856X,1593-098X

Autoría

L. ORTIZ-FERNÁNDEZ

R. LÓPEZ-MEJIAS

F.D. CARMONA

A.L. CASTAÑO-NUÑEZ

P.A. LYONS

A. CARUZ

M.F. GÓNZALEZ-ESCRIBANO

K.G.C. SMITH