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SP0150 Genetics of Vasculitis: Lessons Learned from Genome-Wide Association Studies
  1. J. Martin
  1. Immunology, CSIC, Granada, Spain

Abstract

In the past years there has been a dramatic increase in genomic discoveries involving complex, non-Mendelian diseases, as a result of genome-wide association (GWA) studies. Typically, GWAs analyze millions of single-nucleotide polymorphism (SNP) covering most of the genome and have significantly advanced our understanding of the genetic aspects of different vasculitis. Thus, recent GWAS have identified genetic association of ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 with Behcet's disease; BLK and CD40 with Kawasaki disease; SERPINA1 and SEMA6A with antineutrophil cytoplasmic antibody associated vasculitides or IL12B and FCGR2A/FCGR2A in Takayasu arteritis. In addition, these studies has allowed a more precise role of HLA region in vasculitis, through the identification of amino acid position of HLA-B and HLA-DR molecules implicated in the risk of Behcet's disease an giant cell arteritis. Further genetic (NGS) and functional studies are needed in order to better understand the pathophysiological consequences of the genetic variants associated with vasculitidies.

Disclosure of Interest None declared

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