Using a similar international collaborative effort with 29 academic centers in North America and Turkey, we put together the largest effort to study the genetics of Takayasu arteritis, a very rare large vessel vasculitis. Our lab recently published the first and only multi-ethnic genomic study in Takayasu arteritis, resulting in the identification of 5 genetic susceptibility loci for this disease. Indeed, prior to this work the only established and confirmed genetic association for Takayasu arteritis was in the HLA region and specifically with HLA-B*52. Our study confirmed this previously known association and established a new independent genetic association in HLA class II for Takayasu arteritis. Outside of the HLA, we established a genetic association in IL12B and FCGR2A/3A, both are reasonable targets for new therapeutic approaches. For example, IL12B encodes the P-40 subunit of IL-12 (Th1 cells), and IL-23 (Th17 cells), and biologics targeting this P-40 subunit are being currently introduced to treat other inflammatory diseases associated with genetic risk in this locus. More recently, we published the first unbiased GWAS study in Takayasu arteritis, and identified additional genetic susceptibility loci with a GWAS level of significance in IL6, LILRB3/RPS9, and an intergenic region on chromosome 21q22.
GWAS results in Takayasu arteritis (Source: Renauer et al. Arthritis and Rheumatology 2015)