Justin Mason

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This recently published multinational collaborative study from 57 centres in 5 countries is the largest genome-wide-associated study to date in Takayasu arteritis, involving 1226 affected individuals. The Imperial College Centre of Excellence in Vasculitis Research, funded by the Imperial NIHR Biomedical Research Centre, contributed a large cohort of UK patients to the study. Important HLA risk factors for Takayasu arteritis were revealed, along with four non-HLS susceptibility loci. These novel findings are presented in the manuscript, alongside confirmation of previously published susceptibility loci. Importantly, the new study also reports more than 60 candidate loci with suggestive associations with Takayasu arteritis and has derived a novel genetic risk score. The next stage in this research will be important functional studies in the search for novel therapeutic targets.

Ortiz-Fernández et al

The American Journal of Human Genetics 108, 1–16, January 7, 2021

2020 Dec 3;S0002-9297(20)30411-0. doi: 10.1016/j.ajhg.2020.11.014. Online ahead of print.