Informatics ApproachesInnovationPartnership New understanding of genetic factors of Takayasu arteritis

Imperial researchers have derived a genetic risk score for Takayasu arteritis in a large scale genome-wide association study.

Takayasu arteritis (TAK) is a form of vasculitis, which is a family of rare disorders categorised by inflammation of blood vessels, which can restrict blood flow and damage vital organs and tissues. While we know that the disease is most prevalent in East Asia and has been well characterised in terms of its aetiology, little is known about whether there are genetic factors in the development of the disease despite strong indications.

In order to better understand these potential genetic factors, Professor Justin Mason and colleagues from our Immunology theme within the NIHR Imperial Biomedical Research Centre have collaborated in a study of 57 centres in 5 countries on a genome-wide association study (GWAS) in TAK. The study involved 1226 affected individuals and is the largest to date. The Imperial College Centre of Excellence in Vasculitis Research, funded by the NIHR Imperial Biomedical Research Centre, contributed a large cohort of UK patients to the study

The GWAS involved scanning the genomes from both affected individuals and controls from five different ancestries and looking for genetic markers that can be used to predict the presence of the disease. Important human leukocyte antigen (HLA) risk factors for TAK were revealed, along with four non-HLS susceptibility loci. These novel findings are presented in the paper published in the American Journal of Human Genetics, alongside confirmation of previously published susceptibility loci.

Importantly, the new study also reports more than 60 candidate loci with suggestive associations with TAK and has derived a novel genetic risk score. It is also an excellent example of collaborative working and

The next stage in this research will be important functional studies in the search for novel therapeutic targets.

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