Identifying the specific genes responsible for antibody-associated vasculitis

A genome-wide association study in anti-MPO-ANCA vasculitis

Antibody-associated vasculitis (AAV) is a devastating autoimmune disease, where a person’s own immune cells attack the body and cause damage. The resulting blood vessel inflammation can lead to a blood clot in the lungs, kidney failure, or even death. Professor Kenneth Smith and Dr Paul Lyons from the University of Cambridge have been awarded a 3-year grant of nearly £300,000 to find out more about the causes of AAV. This condition is caused by inflammation of blood vessels, which is thought to be driven by the presence of unwanted immune fragments (antibodies) in the circulation, but the exact disease process is unknown. Pioneering BHF-funded research led to the first study looking at which genes may be responsible for AAV, and helped classify AAV into two different disease subtypes. Now, the researchers will use two large databases from Europe and North America, which have documented the genetic profile of over 3,000 patients with vasculitis. The researchers hope to uncover the specific genes that are responsible for the onset of antibody-associated vasculitis. Understanding the underlying genes that may cause the vasculitis will allow development of treatments that work by targeting these genes. This research may also have relevance for treatment of other blood vessel diseases.