New Study Offers Insight Into Takayasu Arteritis Risk

A genome-wide association study¹ has revealed new genetic associations that can predict a person’s susceptibility to Takayasu arteritis.

“Many of us who treat patients with Takayasu arteritis are frustrated because we don’t really know how the disease works,” said Amr Sawalha, MD, professor at the University of Pittsburgh School of Medicine and chief of the Division of Pediatric Rheumatology at UPMC Children’s Hospital of Pittsburgh, in a press release.² “We don’t have good tools to predict a disease flare-up. Some patients have very active disease without clear symptoms or an increase in inflammatory markers.”

IF YOU LIKE THIS, READ MORE...

How Common Is Gastrointestinal Involvement in Adult IgA Vasculitis?

Tanaz Kermani, MD, on ANCA-Associated Vasculitis Treatment 

The genetic study, conducted by Dr Sawalha and an international group of colleagues, spanned 1226 patients with Takayasu arteritis from Turkey, Canada, China, Italy, the United Kingdom, and the United States. 

Compared with more than 5000 participants without Takayasu arteritis, those with the disorder showed variations in several regions of the genome, pointing to the potential role of certain immune cells in Takayasu arteritis. The researchers also identified novel molecules and pathways that could be therapeutic targets for treating patients with the disease.

By comparing the genetics of Takayasu arteritis with genetic predisposition to hundreds of other traits, investigators discovered a close genetic relation with inflammatory bowel disease (IBD). 

“We found that, genetically speaking, Takayasu arteritis was closest to Crohn disease,” Dr Sawalha said.² “This suggests that we can try developing treatments based on what we know works for [IBD], which is a much more common condition.” 

—Jolynn Tumolo

References:

1. Ortiz-Fernández L, Saruhan-Direskeneli G, Alibaz-Oner F, et al. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. Am J Hum Genet. Published online December 11, 2020. https://doi.org/10.1016/j.ajhg.2020.11.014

2. Pitt scientists identify genetic risks of rare inflammatory disease. News release. Health Sciences at the University of Pittsburgh. December 11, 2020. Accessed December 18, 2020. https://www.upmc.com/media/news/121120-sawalha