New genes linked to the risk of autoimmune blood vessel disease

Giant cell arteritis is an autoimmune disorder, since the body recognizes elements of the body itself as foreign, in this case, the tissue of the blood vessel wall, which it attacks. This vasculitis is considered a complex disease since it is caused by the alteration of numerous genes, as well as environmental triggers. The disorder can cause serious health problems such as blindness and stroke. The current options for diagnosis and treatment of this pathology are scarce, which makes it necessary to delve much deeper into the mechanisms involved in its development.

This has been the objective of a study led by researchers Gonzalo Borrego, Lourdes Ortiz, Javier Martín and Ana Márquez, from the López-Neyra Institute of Parasitology and Biomedicine (IPBLN), attached to the Higher Council for Scientific Research (CSIC) in Spain.

The new study constitutes an important advance in our knowledge of the genetic component of this disease. “There are many genetic variants that have small effects on the risk of developing giant cell arteritis. For this reason, international collaboration studies, which allow analyzing the genome of a large number of individuals, are essential to understand in depth the genetic bases of this vasculitis,” says Ana Márquez, IPBLN scientist.

New variations in the genome involved

Through a deep analysis of the genome of almost 3,500 patients with giant cell arteritis and more than 15,000 healthy individuals from ten countries, researchers have identified genetic variants located in five regions of the genome that confer risk of developing this disease, three of which They had not been identified until now. Among the genes prioritized in these regions, genes from the HLA system stand out, fundamental in our body’s defense against pathogens; as well as the MFGE8, VTN and PLG genes, which participate in the process of forming new blood vessels, and the CCDC25 gene, involved in the immune response by neutrophils, a type of blood cells.

Giant cell arteritis is caused by the alteration of numerous genes. In the image, artistic recreation of DNA (Illustration: Amazings / NCYT)

New diagnosis and treatment options

In addition to the significant advance in the knowledge of the mechanisms involved in the pathogenesis of giant cell arteritis, the results of this study represent an important step in the translation of genetic findings to clinical practice. According to Gonzalo Borrego, IPBLN researcher, “our results provide very important information to predict which people are at high risk of developing giant cell arteritis, which would allow the necessary preventive measures to be adopted.”

The results of this study also show that the use of therapeutic strategies based on drug repositioning, that is, the use of drugs already approved for other diseases, could be effective in treating giant cell arteritis.

The study is titled “Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.” And it has been published in the academic journal The Lancet Rheumatology. (Source: IPBLN / CSIC)