Approved Research

Genetics and epidemiology of giant cell arteritis, polymyalgia rheumatica and its complications.

Lay summary

In recent years, significant progress made in genome-wide association studies (GWAS) approach has led to the discovery and characterisation of genetic basis of many common diseases.  However, in rare diseases such as giant cell arteritis (GCA) this has not been the case largely due to limited patient cohort. Giant cell arteritis causes inflammation of blood vessels especially those in the temple region and occurs exclusively in adults over the age of 50 years. It is known that polymyalgia rheumatica (PMR) is a clinical feature of GCA, both conditions can occur concurrently or in isolation and are treated with high dose of Steroids, which has a dramatic effect in short term but poses adverse side effects in large proportion of patients in long term. By leveraging publicly available summary statistics of multi-omics dataset alongside the GCA cohort data we aim to identify specific genes and pathways involved in the risk of GCA, PMR and the disease complications using novel statistical methods. It is hoped that the outcome of this research will further our understanding of the genetic architecture of GCA and aid identification of relevant predictive and prognostic biomarkers for targeted therapeutic intervention, thereby reducing toxicities associated with Steroids therapy.