Common and rare TRAF3 variants influence B cell survival and immunoglobulin levels
Principal Investigator: Dr William Rae
Approved Research ID: 53026
Approval date: April 6th 2020
BACKGROUND: Autoimmune diseases are conditions in which the immune system attacks a patient's own body. Autoimmune diseases effect approximately 1 in 12 people, and this number is increasing, with no cure in the majority of cases. The reason autoimmune diseases develop is not fully understood with genetic and environmental factors playing roles. Many large studies have identified genetic changes in the gene TRAF3 as increasing the risk of developing autoimmune diseases. We have also recently identified very rare changes in the gene TRAF3 as causing autoimmunity in some individuals. In the general population there are many common genetic changes seen in the gene TRAF3 and we will investigate if the presence of any common changes alter the risk of developing an autoimmune disease. AIM: To assess the impact of common changes in TRAF3 on autoimmunity risk. SCIENTIFIC RATIONALE: The gene TRAF3 controls several functions of the immune system. Some people within the general population have changes in this gene which may effect how well it works, and in doing so alter the risk of developing autoimmune disease. We plan to study how changes in the TRAF3 may increase the risk of developing autoimmune disease. This is important information as specific treatments which target the functions of this gene have been developed and may provide new treatments for patients with autoimmune diseases and genetic changes in the gene TRAF3. PROJECT DURATION: The data analysis and testing of these TRAF3 changes are expected to take 24 months. PUBLIC HEALTH IMPACT: Autoimmune diseases are life-long incurable conditions, and are increasing in the population. Autoimmune disease is a significant economic burden on the health system with treatments needing continued monitoring due to side effects or lack of effect. Understanding how TRAF3 genetic changes may increase the risk and drive autoimmune disease also has the potential to lead to new treatments of autoimmune disease tailored to the genetic make-up of an individual.