Two Genes Connected to Autoimmune Diseases

The location on a chromosome of two specific genes has been shown to play a major role in the development of autoimmune diseases. This discovery could help develop future treatments and therapies for autoimmune diseases, such as type 1 diabetes.

Tumour Necrosis Factor-receptor associated factor 1 (TRAF1) and complement component 5 (C5), are the two genes in question, and their adjacent locations when attached to what’s known as chromosome 9. TRAF1 and C5 “are both immune related genes thought to be closely involved in the onset and/or perpetuation of the inflammatory process.”

Autoimmune diseases occur when a persons immune system attacks normally occurring cells in ones own body. In type 1 diabetes, the cells being destroyed by the immune system are insulin producing pancreatic beta cells. Other autoimmune diseases include systemic lupus erythematosus (SLE), multiple sclerosis, rheumatoid arthritis and narcolepsy. Past research has shown that the presence of TRAF1 and C5 pose an increased risk for rheumatoid arthritis.

The study focused on 735 type 1 diabetes patients, and 746 SLE patients, in an effort to find a “common genetic pathway” that was responsible for the onset of these conditions. Analysis of the patients did indeed reveal a connection, or “common odds ratio,” between type 1 diabetes patients and SLE patients.

With the knowledge of a potential progenitor for various autoimmune condition, with further research, the hope is that treatments will be developed that target the TRAF1 and C5 genes. Lead researcher Ms. Fina Kurreeman says, “the results of our study have shown that the TRAF/1C5 gene locus may have an important role in multiple autoimmune diseases. We hope that further study will give an insight into potential shared genetic pathways across autoimmune disorders and may even stimulate innovation into novel therapeutic targets in the future.”

Source: Defeat Diabetes Foundation: Kurreeman, Fina. Dormer, Camilla. EULAR news release. June 2008.