New findings out of the laboratories of UHN's Drs. Katherine Siminovitch, Jenny Heathcote and Gideon Hirschfield confirm that certain genes involved in primary biliary cirrhosis (PBC0--the most common autoimmune liver disease--have genetic overlap, or involvement, in other autoimmune diseases commonly found in patients with PBC and their families.
Building upon a previous study in 2009 and published in the New England Journal of Medicine, the team conducted subsequent genetic tests on over 1,300 individuals with PBC and 1,800 non-PBC patients to identify potential risk loci, or genetic areas of disease susceptibility. Specifically, findings show that genetic risk or 'hot spots' for PBC are genes located in an area that is also involved in the development of systemic lupus erythmatosus, systemic sclerosis and Sjogrens syndrome. Similarly, a second region of interest also shows increased risk and is associated with asthma, Crohn's disease and type 1 diabetes.
"Importantly, our studies have helped to identify three new genetic risk locations, including MMEL1, which has been associated with risk for rheumatoid arthritis and celiac disease," explains Dr. Siminovitch. "We have provided important new evidence that demonstrates there are several shared autoimmune susceptibility loci that contribute to the frequent appearance of additional autoimmune diseases."
Hirschfield GM, Liu X, Han Y, Gorlov IP, Lu Y, Xu C, Lu Y, Chen W, Juran BD, Coltescu C, Mason AL, Milkiewicz P, Myers RP, Odin JA, Luketic VA, Speiciene D, Vincent C, Levy C, Gregersen PK, Zhang J, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA. Nat Genet. 2010 Aug;42(8):655-7. Epub 2010 Jul 18. [Pubmed abstract]. Research supported by the Canadian Institutes of Health Research, the Ontario Research Fund, the Canadian Primary Biliary Cirrhosis Society, the Canadian Foundation for Innovation, the Ben and Hilda Katz Charitable Foundation, the US National Institutes of Health, the American Gastroenterological Association, and the A.J. and Sigismunda Palumbo Charitable Trust.