Discovery of gene that increases susceptibility to Crohn's disease

Researchers at McGill University, the Research Institute of the McGill University Health Centre (RI MUHC) and the McGill University and Génome Québec Innovation Centre, along with colleagues at other Canadian and Belgian institutions, have discovered DNA variations in a gene that increases susceptibility to developing Crohn's disease.

Their study was published in the January issue of the journal Nature Genetics .

The study was led by McGill PhD candidate Alexandra-Chloé Villani under the supervision of Dr. Denis Franchimont and Dr. Thomas Hudson. Dr. Franchimont, now with the Erasme Hospital in Brussels, Belgium, was a Canada Research Chair formerly affiliated with the Gastroenterology Dept. of the MUHC. Dr. Hudson, former Director of the McGill University and Génome Québec Innovation Centre, is now the President and Scientific Director of the Ontario Institute for Cancer Research (OICR), located in Toronto.

The researchers pinpointed DNA sequence variants in a gene region called NLRP3 that are associated with increased susceptibility to Crohn's disease. Crohn's is a chronic relapsing inflammatory disease of the digestive system that can affect any part of the gastrointestinal tract. Patients can suffer from a number of different symptoms in various combinations, including abdominal pain, bloody diarrhea, fever, vomiting and weight loss. Rarer complications include skin manifestations, arthritis and eye inflammation.

"Although the exact cause of Crohn's disease is still unknown, both environmental and genetic factors are known to play a critical role in the pathogenesis of the disease," Dr. Franchimont said.