Determining the functional consequences of a single nucleotide polymorphism at a genetic locus linked to Crohn’s disease

Study code

Lead researcher
Professor Ken Smith

Study type
Participant re-contact

Institution or company
University of Cambridge

Researcher type

Speciality area

Recruitment Site


Crohn’s disease is a type of inflammatory bowel disease which can affect any region of the gastrointestinal tract. The underlying cause is unknown, but involves a combination of environmental, gut bacterial, and immunological factors. Previous studies have highlighted numerous genetic markers that predispose individuals to Crohn’s disease. Our laboratory has novel insight into one of these disease markers that may help explain underlying mechanisms of Crohn’s disease. The purpose of this study is to look at one particular genetic variation and test what effect this has on genes that control the type and function of immune cells, as this may have a role to play in the development of Crohn’s disease.

Participation: For this study we recruited 68 healthy volunteers from the Cambridge BioResource to attend a single appointment where they gave 50ml of blood. 

Organisation: This study is organised by Professor Ken Smith at the Department of Medicine in the Cambridge Institute for Medical Research situated on the Addenbrooke’s hospital site in Cambridge.