Understanding the genetic basis of the Extra Intestinal Manifestations of Inflammatory Bowel Disease

Summary

Up to half of all Inflammatory Bowel Disease (IBD) patients suffer, or will suffer at some point in their lives, from IBD disease-related symptoms outside the gastrointestinal track such as arthritis, eye inflammation, liver disease or severe rashes. These clinically heterogeneous symptoms are collectively known as extra-intestinal manifestations (EIMs), and they can have a severe impact on health and quality of life (QoL).Regardless of the organ affected, EIMs seem to be triggered by an abnormal and uncontrolled immune response, to an otherwise harmless stimulus. However, it is unknown whether those responses share the same biological mechanisms as IBD, or those (IBD and EIMS) are independent events but perpetuated by the same mechanisms that cause IBD. We do not fully understand the disease biology of EIMs. We are also unaware of the reasons why patients who have suffered from one EIM are more prone to develop additional EIMs, or why in many instances, developing EIMs is independent of how well the IBD is being managed. Therefore, this study is aimed to (i) determine the frequency of EIMs among the IBD Bioresource participants; (ii) identify which genetic variants are associated with higher susceptibly to develop Ims; (iii) understand how these dysregulate the normal biology; and (iv) identify which IBD patients are more prone to develop EIMs.