The Genomic Basis of Inflammatory Bowel Disease

• Research type

  Research Study

• Full title

  The Genomic Basis of Inflammatory Bowel Disease

• IRAS ID

  227850

• Contact name

  Tony Bjourson

• Contact email

  aj.bjourson@ulster.ac.uk

• Sponsor organisation

  Genomics Medicine Ireland

• Duration of Study in the UK

  8 years, 0 months, 0 days

• Research summary

  According to the Irish Society for Colitis and Crohn’s Disease, there are around 20,000 individuals in Ireland diagnosed with IBD (http://www.iscc.ie/#!about/c126y). We aim to recruit at least 2000 IBD patients seen Altnagelvin Hospital/C-TRIC. Through national collaboration, we aim to ascertain 6,000 patients nationally. We are interested in investigating the spectrum of genomic factors contributing to IBD risk, disease progression and drug response to help develop better diagnostics and therapeutics.
  Inflammatory bowel diseases (IBD) are chronic inflammatory gastrointestinal disorders primarily affecting adults in the prime of their life. Patients can present with severe diarrhea, dehydration, weight loss and abdominal pain. There are two major forms of IBD, Crohn’s disease (CD) and Ulcerative colitis (UC). These are characterised by cycles of inflammation leading to disease flare-ups, with relapses and remission occurring in-between these medical crises. The incidence of UC (8.2/100,000 person-years) is greater than that of CD (5.4/100,000 person-years) (Burisch & Munkholm, 2015). CD is also associated with increased mortality in the Irish population (O’Toole et al, 2014), and there is an increased risk of colon cancer to both sets of patients. The genetic contribution to IBD has been well documented in families and twins (Bengtson et al, 2009; Cho & Brant, 2011; Liu et al, 2014; Halme et al, 2006; Brant et al, 2011).
  The focus of this study is to research how our genes, environment and lifestyle influence disease risk, disease subtype, disease progression and drug response. We will do this by using cutting edge techniques such as whole genome sequencing. This technique which will allow us to perform in-depth analysis of all genes at the same time compared to previously published research studies which only focused on small subsections of our genetic material.

  Lay Summary of Results:

  The research study called “The Genomic Basis of Inflammatory Bowel Disease” involved the recruitment of patients with Inflammatory Bowel Disease (IBD) at Altnagelvin Hospital/C-TRIC and various other healthcare facilities. The study was sponsored by Genuity Science (Ireland) Limited (formerly Genomics Medicine Ireland Limited).
  According to the Irish Society for Colitis and Crohn’s Disease, there are around 20,000 individuals in Ireland diagnosed with IBD (https://gbr01.safelinks.protection.outlook.com/?url=http%3A%2F%2Fwww.iscc.ie%2F%23!about%2Fc126y&data=05%7C02%7Cleedswest.rec%40hra.nhs.uk%7C71edddfcd9084290602408df0839007f%7C8e1f0acad87d4f20939e36243d574267%7C0%7C0%7C639238713050287907%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=JmAJoTfpmaIqTfGbuZjMZLR5ufmUDW%2B94QyAR0VSdXc%3D&reserved=0). IBD are chronic inflammatory gastrointestinal disorders primarily affecting adults in the prime of their life. Patients can present with severe diarrhea, dehydration, weight loss and abdominal pain. There are two major forms of IBD, Crohn’s disease (CD) and Ulcerative colitis (UC). These are characterised by cycles of inflammation leading to disease flare-ups, with relapses and remission occurring in-between these medical crises. The incidence of UC (8.2/100,000 person-years) is greater than that of CD (5.4/100,000 person-years) (Burisch & Munkholm, 2015). CD is also associated with increased mortality in the Irish population (O’Toole et al, 2014), and there is an increased risk of colon cancer to both sets of patients. The genetic contribution to IBD has been well documented in families and twins (Bengtson et al, 2009; Cho & Brant, 2011; Liu et al, 2014; Halme et al, 2006; Brant et al, 2011).
  This study aims to generate genomic data from biological substances in blood samples, such as DNA, RNA and proteins. The genomic data will be studied together with information about lifestyle and health to research how genes, environment and lifestyle influence disease risk, disease subtype, disease progression and drug response. This may help understand why some people develop IBD and/or why people experience different severities of symptoms and different responses to drug treatments.
  The recruitment phase of the study is complete and genomic data has been generated. The genomic, health and lifestyle data is currently being studied. It is hoped that the information gained from this study may lead to better diagnoses and treatments for individuals with IBD.

  Has the registry been updated to include summary results?: No
  If yes - please enter the URL to summary results:
  If no – why not?: N/A
  Did you follow your dissemination plan submitted in the IRAS application form (Q A51)?: Pending
  If yes, describe or provide URLs to disseminated materials:
  If pending, date when dissemination is expected: 22/05/2030
  If no, explain why you didn't follow it:
  Have participants been informed of the results of the study?: Pending
  If yes, describe and/or provide URLs to materials shared and how they were shared:
  If pending, date when feedback is expected: 22/05/2030
  If no, explain why they haven't:
  Have you enabled sharing of study data with others?: Yes
  If yes, describe or provide URLs to how it has been shared: N/A
  If no, explain why sharing hasn't been enabled:
  Have you enabled sharing of tissue samples and associated data with others?: No
  If yes, describe or provide a URL:
  If no, explain why: N/A
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• REC name

  Yorkshire & The Humber - Leeds West Research Ethics Committee

• REC reference

  17/YH/0257

• Date of REC Opinion

  31 Jul 2017

• REC opinion

  Favourable Opinion