Cohort profile: design and first results of the Dutch IBD Biobank: a prospective, nationwide biobank of patients with inflammatory bowel disease

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Abstract

Purpose

The Dutch IBD Biobank aims to facilitate the discovery of predictors for individual disease course and treatment response in patients with inflammatory bowel disease (IBD). In this paper, we aim to describe the establishment of the Dutch IBD Biobank, including the facilitators and barriers to establishment. Moreover, we aim to provide a complete overview of the content of the Dutch IBD Biobank.

Participants

Since 2007, every patient with IBD treated in one of the eight Dutch university medical centres is asked to participate in the Dutch IBD Biobank in which 225 standardised IBD-related data items and biomaterials, such as serum, DNA, biopsies and a stool sample, are collected.

Findings to date

As of June 2014, the Dutch IBD Biobank had enrolled 3388 patients with IBD: 2118 Crohn’s disease (62.5%), 1190 ulcerative colitis (35.1%), 74 IBD-unclassified (2.2%) and 6 IBD-indeterminate (0.2%). The inclusion of patients with IBD is ongoing. The quality of the biomaterials is good and serum, DNA and biopsies have been used in newly published studies.

Future plans

The genotyping (750 000 genetic variants) of all participants of the Dutch IBD Biobank is currently ongoing, enabling more genetic research. In addition, all participants will start reporting disease activity and outcome measures using an online platform and mobile app.

Related collections

Most cited references 18

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Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

Isabelle Cleynen, Gabrielle Boucher, Luke Jostins … (2016)

Summary Background Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases. Methods This study included patients from 49 centres in 16 countries in Europe, North America, and Australasia. We applied the Montreal classification system of inflammatory bowel disease subphenotypes to 34 819 patients (19 713 with Crohn's disease, 14 683 with ulcerative colitis) genotyped on the Immunochip array. We tested for genotype–phenotype associations across 156 154 genetic variants. We generated genetic risk scores by combining information from all known inflammatory bowel disease associations to summarise the total load of genetic risk for a particular phenotype. We used these risk scores to test the hypothesis that colonic Crohn's disease, ileal Crohn's disease, and ulcerative colitis are all genetically distinct from each other, and to attempt to identify patients with a mismatch between clinical diagnosis and genetic risk profile. Findings After quality control, the primary analysis included 29 838 patients (16 902 with Crohn's disease, 12 597 with ulcerative colitis). Three loci (NOD2, MHC, and MST1 3p21) were associated with subphenotypes of inflammatory bowel disease, mainly disease location (essentially fixed over time; median follow-up of 10·5 years). Little or no genetic association with disease behaviour (which changed dramatically over time) remained after conditioning on disease location and age at onset. The genetic risk score representing all known risk alleles for inflammatory bowel disease showed strong association with disease subphenotype (p=1·65 × 10−78), even after exclusion of NOD2, MHC, and 3p21 (p=9·23 × 10−18). Predictive models based on the genetic risk score strongly distinguished colonic from ileal Crohn's disease. Our genetic risk score could also identify a small number of patients with discrepant genetic risk profiles who were significantly more likely to have a revised diagnosis after follow-up (p=6·8 × 10−4). Interpretation Our data support a continuum of disorders within inflammatory bowel disease, much better explained by three groups (ileal Crohn's disease, colonic Crohn's disease, and ulcerative colitis) than by Crohn's disease and ulcerative colitis as currently defined. Disease location is an intrinsic aspect of a patient's disease, in part genetically determined, and the major driver to changes in disease behaviour over time. Funding International Inflammatory Bowel Disease Genetics Consortium members funding sources (see Acknowledgments for full list).

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The prevalence of extraintestinal diseases in inflammatory bowel disease: a population-based study.

K. Yu, J.-B. Blanchard, P Rawsthorne … (2001)

The aim of this study was to determine the prevalence of the major extraintestinal manifestations of inflammatory bowel disease (IBD) and their relation to disease diagnosis and gender. We used the population-based University of Manitoba IBD Database, which includes longitudinal files on all subjects of all health system contacts identified by International Classification of Diseases, 9th Revision, Clinical Modification codes for visit diagnosis. We extracted a cohort from our database, which included subjects with a known diagnosis of IBD for at least 10 yr. We then determined how many contacts each subject had for each of the following extraintestinal IBD-associated immune diseases: primary sclerosing cholangitis, ankylosing spondylitis, iritis/uveitis, pyoderma gangrenosum, and erythema nodosum. We calculated the prevalence of the extraintestinal diseases using an administrative definition of having at least five health system contacts for the diagnosis in question. This administrative definition has previously been validated in Crohn's disease and ulcerative colitis (UC). A total of 6.2% of patients with IBD had one of six major extraintestinal diseases studied in this report. Only 0.3% of patients had multiple extraintestinal diseases. Iritis/uveitis was the most common extraintestinal disease of all assessed (2.2% of women and 1.1% of men). Iritis/uveitis was more common among women, particularly those with UC (3.8%). Primary sclerosing cholangitis was most common among men with UC (3%). Ankylosing spondylitis was more common among men, and the highest rate was seen among men with Crohn's disease (2.7%). Pyoderma gangrenosum was more common in Crohn's (1.2%) with no gender predilection. Erythema nodosum was similarly present in Crohn's and UC but was more common among women (1.9%). The associations of immune mediated diseases in extraintestinal sites may help us to further our understanding of IBD pathogenesis, and it may help us in developing a paradigm of disease subsets.

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A simple classification of Crohn's disease: report of the Working Party for the World Congresses of Gastroenterology, Vienna 1998.

C Gasche, G D’Haens, W Sandborn … (2000)

Crohn's disease is a heterogeneous entity. Previous attempts of classification have been based primarily on anatomic location and behavior of disease. However, no uniform definition of patient subgroups has yet achieved broad acceptance. The aim of this international Working Party was to develop a simple classification of Crohn's disease based on objective variables. Eight outcome-related variables relevant to Crohn's disease were identified and stepwise evaluated in 413 consecutive cases, a database survey, and by clinical considerations. Allocation of variables was conducted with well-defined Crohn's disease populations from Europe and North America. Cross-table analyses were performed by chi-square testing. Three variables were finally elected: Age at Diagnosis [below 40 years (A1), equal to or above 40 years (A2)], Location [terminal ileum (L1), colon (L2), ileocolon (L3), upper gastrointestinal (L4)], and Behavior [nonstricturing nonpenetrating (B1), stricturing (B2), penetrating (B3)]. The allocation of patients to these 24 subgroups proved feasible and resulted in specific disease clusters. Cross-table analyses revealed associations between Age at Diagnosis and Location, and between Behavior and Location (all p < 0.001). The Vienna classification of Crohn's disease provides distinct definitions to categorize Crohn's patients into 24 subgroups. Operational guidelines should be used for the characterization of patients in clinical trials as well as for correlation of particular phenotypes with putative biologic markers or environmental factors.

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Author and article information

Journal

Journal ID (nlm-ta): BMJ Open

Journal ID (iso-abbrev): BMJ Open

Journal ID (hwp): bmjopen

Journal ID (publisher-id): bmjopen

Title: BMJ Open

Publisher: BMJ Publishing Group (BMA House, Tavistock Square, London, WC1H 9JR )

ISSN (Electronic): 2044-6055

Publication date Collection: 2017

Publication date (Electronic): 8 November 2017

Volume: 7

Issue: 11

Electronic Location Identifier: e016695

Affiliations

[1 ]departmentDepartment of Gastroenterology and Hepatology , University of Groningen and Medical Center Groningen , Groningen, The Netherlands

[2 ]departmentDepartment of Genetics , University of Groningen and University Medical Center Groningen , Groningen, The Netherlands

[3 ]departmentDepartment of Gastroenterology and Hepatology , VU University Medical Centre , Amsterdam, The Netherlands

[4 ]departmentDepartment of Gastroenterology and Hepatology , University Medical Centre Utrecht , Utrecht, The Netherlands

[5 ]departmentDepartment of Gastroenterology and Hepatology , Amsterdam Medical Centre , Amsterdam, The Netherlands

[6 ]departmentDepartment of Gastroenterology and Hepatology , University Medical Centre St. Radboud , Nijmegen, The Netherlands

[7 ]departmentUCLA Center for Inflammatory Bowel Diseases, Division of Digestive Diseases , David Geffen School of Medicine, University of California , California, Los Angeles, USA

[8 ]departmentDepartment of Gastroenterology and Hepatology , Leiden University Medical Centre , Leiden, The Netherlands

[9 ]departmentDepartment of Gastroenterology and Hepatology , University Medical Centre Maastricht , Maastricht, The Netherlands

[10 ]departmentDepartment of Gastroenterology and Hepatology , St Lucas Andreas Ziekenhuis , Amsterdam, The Netherlands

[11 ]departmentDepartment of Gastroenterology and Hepatology , Erasmus Medical Centre , Rotterdam, The Netherlands

Author notes

[Correspondence to ] Dr Rinse K Weersma; r.k.weersma@ 123456umcg.nl

Article

Publisher ID: bmjopen-2017-016695

DOI: 10.1136/bmjopen-2017-016695

PMC ID: 5695377

PubMed ID: 29122790

SO-VID: 799bbd22-fe9b-4997-99d4-179a505c69b5

License:

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

History

Date received : 03 March 2017

Date revision received : 12 September 2017

Date accepted : 15 September 2017

Funding

Funded by: M.C. Visschedijk;

Funded by: R.K. Weersma;

Funded by: E.A.M Festen;

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ScienceOpen disciplines: Medicine

Keywords: gastroenterology,inflammatory bowel disease,ulcerative colitis,crohn’s disease,biobank

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ScienceOpen disciplines: Medicine

Keywords: gastroenterology, inflammatory bowel disease, ulcerative colitis, crohn’s disease, biobank

Cohort profile: design and first results of the Dutch IBD Biobank: a prospective, nationwide biobank of patients with inflammatory bowel disease

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Abstract

Purpose

Participants

Findings to date

Future plans

Related collections

Karger: Gastroenterology

Most cited references 18

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

The prevalence of extraintestinal diseases in inflammatory bowel disease: a population-based study.

A simple classification of Crohn's disease: report of the Working Party for the World Congresses of Gastroenterology, Vienna 1998.

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