Evidence map›Paper›PMID 33152062›Full record

ArticleJournal of Crohn's & colitis2021

Genetic Risk Scores Identify Genetic Aetiology of Inflammatory Bowel Disease Phenotypes.

M D Voskuil, L M Spekhorst, K W J van der Sloot, B H Jansen, G Dijkstra, C J van der Woude, F Hoentjen, M J Pierik, A E van der Meulen, N K H de Boer and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in Journal of Crohn's & colitis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.8field-weighted citation impact, top 14% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Review
  3. Plasma protein-based and polygenic risk scores serve complementary roles in predicting inflammatory bowel disease.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2025
    Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. The Pharmacological Mechanism ofFrontiers in pharmacology · 2021
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 8 institutions in 1 country.

M D VoskuilDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
L M SpekhorstDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
K W J van der SlootDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
B H JansenDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
G DijkstraDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
C J van der WoudeDepartment of Gastroenterology and Hepatology, Erasmus Medical Centre, Rotterdam, The Netherlands.
F HoentjenDepartment of Gastroenterology and Hepatology, Radboud University Medical Centre, Nijmegen, The Netherlands.
M J PierikDepartment of Gastroenterology and Hepatology, Maastricht University Medical Centre+, Maastricht, The Netherlands.ORCID 0000-0001-6981-6516
A E van der MeulenDepartment of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands.
N K H de BoerDepartment of Gastroenterology and Hepatology, Amsterdam University Medical Centres, Vrije Universiteit Amsterdam, AG&M Research Institute, Amsterdam, The Netherlands.
M LöwenbergDepartment of Gastroenterology and Hepatology, Amsterdam University Medical Centres, Amsterdam, The Netherlands.
B OldenburgDepartment of Gastroenterology and Hepatology, University Medical Centre Utrecht, Utrecht, The Netherlands.
E A M FestenDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
R K WeersmaDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
University Medical Center Groningen · NLAmsterdam University Medical Centers · NLErasmus University Rotterdam · NLLeiden University · NLMaastricht University Medical Centre · NLRadboud University Nijmegen · NLUniversity Medical Center Utrecht · NLVrije Universiteit Amsterdam · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

aimsInflammatory bowel disease [IBD] phenotypes are very heterogeneous between patients, and current clinical and molecular classifications do not accurately predict the course that IBD will take over time. Genetic determinants of disease phenotypes remain largely unknown but could aid drug development and allow for personalised management. We used genetic risk scores [GRS] to disentangle the genetic contributions to IBD phenotypes.

methodsClinical characteristics and imputed genome-wide genetic array data of patients with IBD were obtained from two independent cohorts [cohort A, n = 1097; cohort B, n = 2156]. Genetic risk scoring [GRS] was used to assess genetic aetiology shared across traits and IBD phenotypes. Significant GRS-phenotype (false-discovery rate [FDR] corrected p <0.05) associations identified in cohort A were put forward for replication in cohort B.

resultsCrohn's disease [CD] GRS were associated with fibrostenotic CD [R2 = 7.4%, FDR = 0.02] and ileocaecal resection [R2 = 4.1%, FDR = 1.6E-03], and this remained significant after correcting for previously identified clinical and genetic risk factors. Ulcerative colitis [UC] GRS [R2 = 7.1%, FDR = 0.02] and primary sclerosing cholangitis [PSC] GRS [R2 = 3.6%, FDR = 0.03] were associated with colonic CD, and these two associations were largely driven by genetic variation in MHC. We also observed pleiotropy between PSC genetic risk and smoking behaviour [R2 = 1.7%, FDR = 0.04].

conclusionsPatients with a higher genetic burden of CD are more likely to develop fibrostenotic disease and undergo ileocaecal resection, whereas colonic CD shares genetic aetiology with PSC and UC that is largely driven by variation in MHC. These results further our understanding of specific IBD phenotypes.

Indexed as

Cholangitis, SclerosingColitis, UlcerativeCrohn DiseaseAdultDigestive System Surgical ProceduresFemaleGenetic Association StudiesGenetic TestingGenome-Wide Association StudyHumansMaleMiddle AgedNetherlandsPatient Care ManagementPharmacogeneticsRisk FactorsGeneticsinflammatory bowel diseasephenotypes

Identifiers

PMID33152062
PMCPMC8218708
OpenAlexW3095524800

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.