Evidence map›Paper›PMID 41330381›Full record

ArticleCell genomics2026

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Mingrui Yu, Qian Zhang, Kai Yuan, Aleksejs Sazonovs, Christine R Stevens, Laura Fachal, International Inflammatory Bowel Disease Genetics Consortium Sequencing Group,, Christopher A Lamb, Carl A Anderson, Mark J Daly and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Article
  2. Exome sequencing directly implicates 68 genes in inflammatory bowel disease.medRxiv : the preprint server for health sciences · 2026
    Article
  3. Article
  4. Article
  5. Review
  6. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Mingrui YuProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, the Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Qian ZhangGenomics of Inflammation and Immunity Group, Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK; UK Inflammatory Bowel Disease Genetics Consortium, Cambridge, UK; International Inflammatory Bowel Disease Genetics Consortium.
Kai YuanProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, the Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; International Inflammatory Bowel Disease Genetics Consortium.
Aleksejs SazonovsGenomics of Inflammation and Immunity Group, Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK.
Christine R StevensProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, the Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; International Inflammatory Bowel Disease Genetics Consortium.
Laura FachalGenomics of Inflammation and Immunity Group, Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK; UK Inflammatory Bowel Disease Genetics Consortium, Cambridge, UK; International Inflammatory Bowel Disease Genetics Consortium.
International Inflammatory Bowel Disease Genetics Consortium Sequencing Group,
Christopher A LambUK Inflammatory Bowel Disease Genetics Consortium, Cambridge, UK; International Inflammatory Bowel Disease Genetics Consortium; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Translational & Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, UK; NIHR IBD BioResource.
Carl A AndersonGenomics of Inflammation and Immunity Group, Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, UK; UK Inflammatory Bowel Disease Genetics Consortium, Cambridge, UK; International Inflammatory Bowel Disease Genetics Consortium. Electronic address: ca3@sanger.ac.uk.
Mark J DalyProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, the Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; International Inflammatory Bowel Disease Genetics Consortium; Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland; NIDDK Inflammatory Bowel Disease Genetics Consortium. Electronic address: mjdaly@broadinstitute.org.
Hailiang HuangProgram in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center for Psychiatric Research, the Broad Institute of MIT and Harvard, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; International Inflammatory Bowel Disease Genetics Consortium; NIDDK Inflammatory Bowel Disease Genetics Consortium. Electronic address: hhuang@broadinstitute.org.

Funding

Identification and characterization of inflammatory bowel disease causal variantsR01DK129364 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Hailiang Huang · 2022 to 2026
$3.4M
NIDDK NIH HHS R01 DK129364
6 · The paper itself

Abstract

Genetic mutations that yield a defective cystic fibrosis (CF) transmembrane regulator (CFTR) protein cause CF, a life-limiting autosomal-recessive Mendelian disorder. A protective role of CFTR loss-of-function mutations in inflammatory bowel disease (IBD) has been suggested, but its evidence has been inconclusive and contradictory. Here, leveraging a large IBD exome sequencing dataset comprising 38,558 cases and 66,945 controls of European ancestry in the discovery stage and a combined total of 42,475 cases and 192,050 controls across diverse ancestry groups in the replication stage, we established a protective role of CF-risk variants against IBD based on the association test of CFTR deltaF508 (p = 8.96E-11) and the gene-based burden test of CF-risk variants (p = 3.9E-07). Furthermore, we assessed variant prioritization methods, including AlphaMissense, using clinically annotated CF-risk variants as the gold standard. Our findings highlight the critical and unmet need for effective variant prioritization in gene-based burden tests.

Indexed as

Cystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenetic Predisposition to DiseaseInflammatory Bowel DiseasesCase-Control StudiesExome SequencingFemaleGenetic VariationHumansMaleMutationRisk FactorsCFTR protein, humanCystic Fibrosis Transmembrane Conductance RegulatorCFTRcystic fibrosisinflammatory bowel diseasepopulation geneticsprotective effectvariant effect prediction

Identifiers

PMID41330381
PMCPMC12903406

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Registered trials

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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.