Evidence map›Paper›PMID 41688467›Full record

ArticleNature communications2026

eQTL in diseased colon tissue identifies potential target genes associated with IBD.

Nina C Nishiyama, Sophie Silverstein, Kimberly Darlington, Meaghan M Kennedy Ng, Katelyn M Clough, Mikaela Bauer, Caroline Beasley, Akshatha Bharadwaj, Rajee Ganesan, Muneera R Kapadia and 10 more

Abstract read
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors.

Nina C NishiyamaCurriculum in Bioinformatics and Computational Biology, Department of Genetics, School of Medicine, Department of Biology, College of Arts and Sciences, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Sophie SilversteinCenter for Gastrointestinal Biology and Disease, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0009-0002-9714-2330
Kimberly DarlingtonCenter for Gastrointestinal Biology and Disease, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Meaghan M Kennedy NgCurriculum in Bioinformatics and Computational Biology, Department of Genetics, School of Medicine, Department of Biology, College of Arts and Sciences, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Katelyn M CloughCenter for Gastrointestinal Biology and Disease, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0009-0000-4581-6327
Mikaela BauerCenter for Gastrointestinal Biology and Disease, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Caroline BeasleyCenter for Gastrointestinal Biology and Disease, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Akshatha BharadwajDepartment of Genetics, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Rajee GanesanDepartment of Genetics, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Muneera R KapadiaDepartment of Surgery, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Gwen LauCenter for Gastrointestinal Biology and Disease, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Grace LianCenter for Gastrointestinal Biology and Disease, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Reza RahbarDepartment of Surgery, REX Healthcare of Wakefield, Raleigh, NC, USA.
Timothy S SadiqDepartment of Surgery, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Matthew R SchanerCenter for Gastrointestinal Biology and Disease, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Jonathan StemDepartment of Surgery, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Jessica FritonDivision of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
William A FaubionDivision of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-1291-5745
Shehzad Z SheikhCenter for Gastrointestinal Biology and Disease, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. shehzad_sheikh@med.unc.edu.ORCID http://orcid.org/0000-0002-4238-3674
Terrence S FureyCurriculum in Bioinformatics and Computational Biology, Department of Genetics, School of Medicine, Department of Biology, College of Arts and Sciences, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. tsfurey@email.unc.edu.ORCID http://orcid.org/0000-0001-5546-9672

Funding

PILOT AND FEASIBILITY STUDIESP30DK034987 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ROBERT S. SANDLER · 1985 to 2026
$30.5M
High throughput functional studies of IBD-associated GWAS variantsR01DK136262 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Terrence S. Furey, SHEHZAD Z. SHEIKH · 2023 to 2026
$2.6M
Multi-omic characterization of genetic variants in IBD risk lociR01DK138462 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Terrence S. Furey, SHEHZAD Z. SHEIKH · 2024 to 2026
$1.4M
Using molecular quantitative trait loci mapping approaches to determine candidate gene regulatory mechanisms of functional variants within inflammatory bowel disease GWAS loci.F31DK137574 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI NISHIYAMA, NINA · 2024 to 2025
$85k
Leona M. and Harry B. Helmsley Charitable Trust (Helmsley Charitable Trust) 2105-04679NIDDK NIH HHS F31 DK137574NIDDK NIH HHS P30 DK034987NIDDK NIH HHS R01 DK136262NIDDK NIH HHS R01 DK138462U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases (National Institute of Diabetes & Digestive & Kidney Diseases) 1R01DK136262U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases (National Institute of Diabetes & Digestive & Kidney Diseases) 1R01DK138462U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases (National Institute of Diabetes & Digestive & Kidney Diseases) 2P01DK094779U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases (National Institute of Diabetes & Digestive & Kidney Diseases) F31DK137574U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) T32-GM135123
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have identified over 300 loci associated with the inflammatory bowel diseases (IBD), but putative causal genes for most loci are unknown. We conducted a disease-focused expression quantitative trait loci (eQTL) analysis using colon tissue from 252 IBD patients. We hypothesized IBD tissue could uncover IBD-associated regulatory variation undetectable in non-IBD cohorts. Here we show a total of 194 potential target genes for 108 IBD loci using eQTL from both IBD and non-IBD colon tissue. eQTL in IBD tissue were enriched for IBD GWAS colocalizations, provided evidence for genes such as ABO and TNFRSF14, and identified additional potential target genes compared to non-IBD tissue eQTL alone. Our results suggest disease state may alter the regulatory landscape and its characteristics, leading to increased effect sizes for some eQTL. These findings highlight the importance of diseased tissue eQTL studies for identifying potential consequences of IBD-associated variants.

Indexed as

ColonGenetic Predisposition to DiseaseInflammatory Bowel DiseasesQuantitative Trait LociFemaleGenome-Wide Association StudyHumansMalePolymorphism, Single Nucleotide

Identifiers

PMID41688467
PMCPMC13013683

What OpenQuestion holds

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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.