Evidence map›Paper›PMID 32651235›Full record

ArticleGut2021

Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD.

Shixian Hu, Arnau Vich Vila, Ranko Gacesa, Valerie Collij, Christine Stevens, Jack M Fu, Isaac Wong, Michael E Talkowski, Manuel A Rivas, Floris Imhann and 12 more

Open access · hybridAbstract read
In one paragraph

Article in Gut, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 pooled it
3.0field-weighted citation impact, top 8% 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

37 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 3 institutions in 2 countries.

Shixian HuDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0002-1190-0325
Arnau Vich VilaDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0003-4691-5583
Ranko GacesaDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Valerie CollijDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Christine StevensProgram in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Jack M FuProgram in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA.
Isaac WongProgram in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA.
Michael E TalkowskiProgram in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA.
Manuel A RivasDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Floris ImhannDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Laura BolteDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Hendrik van DullemenDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Gerard DijkstraDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0003-4563-7462
Marijn C VisschedijkDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Eleonora A FestenDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Ramnik J XavierCenter for Microbiome Informatics and Therapeutic, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Jingyuan FuDepartment of Genetics, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Mark J DalyProgram in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Cisca WijmengaDepartment of Genetics, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Alexandra ZhernakovaDepartment of Genetics, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Alexander KurilshikovDepartment of Genetics, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.
Rinse K WeersmaDepartment of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands r.k.weersma@mdl.umcg.nl.ORCID 0000-0001-7928-7371
University Medical Center Groningen · NLBroad Institute · USStanford University · US

Funding

Pilot & Feasibility ProgramP30DK043351 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI RAYMOND T CHUNG · 1991 to 2026
$35.3M
Scalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR01MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2019 to 2025
$5.4M
Optimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2M
SOFTWARE FOR LARGE-SCALE INFERENCE OF THE GENETICS OF LIFESTYLE MEASURES, BIOMARKERS, AND COMMON AND RARE DISEASESR01HG010140 · NHGRI · STANFORD UNIVERSITY · PI KUNDAJE, ANSHUL, MONTGOMERY, STEPHEN · 2018 to 2022
$2.0M
Scalable tools and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR56MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2018 to 2018
$870k
NHGRI NIH HHS R01 HG010140NHGRI NIH HHS U01 HG009080NIDDK NIH HHS P30 DK043351NIMH NIH HHS R01 MH115957NIMH NIH HHS R56 MH115957
6 · The paper itself

Abstract

objectiveBoth the gut microbiome and host genetics are known to play significant roles in the pathogenesis of IBD. However, the interaction between these two factors and its implications in the aetiology of IBD remain underexplored. Here, we report on the influence of host genetics on the gut microbiome in IBD.

designTo evaluate the impact of host genetics on the gut microbiota of patients with IBD, we combined whole exome sequencing of the host genome and whole genome shotgun sequencing of 1464 faecal samples from 525 patients with IBD and 939 population-based controls. We followed a four-step analysis: (1) exome-wide microbial quantitative trait loci (mbQTL) analyses, (2) a targeted approach focusing on IBD-associated genomic regions and protein truncating variants (PTVs, minor allele frequency (MAF) >5%), (3) gene-based burden tests on PTVs with MAF <5% and exome copy number variations (CNVs) with site frequency <1%, (4) joint analysis of both cohorts to identify the interactions between disease and host genetics.

resultsWe identified 12 mbQTLs, including variants in the IBD-associated genes

conclusionThis study highlights that both common and rare genetic variants affecting the immune system are key factors in shaping the gut microbiota in the context of IBD and pinpoints towards potential mechanisms for disease treatment.

Indexed as

Exome SequencingAdaptor Proteins, Signal TransducingAdultCase-Control StudiesDNA Copy Number VariationsFemaleGastrointestinal MicrobiomeGene FrequencyGenetic Predisposition to DiseaseHumansInflammatory Bowel DiseasesMaleMembrane ProteinsMetagenomicsMiddle AgedQuantitative Trait LociAdaptor Proteins, Signal TransducingCABIN1 protein, humanIL17REL protein, humanMembrane ProteinsMyrf protein, humanReceptors, Interleukin-17SEC16A protein, humanTranscription FactorsVesicular Transport Proteinsgeneticsinflammatory bowel diseaseintestinal microbiology

Identifiers

PMID32651235
PMCPMC7815889
OpenAlexW3040840953

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.