Evidence map›Paper›PMID 35418025›Full record

SynthesisBMC genomics2022

A systematic review and functional bioinformatics analysis of genes associated with Crohn's disease identify more than 120 related genes.

Debora Garza-Hernandez, Maricruz Sepulveda-Villegas, Jose Garcia-Pelaez, Raul Aguirre-Gamboa, Peter L Lakatos, Karol Estrada, Manuel Martinez-Vazquez, Victor Trevino

Open access · goldAbstract readSystematic Review
In one paragraph

Synthesis in BMC genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
3.2field-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

11 citing papers in PubMed, 18 citations in OpenAlex.

  1. Gain-of-function mutation inbioRxiv : the preprint server for biology · 2026
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  11. Autoencoder-Transformed Transcriptome Improves Genotype-Phenotype Association Studies.IEEE transactions on computational biology and bioinformatics
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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

8 authors at 6 institutions in 4 countries.

Debora Garza-HernandezTecnologico de Monterrey, Escuela de Medicina, Cátedra de Bioinformática, Av. Morones Prieto No. 3000, Colonia Los Doctores, 64710, Monterrey, Nuevo León, Mexico.
Maricruz Sepulveda-VillegasTecnologico de Monterrey, Escuela de Medicina, Cátedra de Bioinformática, Av. Morones Prieto No. 3000, Colonia Los Doctores, 64710, Monterrey, Nuevo León, Mexico.
Jose Garcia-PelaezInstituto de Investigação e Inovação em Saude-i3S, Universidade do Porto, Porto, Portugal.
Raul Aguirre-GamboaDepartment of Human Genetics, University of Chicago, Chicago, USA.
Peter L LakatosMcGill University Health Centre, Division of Gastroenterology, IBD Centre, Montreal General Hospital, 1650 Ave. Cedar, D16.173.1, Montreal, QC, H3G 1A4, Canada.
Karol EstradaGraduate Professional Studies, Brandeis University, Waltham, MA, 02453, USA.
Manuel Martinez-VazquezTecnologico de Monterrey, Instituto de Medicina Interna, Centro Médico Zambrano Hellion, Av. Batallón de San Patricio No. 112, Colonia Real San Agustín, 66278, San Pedro Garza García, Nuevo León, Mexico.
Victor TrevinoTecnologico de Monterrey, Escuela de Medicina, Cátedra de Bioinformática, Av. Morones Prieto No. 3000, Colonia Los Doctores, 64710, Monterrey, Nuevo León, Mexico. vtrevino@tec.mx.
Tecnológico de Monterrey · MXBrandeis University · USHospital Zambrano Hellion · MXMcGill University Health Centre · CAUniversidade do Porto · PTUniversity of Chicago · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCrohn's disease is one of the two categories of inflammatory bowel diseases that affect the gastrointestinal tract. The heritability estimate has been reported to be 0.75. Several genes linked to Crohn's disease risk have been identified using a plethora of strategies such as linkage-based studies, candidate gene association studies, and lately through genome-wide association studies (GWAS). Nevertheless, to our knowledge, a compendium of all the genes that have been associated with CD is lacking.

methodsWe conducted functional analyses of a gene set generated from a systematic review where genes potentially related to CD found in the literature were analyzed and classified depending on the genetic evidence reported and putative biological function. For this, we retrieved and analyzed 2496 abstracts comprising 1067 human genes plus 22 publications regarding 133 genes from GWAS Catalog. Then, each gene was curated and categorized according to the type of evidence associated with Crohn's disease.

resultsWe identified 126 genes associated with Crohn's disease risk by specific experiments. Additionally, 71 genes were recognized associated through GWAS alone, 18 to treatment response, 41 to disease complications, and 81 to related diseases. Bioinformatic analysis of the 126 genes supports their importance in Crohn's disease and highlights genes associated with specific aspects such as symptoms, drugs, and comorbidities. Importantly, most genes were not included in commercial genetic panels suggesting that Crohn's disease is genetically underdiagnosed.

conclusionsWe identified a total of 126 genes from PubMed and 71 from GWAS that showed evidence of association to diagnosis, 18 to treatment response, and 41 to disease complications in Crohn's disease. This prioritized gene catalog can be explored at http://victortrevino.bioinformatics.mx/CrohnDisease .

Indexed as

Crohn DiseaseInflammatory Bowel DiseasesComputational BiologyGenome-Wide Association StudyHumansCrohn’s diseaseFunctional variantsGenesInflammatory bowel diseaseMutations

Identifiers

PMID35418025
PMCPMC9008988
OpenAlexW4223932115

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.