Evidence map›Paper›PMID 35002226›Full record

ArticleBioinformatics and biology insights2021

Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Dago Dougba Noel, Pinelli Marinella, Giacomelli Mauro, Serena Ilaria Tripodi, Alessia Pin, Arrigo Serena, Bramuzzo Matteo, Fuoti Maurizio Giuseppe, Alvisi Patrizia, Calza Stefano and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Bioinformatics and biology insights, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 31% 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

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
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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

12 authors at 5 institutions in 2 countries.

Dago Dougba NoelDepartment of Clinical and Experimental Sciences, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia and Children's Hospital, ASST Spedali Civili, Brescia, Italy.ORCID https://orcid.org/0000-0003-1517-054X
Pinelli MarinellaDepartment of Clinical and Experimental Sciences, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia and Children's Hospital, ASST Spedali Civili, Brescia, Italy.
Giacomelli MauroDepartment of Clinical and Experimental Sciences, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia and Children's Hospital, ASST Spedali Civili, Brescia, Italy.
Serena Ilaria TripodiDepartment of Clinical and Experimental Sciences, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia and Children's Hospital, ASST Spedali Civili, Brescia, Italy.
Alessia PinIRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
Arrigo SerenaPediatric Hospital Giannina Gaslini, Genoa, Italy.
Bramuzzo MatteoIRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
Fuoti Maurizio GiuseppeASST Spedali Civili, Brescia, Italy.
Alvisi PatriziaPediatric Gastroenterology Unit, Maggiore Hospital, Bologna, Italy.
Calza StefanoUnit of Biostatistics and Biomathematics & Unit of Bioinformatics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Alberto TommasiniIRCCS Materno Infantile Burlo Garofolo, Trieste, Italy.
Badolato RaffaeleDepartment of Clinical and Experimental Sciences, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia and Children's Hospital, ASST Spedali Civili, Brescia, Italy.
University of Brescia · ITIRCCS Materno Infantile Burlo Garofolo · ITAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITIstituto Giannina Gaslini · ITUniversité Pelefero Gon Coulibaly · CI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInflammatory bowel diseases (IBDs) are complex, multifactorial disorders that comprise Crohn's disease (CD) and ulcerative colitis (UC). Recent discoveries have brought much attention to the genetic predisposition of patients with IBD. Here we evaluate the interaction between IBD genetic risk factors susceptibility and CD occurrence in an IBD pediatric patient population, performing a clinical exome survey.

methodsFrom February 2018 to April 2019, we collected blood samples from 7 pediatric patients with IBD concerns from several collaborating health centers and/or hospitals. Blood samples were processed by extracting and sequencing DNA for a clinical exome survey. Shophia-DDM-v3-4 platform allowed sequenced reads alignment on hg19 genome as well as genetic variant calling. Both IBD risk and pathogenic genetic variants covered by at least 20 reads were selected for subjacent analysis.

resultsNormality and Bartlett tests of both risk and pathogenic genetic variants suggested random and heterogeneous distribution of these variants in this group of IBD pediatric patients.

conclusionOur study revealed specific genetic variants linked to CD susceptibility, autoimmune and/or innate immunodeficiency as well as to metabolic defects, as favoring factors of IBD, suggesting the valuable role of next generation sequencing (NGS) approaches in IBD molecular diagnostic procedures.

Indexed as

Crohn’s diseasegenetic variantsInflammatory bowel diseaseNGS-next generation sequencingpediatric patients

Identifiers

PMID35002226
PMCPMC8728778
OpenAlexW4205949190

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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.