Evidence map›Paper›PMID 29950172›Full record

ArticleGenome medicine2018

Disease-specific regulation of gene expression in a comparative analysis of juvenile idiopathic arthritis and inflammatory bowel disease.

Angela Mo, Urko M Marigorta, Dalia Arafat, Lai Hin Kimi Chan, Lori Ponder, Se Ryeong Jang, Jarod Prince, Subra Kugathasan, Sampath Prahalad, Greg Gibson

Open access · goldAbstract readComparative Study
In one paragraph

Article in Genome medicine, 2018. 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
3.8field-weighted citation impact, top 6% 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, 69 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
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  5. Article
  6. The Integrated Cellular and Molecular Landscape of Autoimmunity.bioRxiv : the preprint server for biology · 2025
    Article
  7. Article
  8. Article
  9. Gene Expression Dysregulation in Whole Blood of Patients withInternational journal of molecular sciences · 2024
    Article
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  13. Review
  14. Article
  15. Article
  16. Article
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  18. Review
  19. Methods and Insights from Single-Cell Expression Quantitative Trait Loci.Annual review of genomics and human genetics · 2023
    Review
  20. Article
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

10 authors at 2 institutions in 1 country.

Angela MoCenter for Integrative Genomics and School of Biological Sciences, Georgia Institute of Technology, Engineered Biosystems Building, EBB 2115, 950 Atlantic Drive, Atlanta, GA, 30332, USA.
Urko M MarigortaCenter for Integrative Genomics and School of Biological Sciences, Georgia Institute of Technology, Engineered Biosystems Building, EBB 2115, 950 Atlantic Drive, Atlanta, GA, 30332, USA.
Dalia ArafatCenter for Integrative Genomics and School of Biological Sciences, Georgia Institute of Technology, Engineered Biosystems Building, EBB 2115, 950 Atlantic Drive, Atlanta, GA, 30332, USA.
Lai Hin Kimi ChanDepartment of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, 1760 Haygood Dr NE, Atlanta, GA, 30322, USA.
Lori PonderDepartment of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, 1760 Haygood Dr NE, Atlanta, GA, 30322, USA.
Se Ryeong JangDepartment of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, 1760 Haygood Dr NE, Atlanta, GA, 30322, USA.
Jarod PrinceDepartment of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, 1760 Haygood Dr NE, Atlanta, GA, 30322, USA.
Subra KugathasanDepartment of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, 1760 Haygood Dr NE, Atlanta, GA, 30322, USA.
Sampath PrahaladDepartment of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, 1760 Haygood Dr NE, Atlanta, GA, 30322, USA.
Greg GibsonCenter for Integrative Genomics and School of Biological Sciences, Georgia Institute of Technology, Engineered Biosystems Building, EBB 2115, 950 Atlantic Drive, Atlanta, GA, 30332, USA. greg.gibson@biology.gatech.edu.
Emory University · USGeorgia Institute of Technology · US

Funding

Gene discoveries in subjects with Crohn's disease of African descentR01DK087694 · NIDDK · EMORY UNIVERSITY · PI KUGATHASAN, SUBRA · 2011 to 2023
$10.3M
Statistical Methods for X-Chromosome Genetic DataP01GM099568 · NIGMS · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2012 to 2016
$7.3M
A Computational Biology and Predictive Health Genomics Training Program at GTT32GM105490 · NIGMS · GEORGIA INSTITUTE OF TECHNOLOGY · PI GIBSON, GREGORY C · 2014 to 2018
$901k
NIDDK NIH HHS R01 DK087694NIGMS NIH HHS P01 GM099568NIGMS NIH HHS T32 GM105490NIH HHS 1-P01-GM099568NIH HHS 2-R01-DK087694NIH HHS T32- GM105490
6 · The paper itself

Abstract

backgroundThe genetic and immunological factors that contribute to differences in susceptibility and progression between sub-types of inflammatory and autoimmune diseases continue to be elucidated. Inflammatory bowel disease and juvenile idiopathic arthritis are both clinically heterogeneous and known to be due in part to abnormal regulation of gene activity in diverse immune cell types. Comparative genomic analysis of these conditions is expected to reveal differences in underlying genetic mechanisms of disease.

methodsWe performed RNA-Seq on whole blood samples from 202 patients with oligoarticular, polyarticular, or systemic juvenile idiopathic arthritis, or with Crohn's disease or ulcerative colitis, as well as healthy controls, to characterize differences in gene expression. Gene ontology analysis combined with Blood Transcript Module and Blood Informative Transcript analysis was used to infer immunological differences. Comparative expression quantitative trait locus (eQTL) analysis was used to quantify disease-specific regulation of transcript abundance.

resultsA pattern of differentially expressed genes and pathways reveals a gradient of disease spanning from healthy controls to oligoarticular, polyarticular, and systemic juvenile idiopathic arthritis (JIA); Crohn's disease; and ulcerative colitis. Transcriptional risk scores also provide good discrimination of controls, JIA, and IBD. Most eQTL are found to have similar effects across disease sub-types, but we also identify disease-specific eQTL at loci associated with disease by GWAS.

conclusionJIA and IBD are characterized by divergent peripheral blood transcriptomes, the genetic regulation of which displays limited disease specificity, implying that disease-specific genetic influences are largely independent of, or downstream of, eQTL effects.

Indexed as

Gene Expression RegulationAdolescentArthritis, JuvenileCase-Control StudiesChildChild, PreschoolCluster AnalysisGenetic HeterogeneityGenome-Wide Association StudyHumansInfantInflammatory Bowel DiseasesQuantitative Trait LociRisk FactorsRNA, MessengerTranscription, GeneticRNA, MessengereQTLGene expressionInflammatory bowel diseaseJuvenile idiopathic arthritis

Identifiers

PMID29950172
PMCPMC6020373
OpenAlexW2810862053

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.