Evidence map›Paper›PMID 35347896›Full record

ArticleArthritis & rheumatology (Hoboken, N.J.)2022

Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.

Jin Li, Yun R Li, Joseph T Glessner, Jie Yang, Michael E March, Charlly Kao, Courtney N Vaccaro, Jonathan P Bradfield, Junyi Li, Frank D Mentch and 18 more

Open access · hybridAbstract read
In one paragraph

Article in Arthritis & rheumatology (Hoboken, N.J.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.0field-weighted citation impact, top 24% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
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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

28 authors at 9 institutions in 4 countries.

Jin LiDepartment of Cell Biology, the Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.ORCID 0000-0001-7024-3591
Yun R LiThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, City of Hope Comprehensive Cancer Center, Duarte, California, and Translational Genomics Research Institute, Phoenix, Arizona.
Joseph T GlessnerThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Jie YangDepartment of Cell Biology, the Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Michael E MarchThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Charlly KaoThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Courtney N VaccaroThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Jonathan P BradfieldThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Junyi LiDepartment of Cell Biology, the Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Frank D MentchThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Hui-Qi QuThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.ORCID 0000-0001-9317-4488
Xiaohui QiDepartment of Cell Biology, the Province and Ministry Co-sponsored Collaborative Innovation Center for Medical Epigenetics, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Xiao ChangThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Cuiping HouThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Debra J AbramsThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Haijun QiuThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Zhi WeiNew Jersey Institute of Technology, Newark.
John J ConnollyThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Fengxiang WangThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
James SnyderThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Berit FlatøOslo University Hospital, Rikshospitalet, Oslo, Norway.
Susan D ThompsonUniversity of Cincinnati College of Medicine and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.ORCID 0000-0003-4130-2796
Carl D LangefeldWake Forest University School of Medicine, Winston-Salem, North Carolina.
Benedicte A LieOslo University Hospital, Rikshospitalet, Oslo, Norway.
Jane E MunroRoyal Children's Hospital, Parkville, Victoria, Australia.
Carol WiseScottish Rite for Children, Dallas, Texas.ORCID 0000-0002-6790-2194
Patrick M A SleimanThe Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia.
Hakon HakonarsonThe Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia.ORCID 0000-0003-2814-7461
Children's Hospital of Philadelphia · USTianjin Medical University · CNOslo University Hospital · NOCincinnati Children's Hospital Medical Center · USNew Jersey Institute of Technology · USRoyal Children's Hospital · AUTexas Scottish Rite Hospital for Children · USTranslational Genomics Research Institute · USWake Forest University · US

Funding

Oncology Research Career Development ProgramK12CA001727 · NCI · CITY OF HOPE NATIONAL MEDICAL CENTER · PI MORTIMER, JOANNE E. · 1992 to 2024
$14.6M
Integrative Analysis of a GWAS Repository with EMRs from over 40,000 ChildrenU01HG006830 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI HAKONARSON, HAKON · 2012 to 2014
$3.7M
Examining the impact of the obesity-inflammation axis on cancer by genomic and transcriptomic profilingF32CA232635 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LI, YUN ROSE · 2018 to 2020
$202k
Integrative Analysis of Genomic Risk Factors in Juvenile Idiopathic ArthritisF30AR066486 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI LI, YUN ROSE · 2014 to 2015
$93k
NCI NIH HHS F32 CA232635NCI NIH HHS K12 CA001727NHGRI NIH HHS U01 HG006830NHGRI NIH HHS U01-HG006830NIAMS NIH HHS F30 AR066486
6 · The paper itself

Abstract

objectiveJuvenile idiopathic arthritis (JIA) is the most common chronic immune-mediated joint disease among children and encompasses a heterogeneous group of immune-mediated joint disorders classified into 7 subtypes according to clinical presentation. However, phenotype overlap and biologic evidence suggest a shared mechanistic basis between subtypes. This study was undertaken to systematically investigate shared genetic underpinnings of JIA subtypes.

methodsWe performed a heterogeneity-sensitive genome-wide association study encompassing a total of 1,245 JIA cases (classified into 7 subtypes) and 9,250 controls, followed by fine-mapping of candidate causal variants at each genome-wide significant locus, functional annotation, and pathway and network analysis. We further identified candidate drug targets and drug repurposing opportunities by in silico analyses.

resultsIn addition to the major histocompatibility complex locus, we identified 15 genome-wide significant loci shared between at least 2 JIA subtypes, including 10 novel loci. Functional annotation indicated that candidate genes at these loci were expressed in diverse immune cell types.

conclusionThis study identified novel genetic loci shared by JIA subtypes. Our findings identified candidate mechanisms underlying JIA subtypes and candidate targets with drug repurposing opportunities for JIA treatment.

Indexed as

Arthritis, JuvenileGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPolymorphism, Single Nucleotide

Identifiers

PMID35347896
PMCPMC9542075
OpenAlexW4221041669

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.