Evidence map›Paper›PMID 36755464›Full record

ArticleMultiple sclerosis (Houndmills, Basingstoke, England)2023

Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis.

Mary K Horton, Joan E Shim, Amelia Wallace, Jennifer S Graves, Gregory Aaen, Benjamin Greenberg, Soe Mar, Yolanda Wheeler, Bianca Weinstock-Guttman, Amy Waldman and 13 more

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

Article in Multiple sclerosis (Houndmills, Basingstoke, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.8field-weighted citation impact, top 26% 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

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Article
  3. A narrative review of genetic and environmental factors and risk for multiple sclerosis. The design of the Italian multicentric PEDIGREE study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  4. Article
  5. Allele-specific vitamin D receptor binding is associated with pediatric-onset multiple sclerosis.Multiple sclerosis journal - experimental, translational and clinical
    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

23 authors at 15 institutions in 1 country.

Mary K HortonDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA/Center for Computational Biology, College of Engineering, University of California, Berkeley, CA, USA.ORCID 0000-0002-0854-4219
Joan E ShimDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA.
Amelia WallaceDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA/Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0001-9812-4236
Jennifer S GravesDepartment of Neurosciences, School of Medicine, University of California, San Diego, CA, USA/Department of Neurology, University of California, San Francisco, CA, USA.ORCID 0000-0003-1539-1940
Gregory AaenPediatric MS Center, Loma Linda University Children's Hospital, San Bernardino, CA, USA.
Benjamin GreenbergDepartment of Neurology, University of Texas Southwestern, Dallas, TX, USA.ORCID 0000-0002-2091-8201
Soe MarPediatric-Onset Demyelinating Diseases and Autoimmune Encephalitis Center, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA.
Yolanda WheelerAlabama Center for Pediatric-Onset Demyelinating Disease, Children's Hospital of Alabama, Birmingham, AL, USA.
Bianca Weinstock-GuttmanPediatric Multiple Sclerosis Center, Jacobs Neurological Institute, SUNY Buffalo, NY, USA.ORCID 0000-0001-6732-151X
Amy WaldmanDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Teri SchreinerChildren's Hospital Colorado, University of Colorado, Denver, CO, USA.ORCID 0000-0002-3816-812X
Moses RodriguezMayo Clinic's Pediatric Multiple Sclerosis Center, Rochester, MN, USA.
Jan-Mendelt TillemaMayo Clinic's Pediatric Multiple Sclerosis Center, Rochester, MN, USA.
Tanuja ChitnisPartners Pediatric Multiple Sclerosis Center, Massachusetts General Hospital for Children, Boston, MA, USA.ORCID 0000-0002-9897-4422
Lauren KruppLourie Center for Pediatric Multiple Sclerosis, Stony Brook Children's Hospital, Stony Brook, NY, USA.
T Charles CasperDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Mary RenselMellen Center, Cleveland Clinic, Cleveland, OH, USA.ORCID 0000-0001-9613-8394
Janace HartRegional Pediatric MS Center, Neurology, University of California, San Francisco, CA, USA.
Hong L QuachDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA/Center for Computational Biology, College of Engineering, University of California, Berkeley, CA, USA.
Diana L QuachDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA/Center for Computational Biology, College of Engineering, University of California, Berkeley, CA, USA.
Catherine SchaeferKaiser Permanente Division of Research, Oakland, CA, USA.
Emmanuelle WaubantDepartment of Neurology, University of California, San Francisco, CA, USA.
Lisa F BarcellosDivision of Epidemiology, School of Public Health, University of California, Berkeley, CA, USA/Center for Computational Biology, College of Engineering, University of California, Berkeley, CA, USA/Kaiser Permanente Division of Research, Oakland, CA, USA.
University of California, Berkeley · USUniversity of California, San Francisco · USKaiser Permanente · USMayo Clinic in Florida · USUniversity of Utah · USChildren's Hospital Colorado · USChildren's Hospital of Philadelphia · USChildren's of Alabama · USCleveland Clinic · USJacobs Institute · USLoma Linda University Children's Hospital · USMassachusetts General Hospital · USSt. Louis Children's Hospital · USStony Brook Children's Hospital · USThe University of Texas Southwestern Medical Center · US

Funding

A Resource for Genetic Epidemiology Research in Adult Health and AgingRC2AG036607 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI RISCH, NEIL J., SCHAEFER, CATHERINE ANN · 2009 to 2010
$24.8M
The Identification of Risk Factors for the Complex MS PhenotypeR01AI076544 · NIAID · UNIVERSITY OF CALIFORNIA BERKELEY · PI BARCELLOS, LISA F · 2008 to 2012
$3.6M
Novel Strategies to Identify GxE Contributions to MS PathogenesisR01ES017080 · NIEHS · UNIVERSITY OF CALIFORNIA BERKELEY · PI BARCELLOS, LISA F · 2011 to 2015
$3.0M
Environmental and genetic risk factors for pediatric MSR01NS071463 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI WAUBANT, EMMANUELLE LAURENCE · 2010 to 2015
$2.8M
Genetic and non-genetic risk factors in MSR01NS049510 · NINDS · UNIVERSITY OF CALIFORNIA BERKELEY · PI BARCELLOS, LISA F · 2005 to 2009
$2.7M
Childhood stress and multiple sclerosis: implications on risk and clinical outcomesF31NS108668 · NINDS · UNIVERSITY OF CALIFORNIA BERKELEY · PI HORTON, MARY · 2018 to 2020
$121k
NIAID NIH HHS R01 AI076544NIA NIH HHS RC2 AG036607NIEHS NIH HHS R01 ES017080NINDS NIH HHS F31 NS108668NINDS NIH HHS R01 NS049510NINDS NIH HHS R01 NS071463
6 · The paper itself

Abstract

backgroundRare genetic variants are emerging as important contributors to the heritability of multiple sclerosis (MS). Whether rare variants also contribute to pediatric-onset multiple sclerosis (POMS) is unknown.

objectiveTo test whether genes harboring rare variants associated with adult-onset MS risk (

methodsWe analyzed DNA samples from 330 POMS cases and 306 controls from the US Network of Pediatric MS Centers and Kaiser Permanente Northern California for which Illumina ExomeChip genotypes were available. Using the gene-based method "SKAT-O," we tested the association between candidate genes and POMS risk.

resultsAfter correction for multiple comparisons, one adult-onset MS gene (

conclusionFindings support a role for rare coding variants in POMS susceptibility. In particular, rare minor alleles within

Indexed as

Multiple SclerosisAdultAllelesChildGenetic Predisposition to DiseaseGenotypeHLA-DRB1 ChainsHumansHLA-DRB1 ChainsGWASMultiple sclerosispediatric-onsetPOMSrare variants

Identifiers

PMID36755464
PMCPMC10149552
OpenAlexW4319656318

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.