Evidence map›Paper›PMID 29409597›Full record

ArticleMultiple sclerosis and related disorders2018

The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults.

Jennifer S Graves, Lisa F Barcellos, Steve Simpson, Anita Belman, Rui Lin, Bruce V Taylor, Anne-Louise Ponsonby, Terence Dwyer, Lauren Krupp, Emmanuelle Waubant and 1 more

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

Article in Multiple sclerosis and related disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.7field-weighted citation impact, top 16% 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

9 citing papers in PubMed, 21 citations in OpenAlex.

  1. The Barancik lecture: Comorbidity in multiple sclerosis-Looking backward, looking forward.Multiple sclerosis (Houndmills, Basingstoke, England) · 2023
    Article
  2. Article
  3. Review
  4. Review
  5. Frontiers in genetics · 2021
    Article
  6. Environmental and genetic risk factors for MS: an integrated review.Annals of clinical and translational neurology · 2019
    Review
  7. Pediatric Multiple Sclerosis: an Update.Current neurology and neuroscience reports · 2018
    Review
  8. Review
  9. Review
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

11 authors at 3 institutions in 3 countries.

Jennifer S GravesUCSF Pediatric MS Center, San Francisco, CA, USA; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: Jennifer.Graves@ucsf.edu.
Lisa F BarcellosGenetic Epidemiology and Genomics Lab, School of Public Health, and California Institute of Quantitative Biosciences, UC Berkeley, Berkeley, CA, USA; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: Lauren.Krupp@nyumc.org.
Steve SimpsonMenzies Institute for Medical Research, University of Tasmania, Hobart, Australia; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: lbarcellos@genepi.berkeley.edu.
Anita BelmanNational Pediatric MS Center, Stonybrook, NY, USA; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: abelman@notes.cc.sunysb.edu.
Rui LinMenzies Institute for Medical Research, University of Tasmania, Hobart, Australia; Guangxi Center for Disease Prevention and Control, Nanning, China; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: Emmanuelle.Waubant@ucsf.edu.
Bruce V TaylorMenzies Institute for Medical Research, University of Tasmania, Hobart, Australia; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: ingrid.vandermei@utas.edu.au.
Anne-Louise PonsonbyMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: steve.simpson@utas.edu.au.
Terence DwyerMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: rui.lin@utas.edu.au.
Lauren KruppNational Pediatric MS Center, Stonybrook, NY, USA; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: bruce.taylor@utas.edu.au.
Emmanuelle WaubantUCSF Pediatric MS Center, San Francisco, CA, USA; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: anne-louise.ponsonby@mcri.edu.au.
Ingrid A F van der MeiMenzies Institute for Medical Research, University of Tasmania, Hobart, Australia; School of Medicine, University of Tasmania, Hobart, Australia. Electronic address: terry.dwyer@mcri.edu.au.
University of Tasmania · AUMurdoch Children's Research Institute · AUQB3 · US

Funding

Environmental and genetic risk factors for pediatric MSR01NS071463 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI WAUBANT, EMMANUELLE LAURENCE · 2010 to 2015
$2.8M
NINDS NIH HHS R01 NS071463
6 · The paper itself

Abstract

backgroundWhile common variant non-HLA (human leukocyte antigen) alleles have been associated with MS risk, their role in disease course is less clear. We sought to determine whether established multiple sclerosis (MS) genetic susceptibility factors are associated with relapse rate in children and an independent cohort of adults with MS.

methodsGenotyping was performed for 182 children with MS or clinically isolated syndrome with high risk for MS from two Pediatric MS Centers. They were prospectively followed for relapses. Fifty-two non-HLA MS susceptibility single nucleotide polymorphisms (SNPs) were evaluated for association with relapse rate. Cox regression models were adjusted for sex, genetic ancestry, disease-modifying therapy (DMT), 25-OH vitamin D level and HLA-DRB1*15:01/03 status. Investigation of pediatric subject SNP results was performed using a second cohort of 141 adult MS subjects of Northern European ancestry from the Southern Tasmanian Multiple Sclerosis Longitudinal Study.

resultsFor pediatric subjects, 408 relapses were captured over 622 patient-years of follow-up. Four non-HLA risk SNPs (rs11154801, rs650258, rs12212193, rs2303759) were associated with relapses (p < 0.01) in the pediatric subjects. After adjustment for genetic ancestry, sex, age, vitamin D level, DMT use and HLA-DRB1*15 status, having two copies of the MS risk allele within AHI1 (rs11154801) was associated with increased relapses among children (HR = 1.75,95%CI = 1.18-2.48, p = 0.006) and this result was also observed among adults (HR = 1.81,95%CI = 1.05-3.03, p = 0.026).

conclusionsOur results suggest that the MS genetic risk variant within the gene AHI1 may contribute to disease course in addition to disease susceptibility.

Indexed as

Genetic Predisposition to DiseaseAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAdolescentAdultAllelesCaliforniaChildFemaleGenotypeHumansLongitudinal StudiesMaleMiddle AgedMultiple SclerosisNew YorkAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAHI1 protein, humanGeneticsMultiple sclerosis

Identifiers

PMID29409597
PMCPMC5806144
OpenAlexW2764194024

What OpenQuestion holds

Textmetadata
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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.