Evidence map›Paper›PMID 40592943›Full record

ArticleScientific reports2025

Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis.

Aleksander Turk, Aleš Maver, Peter Juvan, Jelena Drulović, Šarlota Mesaroš, Ivana Novaković, Nada Starčević Čizmarević, Smiljana Ristič, Ivana Stanković Matić, Borut Peterlin

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Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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

1 citing paper in PubMed.

  1. 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

10 authors.

Aleksander TurkClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Aleš MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Peter JuvanClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Jelena DrulovićClinic of Neurology, Faculty of Medicine, UCCS, University of Belgrade, Belgrade, Serbia.
Šarlota MesarošClinic of Neurology, Faculty of Medicine, UCCS, University of Belgrade, Belgrade, Serbia.
Ivana NovakovićInstitute of Human Genetics, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Nada Starčević ČizmarevićDepartment of Medical Biology and Genetics, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.
Smiljana RističDepartment of Medical Biology and Genetics, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.
Ivana Stanković MatićDepartment of Medical Biology and Genetics, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.
Borut PeterlinClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia. borut.peterlin@kclj.si.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple sclerosis (MS) is an immune-mediated neurodegenerative disease affecting the central nervous system with many known genetic risk factors. Although genome-wide association studies (GWAS) have identified common genetic variants with small effects associated with MS, the role of rare variants with large effects in MS aetiology remains underexplored. We hypothesized that rare variants in MS-associated genes from GWAS studies (GWAS-associated genes) are more likely to contribute to familial MS (FMS) risk than to sporadic MS (SMS). Therefore, we aimed to assess the burden of rare, predicted pathogenic (RPP) variants in GWAS-associated genes in FMS and SMS patients compared to controls. Rare genetic variants in 111 GWAS-associated genes were assessed in 87 FMS, 89 SMS and 3866 control cases. We demonstrate that RPP variants were significantly overrepresented in the FMS cohort whereas their frequency was not increased in the SMS cohort compared to controls (p-values 5.27 × 10

Indexed as

Genetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyMultiple SclerosisAdultCase-Control StudiesFemaleHumansMalePolymorphism, Single NucleotideBurden analysisCandidate genesMultiple sclerosisRare pathological changesRare variantsWhole exome sequencing (WES)

Identifiers

PMID40592943
PMCPMC12219419

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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.