Evidence map›Paper›PMID 40225927›Full record

ArticleHuman mutation2024

Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases.

Ming Chen, Allan Motyer, Bruce V Taylor, Bennet J McComish, Kathryn P Burdon, Jac C Charlesworth, Nicholas B Blackburn

Abstract read
In one paragraph

Article in Human mutation, 2024. 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

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

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

7 authors.

Ming ChenMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.ORCID 0000-0002-0955-7601
Allan MotyerMelbourne Integrative Genomics, The University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0002-5552-2469
Bruce V TaylorMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.ORCID 0000-0003-2807-0070
Bennet J McComishMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.ORCID 0000-0003-1940-0007
Kathryn P BurdonMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.ORCID 0000-0001-8217-1249
Jac C CharlesworthMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.ORCID 0000-0001-6201-3518
Nicholas B BlackburnMenzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.ORCID 0000-0002-9774-1539

Funding

Medical Research Council
6 · The paper itself

Abstract

Multiple sclerosis (MS) is a complex neurological and autoimmune disease with an established genetic component. Families with multiple cases of MS are rare but do occur. We hypothesised that multicase families may have a heightened polygenic risk for MS. In this work, we have determined whether polygenic risk for MS is enriched in multicase families in comparison to a case-control cohort. Using the findings from the largest MS genome-wide association study, we calculated a weighted polygenic risk score (wPRS) for MS. We applied this wPRS to study a population-based MS case-control cohort (3,252 people with MS and 5,725 controls) and three multicase MS families (9 individuals with MS, 10 unaffected family members). For both the population-based cohort and the three families, 167 of the 233 known genome-wide significant MS-associated variants were identified and used to calculate the wPRS. Within the population-based cohort, the wPRS was significantly higher in MS cases than controls (

Indexed as

Genetic Predisposition to DiseaseMultifactorial InheritanceMultiple SclerosisCase-Control StudiesFamilyFemaleGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideRisk Factors

Identifiers

PMID40225927
PMCPMC11919224

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.