Evidence map›Paper›PMID 37841069›Full record

ArticleBrain communications2023

Genetic influences on disease course and severity, 30 years after a clinically isolated syndrome.

Nitin Sahi, Lukas Haider, Karen Chung, Ferran Prados Carrasco, Baris Kanber, Rebecca Samson, Alan J Thompson, Claudia A M Gandini Wheeler-Kingshott, S Anand Trip, Wallace Brownlee and 5 more

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

Article in Brain communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 22% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. 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

15 authors at 3 institutions in 5 countries.

Nitin SahiNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-0403-916X
Lukas HaiderNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Karen ChungNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Ferran Prados CarrascoNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-7872-0142
Baris KanberNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Rebecca SamsonNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Alan J ThompsonNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Claudia A M Gandini Wheeler-KingshottNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
S Anand TripNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Wallace BrownleeNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Olga CiccarelliNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Frederik BarkhofNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Carmen TurNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen's Square House, Queen's Square, London, WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-2866-7777
Declan ChardNMR Research Unit, Queen Square Multiple Sclerosis Centre, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Queen Mary University of London · GBNational Hospital for Neurology and Neurosurgery · GBUniversitat Oberta de Catalunya · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple sclerosis risk has a well-established polygenic component, yet the genetic contribution to disease course and severity remains unclear and difficult to examine. Accurately measuring disease progression requires long-term study of clinical and radiological outcomes with sufficient follow-up duration to confidently confirm disability accrual and multiple sclerosis phenotypes. In this retrospective study, we explore genetic influences on long-term disease course and severity; in a unique cohort of clinically isolated syndrome patients with homogenous 30-year disease duration, deep clinical phenotyping and advanced MRI metrics. Sixty-one clinically isolated syndrome patients [41 female (67%): 20 male (33%)] underwent clinical and MRI assessment at baseline, 1-, 5-, 10-, 14-, 20- and 30-year follow-up (mean age ± standard deviation: 60.9 ± 6.5 years). After 30 years, 29 patients developed relapsing-remitting multiple sclerosis, 15 developed secondary progressive multiple sclerosis and 17 still had a clinically isolated syndrome. Twenty-seven genes were investigated for associations with clinical outcomes [including disease course and Expanded Disability Status Scale (EDSS)] and brain MRI (including white matter lesions, cortical lesions, and brain tissue volumes) at the 30-year follow-up. Genetic associations with changes in EDSS, relapses, white matter lesions and brain atrophy (third ventricular and medullary measurements) over 30 years were assessed using mixed-effects models.

Indexed as

disease progressiongeneticsmultiple sclerosisphenotypeseverity

Identifiers

PMID37841069
PMCPMC10576246
OpenAlexW4387298907

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.