Evidence map›Paper›PMID 40991630›Full record

ArticleMultiple sclerosis (Houndmills, Basingstoke, England)2025

Differential results of genetic risk scoring for multiple sclerosis in European and African American populations.

Cyprien A Rivier, Leqi Xu, Santiago Clocchiatti-Tuozzo, Hongyu Zhao, Lucila Ohno-Machado, David A Hafler, Guido J Falcone, Erin E Longbrake

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Multiple sclerosis (Houndmills, Basingstoke, England), 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

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

8 authors.

Cyprien A RivierDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA; Yale Center for Brain and Mind Health, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-1148-1829
Leqi XuDepartment of Biostatistics, Yale University, New Haven, CT, USA.
Santiago Clocchiatti-TuozzoDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA; Yale Center for Brain and Mind Health, Yale School of Medicine, New Haven, CT, USA.
Hongyu ZhaoDepartment of Biostatistics, Yale University, New Haven, CT, USA.
Lucila Ohno-MachadoDepartment of Biomedical Informatics and Data Science, Yale School of Medicine, New Haven, CT, USA.
David A HaflerDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA; Department of Immunobiology, Yale School of Medicine, New Haven, CT, USA.
Guido J FalconeDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA; Yale Center for Brain and Mind Health, Yale School of Medicine, New Haven, CT, USA.
Erin E LongbrakeDepartment of Neurology, Yale School of Medicine, New Haven, CT, USA.

Funding

Yale Study Support Suite (YES3): Dashboard and Web Portal Software Supporting Research Workflow through integrated, customizable REDCap External ModulesP30AG021342 · NIA · YALE UNIVERSITY · PI Lauren Ferrante · 2002 to 2026
$37.9M
Ocular Image Study for All of Us at Yale and UCSDOT2OD037644 · OD · YALE UNIVERSITY · PI ALEXANDER D BOROWSKY, Marc T Goodman · 2024 to 2026
$21.4M
Genetic & Social Determinants of Health: Center for Admixture Science and TechnologyRM1HG011558 · NHGRI · YALE UNIVERSITY · PI FRAZER, KELLY A, GYMREK, MELISSA · 2021 to 2025
$11.2M
Yale Training Program in Geriatric Clinical Epidemiology and Aging-Related ResearchT32AG019134 · NIA · YALE UNIVERSITY · PI Terri R. Fried · 2001 to 2026
$7.5M
Interactions between Gut Microbiome and B-Cell Depletion in Multiple SclerosisK23NS107624 · NINDS · YALE UNIVERSITY · PI LONGBRAKE, ERIN · 2019 to 2023
$980k
American Heart Association-American Stroke Association 24RSSPOST1328228NHGRI NIH HHS RM1 HG011558NIA NIH HHS P30 AG021342NIA NIH HHS T32 AG019134NIH HHS OT2 OD037644NINDS NIH HHS K23 NS107624
6 · The paper itself

Abstract

backgroundGenetic risk scores (GRSs) for multiple sclerosis (MS) help identify high-risk individuals and stratify populations for clinical trials, but most are derived from European populations, raising questions about GRS accuracy in other ancestries.

objectivesWe aimed to determine whether an MS GRS can stratify individuals of African and Latino/admixed ancestry and assess whether the JointPRS tool enhances GRS portability in African ancestry.

methodsIn this cross-sectional study using All of Us (2018-2022), we derived a GRS from 232 variants for 32,428 European, 32,428 African, and 32,428 Latino/admixed participants, each divided into quintiles. The outcome was MS ascertained through International Classification of Diseases (ICD)-9/10 and Systematized Nomenclature of Medicine (SNOMED) codes. JointPRS was used to improve GRS portability in the African-ancestry group.

resultsMS prevalence was 1.0% in European, 0.56% in African, and 0.46% in Latino/admixed participants. The GRS stratified MS risk effectively in European (odds ratio (OR) = 2.30 (1.60-3.36); DISCUSSION: A GRS for MS stratified European and Latino/admixed individuals but not African ancestry. Incorporating African-specific data enhanced performance, underscoring the need for more ancestry-tailored GRS.

Indexed as

Black or African AmericanGenetic Predisposition to DiseaseMultiple SclerosisWhiteAdultCross-Sectional StudiesFemaleHispanic or LatinoHumansMaleMiddle AgedRisk AssessmentUnited Statesepidemiologygenetic ancestrygenetic risk scoreGenetics

Identifiers

PMID40991630
PMCPMC12633797

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.