ArticleBrain : a journal of neurology2026
Chromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci.
Anindita Ray, Ruth Chia, Memoona Rasheed, Ece Bayram, International MSA Genomics Consortium, Dennis W Dickson, Bryan J Traynor, J Raphael Gibbs, Clifton L Dalgard, Owen A Ross and 2 more
Abstract read
In one paragraphArticle in Brain : a journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 · The registryThe trial behind it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
12 authors.
Anindita RayNeurodegenerative Diseases Research Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
Ruth ChiaNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.ORCID 0000-0002-4709-7423 Memoona RasheedNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Ece BayramNeurodegenerative Diseases Research Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
International MSA Genomics Consortium
Bryan J TraynorNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
J Raphael GibbsComputational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Clifton L DalgardDepartment of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.ORCID 0000-0003-2025-8239 Henry HouldenNeuromuscular Diseases, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID 0000-0002-2866-7777 Sonja W ScholzNeurodegenerative Diseases Research Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.ORCID 0000-0002-6623-0429 Funding
Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4MStudies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5MRare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9MRare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6MGenome sequencing of Lewy Body Dementia and Frontotemporal Dementia: a public resource for the study of Alzheimers disease and related dementiasZIAAG000935 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2017 to 2025
$771kGenetic and Neuropathologic Underpinnings of Sex Differences in Lewy Body DementiasR00AG073453 · NIA · UNIVERSITY OF COLORADO DENVER · PI ECE BAYRAM · 2024 to 2026
$725kIntramural NIH HHS ZIA AG000935Intramural NIH HHS ZIA NS003154NHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL120393NIA NIH HHS R00 AG073453NIH HHS 1ZIAAG000935NIH HHS ZIANS003154U.S. Department of Health and Human Services
6 · The paper itselfAbstract
The human X chromosome accounts for ∼5% of the genome. Despite its size, the role of X-chromosomal variants in human diseases is not well understood, mainly due to its distinct inheritance pattern and the frequent omission of sex chromosomes from genome-wide association studies. This study used whole-genome sequencing data from 888 multiple system atrophy (MSA) cases and 7128 controls to perform an X-chromosome-wide common variant association study. Our analyses revealed two sex-differential risk loci: one located at Xq28, associated with increased risk for MSA in females [index variant: rs4898389, odds ratio (OR) = 1.69, 95% confidence interval (CI) = 1.40-2.03, P-value = 2.43 × 10⁻⁸], and another at Xp22.2 within the TBL1X gene, identified in males (index variant: rs6638956, OR = 1.48, 95%CI = 1.26-1.73, P-value = 9.92 × 10⁻⁷). In the Xq28 locus, colocalization analyses pointed to FAM3A and PLXNA3 as genes of interest. These findings emphasize the vital role of sex-differential genetic factors in the pathogenesis of MSA.
Indexed as
Chromosomes, Human, XGenetic Predisposition to DiseaseGenome-Wide Association StudyMultiple System AtrophySex CharacteristicsFemaleHumansMalePolymorphism, Single Nucleotidechromosome X-wide association studymultiple system atrophysex differencesX chromosomeXWAS
Identifiers
PMID41684229
PMCPMC13548872
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