A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy-Reference-Cited by-同舟云学术

A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy

Published:2023-10-18 Issue:6 Volume:94 Page:1080-1085
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Gasperi Christiane¹^ORCID,Wiltgen Tun¹²^ORCID,McGinnis Julian¹²³^ORCID,Cerri Stefano⁴^ORCID,Moridi Thomas⁵⁶^ORCID,Ouellette Russell⁵⁷^ORCID,Pukaj Albert¹,Voon Cuici¹²^ORCID,Bafligil Cemsel¹^ORCID,Lauerer Markus¹²^ORCID,Andlauer Till F. M.¹^ORCID,Held Friederike¹,Aly Lilian¹^ORCID,Shchetynsky Klementy⁵,Stridh Pernilla⁵^ORCID,Harroud Adil⁸⁹^ORCID,Wiestler Benedikt¹⁰^ORCID,Kirschke Jan S.¹⁰^ORCID,Zimmer Claus¹⁰^ORCID,Baras Aris¹¹^ORCID,Piehl Fredrik⁵^ORCID,Berthele Achim¹^ORCID,Granberg Tobias⁵⁷^ORCID,Kockum Ingrid⁵⁶^ORCID,Hemmer Bernhard¹¹²^ORCID,Mühlau Mark¹²^ORCID

Affiliation:

1. Department of Neurology, School of Medicine Technical University of Munich Munich Germany

2. TUM‐Neuroimaging Center, School of Medicine Technical University of Munich Munich Germany

3. Institute for AI in Medicine Technical University of Munich Munich Germany

4. Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School Boston Massachusetts USA

5. Department of Clinical Neuroscience Karolinska Institute Stockholm Sweden

6. Center for Molecular Medicine Karolinska University Hospital Stockholm Sweden

7. Department of Neuroradiology Karolinska University Hospital Stockholm Sweden

8. Department of Neurology and Neurosurgery and Department of Human Genetics McGill University Montréal Quebec Canada

9. The Neuro (Montreal Neurological Institute and Hospital), McGill University Montréal Quebec Canada

10. Department of Neuroradiology, School of Medicine Technical University of Munich Munich Germany

11. Regeneron Genetics Center Regeneron Pharmaceuticals Inc Tarrytown New York USA

12. Munich Cluster for Systems Neurology (SyNergy) Munich Germany

Abstract

The minor allele of the genetic variant rs10191329 in the DYSF‐ZNF638 locus is associated with unfavorable long‐term clinical outcomes in multiple sclerosis patients. We investigated if rs10191329 is associated with brain atrophy measured by magnetic resonance imaging in a discovery cohort of 748 and a replication cohort of 360 people with relapsing multiple sclerosis. We observed an association with 28% more brain atrophy per rs10191329*A allele. Our results encourage stratification for rs10191329 in clinical trials. Unraveling the underlying mechanisms may enhance our understanding of pathophysiology and identify treatment targets. ANN NEUROL 2023;94:1080–1085

Funder

HORIZON EUROPE European Innovation Council

Deutsche Forschungsgemeinschaft

NIH Clinical Center

Bayerisches Staatsministerium für Bildung und Kultus, Wissenschaft und Kunst

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26807

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