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

Christiane Gasperi; Tun Wiltgen; Julian McGinnis; Stefano Cerri; Thomas Moridi; Russell Ouellette; Albert Pukaj; Cuici Voon; Cemsel Bafligil; Markus Lauerer; Till F.M. Andlauer; Friederike Held; Lilian Aly; Klementy Shchetynsky; Pernilla Stridh; Adil Harroud; Benedikt Wiestler; Jan S. Kirschke; Claus Zimmer; Aris Baras; Fredrik Piehl; Achim Berthele; Tobias Granberg; Ingrid Kockum; Bernhard Hemmer; Mark Mühlau

doi:10.1002/ana.26807

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

Christiane Gasperi, Tun Wiltgen, Julian McGinnis, Stefano Cerri, Thomas Moridi, Russell Ouellette, Albert Pukaj, Cuici Voon, Cemsel Bafligil, Markus Lauerer, Till F.M. Andlauer, Friederike Held, Lilian Aly, Klementy Shchetynsky, Pernilla Stridh, Adil Harroud, Benedikt Wiestler, Jan S. Kirschke, Claus Zimmer, Aris BarasFredrik Piehl, Achim Berthele, Tobias Granberg, Ingrid Kockum, Bernhard Hemmer, Mark Mühlau

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10 Scopus citations

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.

Original language	English
Pages (from-to)	1080-1085
Number of pages	6
Journal	Annals of Neurology
Volume	94
Issue number	6
DOIs	https://doi.org/10.1002/ana.26807
State	Published - Dec 2023

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Gasperi, C., Wiltgen, T., McGinnis, J., Cerri, S., Moridi, T., Ouellette, R., Pukaj, A., Voon, C., Bafligil, C., Lauerer, M., Andlauer, T. F. M., Held, F., Aly, L., Shchetynsky, K., Stridh, P., Harroud, A., Wiestler, B., Kirschke, J. S., Zimmer, C., ... Mühlau, M. (2023). A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy. Annals of Neurology, 94(6), 1080-1085. https://doi.org/10.1002/ana.26807

@article{5b5797419f3b4b8cbc863ec84ef0a273,

title = "A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy",

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.",

author = "Christiane Gasperi and Tun Wiltgen and Julian McGinnis and Stefano Cerri and Thomas Moridi and Russell Ouellette and Albert Pukaj and Cuici Voon and Cemsel Bafligil and Markus Lauerer and Andlauer, {Till F.M.} and Friederike Held and Lilian Aly and Klementy Shchetynsky and Pernilla Stridh and Adil Harroud and Benedikt Wiestler and Kirschke, {Jan S.} and Claus Zimmer and Aris Baras and Fredrik Piehl and Achim Berthele and Tobias Granberg and Ingrid Kockum and Bernhard Hemmer and Mark M{\"u}hlau",

note = "Publisher Copyright: {\textcopyright} 2023 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",

year = "2023",

month = dec,

doi = "10.1002/ana.26807",

language = "English",

volume = "94",

pages = "1080--1085",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley & Sons Inc.",

number = "6",

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Gasperi, C, Wiltgen, T, McGinnis, J, Cerri, S, Moridi, T, Ouellette, R, Pukaj, A, Voon, C, Bafligil, C, Lauerer, M, Andlauer, TFM, Held, F, Aly, L, Shchetynsky, K, Stridh, P, Harroud, A, Wiestler, B, Kirschke, JS , Zimmer, C, Baras, A, Piehl, F, Berthele, A, Granberg, T, Kockum, I, Hemmer, B & Mühlau, M 2023, 'A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy', Annals of Neurology, vol. 94, no. 6, pp. 1080-1085. https://doi.org/10.1002/ana.26807

TY - JOUR

T1 - A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy

AU - Gasperi, Christiane

AU - Wiltgen, Tun

AU - McGinnis, Julian

AU - Cerri, Stefano

AU - Moridi, Thomas

AU - Ouellette, Russell

AU - Pukaj, Albert

AU - Voon, Cuici

AU - Bafligil, Cemsel

AU - Lauerer, Markus

AU - Andlauer, Till F.M.

AU - Held, Friederike

AU - Aly, Lilian

AU - Shchetynsky, Klementy

AU - Stridh, Pernilla

AU - Harroud, Adil

AU - Wiestler, Benedikt

AU - Kirschke, Jan S.

AU - Zimmer, Claus

AU - Baras, Aris

AU - Piehl, Fredrik

AU - Berthele, Achim

AU - Granberg, Tobias

AU - Kockum, Ingrid

AU - Hemmer, Bernhard

AU - Mühlau, Mark

PY - 2023/12

Y1 - 2023/12

N2 - 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.

AB - 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.

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SN - 0364-5134

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SP - 1080

EP - 1085

JO - Annals of Neurology

JF - Annals of Neurology

IS - 6

ER -

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

Abstract

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