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Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
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OBJECTIVE: We investigated the association between 52 risk variants identified through genome-wide association studies and disease severity in multiple sclerosis (MS). METHODS: Ten unique MS case data sets were analyzed. The Multiple Sclerosis Severity Score (MSSS) was calculated using the Expanded Disability Status Scale at study entry and disease duration. MSSS was considered as a continuous variable and as 2 dichotomous variables (median and extreme ends; MSSS of ≤5 vs >5 and MSSS of <2.5 vs ≥7.5, respectively). Single nucleotide polymorphisms (SNPs) were examined individually and as both combined weighted genetic risk score (wGRS) and unweighted genetic risk score (GRS) for association with disease severity. Random-effects meta-analyses were conducted and adjusted for cohort, sex, age at onset, and HLA-DRB1*15:01. RESULTS: A total of 7,125 MS cases were analyzed. The wGRS and GRS were not strongly associated with disease severity after accounting for cohort, sex, age at onset, and HLA-DRB1*15:01. After restricting analyses to cases with disease duration ≥10 years, associations were null (p value ≥0.05). No SNP was associated with disease severity after adjusting for multiple testing. CONCLUSIONS: The largest meta-analysis of established MS genetic risk variants and disease severity, to date, was performed. Results suggest that the investigated MS genetic risk variants are not associated with MSSS, even after controlling for potential confounders. Further research in large cohorts is needed to identify genetic determinants of disease severity using sensitive clinical and MRI measures, which are critical to understanding disease mechanisms and guiding development of effective treatments.
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“Although these risk variants have been found to reduce the age at onset5, it is notable that they do not appear to have any impact on disease severity6.”
From Locus for severity implicates CNS resilience in progression of multiple sclerosis (2023) · cites this paper as [6]
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Self-citation
Metadata
- Authors
- George, M. F., Briggs, F. B. S., Shao, X., Gianfrancesco, M. A., Kockum, I., Harbo, H. F., Celius, E. G., Bos, S. D., Hedström, A., Shen, L., Bernstein, A., Alfredsson, L., Hillert, J., Olsson, T., Patsopoulos, N. A., De Jager, P. L., Oturai, A. B., Søndergaard, H. B., Sellebjerg, F., Sorensen, P. S., Gomez, R., Caillier, S. J., Cree, B. A. C., Oksenberg, J. R., Hauser, S. L., D'Alfonso, S., Leone, M. A., Boneschi, F. M., Sorosina, M., van der Mei, I., Taylor, B. V., Zhou, Y., Schaefer, C., & Barcellos, L. F.
- Affiliations
- Author affiliations are listed at the end of the article.
- Corresponding author
- Barcellos, Lisa F.
- ORCID
- George, Michaela F.
- Briggs, Farren B.S.
- Gianfrancesco, Milena A.
- Kockum, Ingrid
- Harbo, Hanne F.
- Celius, Elisabeth G.
- Bos, Steffan D.
- Hedström, Anna
- Bernstein, Allan
- Alfredsson, Lars
- Hillert, Jan
- Olsson, Tomas
- Patsopoulos, Nikolaos A.
- Søndergaard, Helle B.
- Sellebjerg, Finn
- Gomez, Refujia
- Caillier, Stacy J.
- Cree, Bruce A.C.
- Oksenberg, Jorge R.
- Hauser, Stephen L.
- Leone, Maurizio A.
- Boneschi, Filippo Martinelli
- Sorosina, Melissa
- van der Mei, Ingrid
- Taylor, Bruce V.
- Zhou, Yuan
- Schaefer, Catherine
- Barcellos, Lisa F.
- Venue
- Neurology Genetics
- Published
- 2016-08
- Volume
- 2
- Issue
- 4
- Pages
- e87-e87
- ISSN
- 2376-7839 (ISSN-L)
- PMC
- PMC4974846
- OpenAlex
- W2476223773
- Cited by
- 86
- References
- 41
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 6 · 2023: 3 · 2022: 14 · 2021: 8 · 2020: 12 · 2019: 10 · 2018: 12 · 2017: 8 · 2016: 2
- FWCI
- 9.70
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- Neurology Genetics (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by-nc-nd)
- eCite Digital Repository (University of Tasmania) (submittedVersion, cc-by-nc-nd)
- Dominican Scholar (Dominican University of California) (submittedVersion, cc-by-nc-nd)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
- Figshare (submittedVersion, cc-by-nc-nd)
- Funders
- U.S. Environmental Protection Agency
- National Multiple Sclerosis Society
- Harvard NeuroDiscovery Center
- Intel Corporation
- Eli Lilly and Company
- Pfizer
- AstraZeneca
- GlaxoSmithKline
- Sanofi
- Biogen
- Teva Pharmaceutical Industries
- Strategiske Forskningsråd
- Scleroseforeningen
- Sundhed og Sygdom, Det Frie Forskningsråd
- Association of Fraternity/Sorority Advisors Foundation
- Acorda Therapeutics
- Multiple Sclerosis Society
- European Commission
- Multiple Sclerosis Australia
- AFA Försäkring
- Fondazione Cariplo (2010-0728)
- Ministero della Salute
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Karolinska Institutet
- Novo Nordisk
- Vetenskapsrådet
- Universitetet i Oslo
- Norges Forskningsråd
- A.P. Møller og Hustru Chastine Mc-Kinney Møllers Fond til almene Formaal
- H. Lundbeck A/S
- National Institutes of Health
- Genentech
- EMD Serono
- University of California, San Francisco
- Medical Research Council
- Australian Research Council
- National Health and Medical Research Council
- Strategic Research Council
- National Institute of Mental Health
- National Cancer Institute
- National Institute of Allergy and Infectious Diseases (R01AI076544)
- National Institute of Neurological Disorders and Stroke (R01NS026799, R01NS049510, R01NS049477)
- National Institute of Environmental Health Sciences (R01ES017080)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
- Keywords
- multiple sclerosis, disease severity, genetic risk variants, Multiple Sclerosis Severity Score, Expanded Disability Status Scale, polygenic risk score, single nucleotide polymorphisms, HLA-DRB1*1501, disease duration
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