Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
Open accessAbstract
A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10), OR = 1.40). CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis.
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By 2011, common variants in 26 genomic loci had been associated with multiple sclerosis risk and independently replicated.
“by 2011, common variants in 26 genomic loci had been associated with MS risk and independently replicated”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [42]
The paper’s Abstract describes multiple MS susceptibility loci and reports confirmation of previously described markers at known non-HLA loci. It does not state that common variants at 26 loci had been associated with MS and independently replicated by 2011; its detailed follow-up concerns a CBLB variant. (LLM, conf=0.82)
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- Authors
- Sanna, S., Pitzalis, M., Zoledziewska, M., Zara, I., Sidore, C., Murru, R., Whalen, M. B., Busonero, F., Maschio, A., Costa, G., Melis, M. C., Deidda, F., Poddie, F., Morelli, L., Farina, G., Li, Y., Dei, M., Lai, S., Mulas, A., Cuccuru, G., Porcu, E., Liang, L., Zavattari, P., Moi, L., Deriu, E., Urru, M. F., Bajorek, M., Satta, M. A., Cocco, E., Ferrigno, P., Sotgiu, S., Pugliatti, M., Traccis, S., Angius, A., Melis, M., Rosati, G., Abecasis, G. R., Uda, M., Marrosu, M. G., Schlessinger, D., & Cucca, F.
- Affiliations
- Institute of Genetic and Biomedical Research (IT)
- University of Sassari (IT)
- Center for Advanced Studies Research and Development in Sardinia (IT)
- University of Cagliari (IT)
- University of North Carolina at Chapel Hill (US)
- Harvard University (US)
- Azienda Ospedaliera G. Brotzu (IT)
- Azienda Sanitaria Locale N. 2 Savonese (IT)
- Presidio Ospedaliero (IT)
- University of Michigan (US)
- National Institute on Aging (US)
- Corresponding author
- Cucca, Francesco
- ORCID
- Sanna, Serena
- Pitzalis, Maristella
- Sidore, Carlo
- Murru, Raffaele
- Whalen, Michael B
- Busonero, Fabio
- Maschio, Andrea
- Deidda, Francesca
- Poddie, Fausto
- Farina, Gabriele
- Li, Yun
- Dei, Mariano
- Lai, Sandra
- Mulas, Antonella
- Cuccuru, Gianmauro
- Porcu, Eleonora
- Liang, Liming
- Zavattari, Patrizia
- Cocco, Eleonora
- Sotgiu, Stefano
- Pugliatti, Maura
- Angius, Andrea
- Melis, Maurizio
- Rosati, Giulio
- Abecasis, Gonçalo R
- Uda, Manuela
- Marrosu, Maria Giovanna
- Schlessinger, David
- Cucca, Francesco
- Venue
- Nature Genetics
- Published
- 2010-05-09
- Volume
- 42
- Issue
- 6
- Pages
- 495-497
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3786343
- OpenAlex
- W2116797609
- Cited by
- 187
- References
- 2
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 2 · 2023: 4 · 2022: 12 · 2021: 15 · 2020: 6 · 2019: 9 · 2018: 10 · 2017: 6 · 2016: 7 · 2015: 17 · 2014: 18 · 2013: 18 · 2012: 26
- FWCI
- 16.72
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion)
- UnissResearch (Università degli Studi di Sassari) (submittedVersion)
- Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion)
- UNC Libraries
- Funders
- Fondazione Italiana Sclerosi Multipla
- Ministero dell’Istruzione, dell’Università e della Ricerca (2007KXNKNP)
- National Institutes of Health (NO1-AG-1–2109, n01ag12109-11-0-0)
- National Institute on Aging (N01-AG-12109, NO1-AG-1-2109, N01 AG012109)
- National Institute of Mental Health (MH084698, R01MH084698)
- National Human Genome Research Institute (HG005214, R01HG002651, U01HG005214, HG002651)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › 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, genome-wide association study, genetic susceptibility, immune regulation, adaptive immune response, experimental autoimmune encephalomyelitis, Sardinian population
- MeSH terms
- Humans, Major Histocompatibility Complex, Multiple Sclerosis, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Adaptor Proteins, Signal Transducing, Proto-Oncogene Proteins c-cbl, Genome-Wide Association Study
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