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Updated: Jun 13, 2026
05:55
Quantification of Autoreactive Antibodies in Mice upon Experimental Autoimmune Encephalomyelitis
Published on: December 1, 2023
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
Serena Sanna1, Maristella Pitzalis, Magdalena Zoledziewska
1Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Monserrato, Italy.
Nature Genetics
|May 11, 2010
Summary
Genetic variants in the CBLB gene are associated with multiple sclerosis (MS). This finding was confirmed in a large cohort, highlighting CBLB
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system.
- The genetic underpinnings of MS are complex and involve numerous susceptibility loci.
Purpose of the Study:
- To identify genetic variants associated with multiple sclerosis in the Sardinian population.
- To investigate the role of the CBLB gene in MS pathogenesis.
Main Methods:
- Genome-wide association scan (GWAS) of approximately 6.6 million variants.
- Replication in a large cohort of Sardinian individuals with MS and controls.
Main Results:
- A significant association was found between CBLB gene variants and MS (rs9657904, P = 1.60 x 10(-10), OR = 1.40).
- CBLB encodes a negative regulator of adaptive immunity.
- Ortholog knockout mice are susceptible to experimental autoimmune encephalomyelitis, an MS model.
Conclusions:
- CBLB gene variants represent a novel genetic risk factor for multiple sclerosis.
- The findings suggest a role for CBLB in the regulation of immune responses relevant to MS pathogenesis.
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