From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A
Open accessAbstract
Multiple sclerosis (MS) is an inflammatory, demyelinating disorder of the central nervous system that develops in genetically susceptible individuals, probably triggered by common environmental factors. Human leukocyte antigen (HLA) loci were early shown to confer the strongest genetic associations in MS. Now, more than 50 non-HLA MS susceptibility loci are identified, of which the majority are located in immune-regulatory genes. Single nucleotide polymorphisms (SNPs) in the C-type lectin-like domain family 16A (CLEC16A) gene were among the first non-HLA genetic variants that were confirmed to be associated with MS. Fine-mapping has indicated a primary association in MS and also other autoimmune diseases to intronic CLEC16A SNPs. Here, we review the identification of MS susceptibility variants in the CLEC16A gene region, functional studies of the CLEC16A molecule and the recent progress in understanding the implications thereof for MS development. This may serve as an example of the importance for further molecular investigation of the loci identified in genetic studies, with the aim to translate this knowledge into the clinic.
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Alleles of the CLEC16A gene confer risk for autoimmune diseases including type 1 diabetes, multiple sclerosis, primary adrenal insufficiency, primary biliary cirrhosis, alopecia areata, juvenile idiopathic arthritis and rheumatoid arthritis.
“Genome-wide association studies (GWAS) demonstrate that alleles of the CLEC16A gene (also KIAA0350) confer risk for autoimmune diseases including type 1 diabetes, multiple sclerosis, primary adrenal insufficiency, primary biliary cirrhosis, alopecia areata, juvenile idiopathic arthritis and rheumatoid arthritis1234567.”
From Clec16a is Critical for Autolysosome Function and Purkinje Cell Survival (2016) · cites this paper as [1]
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On the Allelic Architecture of Multiple Sclerosis in Sardinia
Hadjixenofontos, A. (2014)
- Authors
- Berge, T., Leikfoss, I., & Harbo, H.
- Affiliations
- Oslo University Hospital (NO)
- Corresponding author
- Berge, Tone
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2013-02-25
- Volume
- 14
- Issue
- 3
- Pages
- 4476-4497
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC3634488
- OpenAlex
- W2091411865
- Cited by
- 45
- References
- 110
- Citations by year
- 2025: 5 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 4 · 2020: 6 · 2019: 3 · 2018: 3 · 2017: 3 · 2016: 5 · 2015: 8 · 2014: 2
- FWCI
- 3.75
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Biogen
- IC Design Education Center
- Universitetet i Oslo
- Norges Forskningsråd
- Helse Sør-Øst RHF
- 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, CLEC16A, genetic susceptibility, single nucleotide polymorphisms, fine mapping, C-type lectin-like domain, immunoregulatory genes, autoimmune disease, demyelination, HLA loci
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