Cited by 45Multiple Sclerosis Research StudiesGenetic Associations and EpidemiologyPsoriasis: Treatment and Pathogenesis

From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A

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Berge, Tone, Leikfoss, Ingvild, Harbo, Hanne·2013·International Journal of Molecular Sciences

Abstract

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.”

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  1. [88]Cummings R.D. McEver R.P. C-Type Lectins Essentials of Glycobiology 2nd ed Varki A. Cummings R.D. Esko J.D. Freeze H.H. Stanley P. Bertozzi C.R. Hart G.W. Etzler M.E. Cold Spring Harbor New York, NY, USA 2009 20301239
  2. [94]National Center for Biotechnology Information Available online: http://www.ncbi.nlm.nih.gov accessed on 15 December 2012

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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)
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
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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