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From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A
Department of Neurology, Oslo University Hospital, Ullevål, Oslo 0407, Norway
Department of Anatomy, Institute of Basic Medical Sciences, University of Oslo, Oslo 0317, Norway
Institute of Clinical Medicine, University of Oslo, Oslo 0450, Norway
* Author to whom correspondence should be addressed.
Received: 16 January 2013; in revised form: 5 February 2013 / Accepted: 15 February 2013 / Published: 25 February 2013
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.
Keywords: autoimmunity; multiple sclerosis; CLEC16A; SOCS1; DEXI; CIITA
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Berge, T.; Leikfoss, I.S.; Harbo, H.F. From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A. Int. J. Mol. Sci. 2013, 14, 4476-4497.
Berge T, Leikfoss IS, Harbo HF. From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A. International Journal of Molecular Sciences. 2013; 14(3):4476-4497.
Berge, Tone; Leikfoss, Ingvild S.; Harbo, Hanne F. 2013. "From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A." Int. J. Mol. Sci. 14, no. 3: 4476-4497.