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C-type lectin domain family 16, member A

This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] (from NCBI)
Top mentioned proteins: MDA5, SET, erbB-3, CIITA, CTLA-4
Papers on CLEC16A
Hypomethylation within gene promoter regions and type 1 diabetes in discordant monozygotic twins.
Noble et al., Berkeley, United States. In J Autoimmun, Feb 2016
Initial results showed modest methylation differences between discordant MZ twins for the MHC region and T1D-associated CpG sites, BACH2, INS-IGF2, and CLEC16A (DNAm difference range: 2.2%-5.0%).
Contribution of Rare and Common Genetic Variants to Plasma Lipid Levels and Carotid Stiffness and Geometry: A Substudy of the Paris Prospective Study 3.
Lacolley et al., Nancy, France. In Circ Cardiovasc Genet, Aug 2015
A significant association was observed between the common rs2903692 polymorphism of the CLEC16A gene and the internal diameter (P<4.3×10(-7)).
The Autoimmunity-Associated Gene CLEC16A Modulates Thymic Epithelial Cell Autophagy and Alters T Cell Selection.
Kissler et al., Boston, United States. In Immunity, Jun 2015
CLEC16A variation has been associated with multiple immune-mediated diseases, including type 1 diabetes, multiple sclerosis, systemic lupus erythematosus, celiac disease, Crohn's disease, Addison's disease, primary biliary cirrhosis, rheumatoid arthritis, juvenile idiopathic arthritis, and alopecia areata.
GWAS-identified multiple sclerosis risk loci involved in immune response: validation in Russians.
Favorova et al., Moscow, Russia. In J Neuroimmunol, Jun 2015
Associations of CLEC16A and IL2RA with MS were validated.
Systemic Lupus Erythematosus Patients Exhibit Reduced Expression of CLEC16A Isoforms in Peripheral Leukocytes.
Chan et al., Hong Kong, Hong Kong. In Int J Mol Sci, 2014
The SLE susceptibility locus on chromosome 16p13 encodes a novel gene CLEC16A and its functional relationship with SLE is unclear.
Multiple Sclerosis Risk Allele in CLEC16A Acts as an Expression Quantitative Trait Locus for CLEC16A and SOCS1 in CD4+ T Cells.
Berge et al., Oslo, Norway. In Plos One, 2014
For multiple sclerosis, genome wide association studies and follow up studies have identified susceptibility single nucleotide polymorphisms located in or near CLEC16A at chromosome 16p13.13,
IgA deficiency and autoimmunity.
Gershwin et al., Davis, United States. In Autoimmun Rev, 2014
Non-MHC genetic associations include IFIH1 and CLEC16A.
Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance.
Betz et al., Bonn, Germany. In J Invest Dermatol, 2012
Genome-wide significant association was found for rs20541 and rs998592, thus establishing IL-13 and KIAA0350/CLEC16A as susceptibility loci for alopecia areata. IL-13 and KIAA0350/CLEC16A are also susceptibility loci for other autoimmune diseases.
Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.
Siminovitch et al., Toronto, Canada. In Genes Immun, 2012
Fine mapping identified 26 single-nucleotide polymorphisms (SNPs) across the CLEC16A-SOCS1 and 11 SNPs across the SPIB locus with significant association to primary biliary cirrhosis.
Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex.
Haines et al., Nashville, United States. In Hum Mol Genet, 2011
Data show independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex in multiple sclerosis susceptibility.
More CLEC16A gene variants associated with multiple sclerosis.
Weber et al., München, Germany. In Acta Neurol Scand, 2011
A significant association with multiple sclerosis is found for four single nucleotide polymorphisms within the CLEC16A gene, all located in the same linkage disequilibrium (LD) block.
Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus.
Harbo et al., Oslo, Norway. In Genes Immun, 2011
Expression analysis revealed that rs12708716 genotype was significantly associated with the relative expression levels of two different CLEC16A transcripts in thymus (P=0.004)
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Anderson et al., Cambridge, United Kingdom. In Nat Genet, 2011
New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A and NFKB1.
Selective IgA deficiency in autoimmune diseases.
Hammarström et al., Huddinge, Sweden. In Mol Med, 2010
In addition, non-MHC genes, such as interferon-induced helicase 1 (IFIH1) and c-type lectin domain family 16, member A (CLEC16A), are also associated with the development of IgAD and some of the above diseases.
The genetics of multiple sclerosis: an update 2010.
Akkad et al., Bochum, Germany. In Mol Cell Probes, 2010
Studies indicate that SNP in IL7RA, IL2RA, CD58 and CLEC16A genes has been consistently associated with MS.
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
Hammarström et al., San Francisco, United States. In Nat Genet, 2010
Variants in CLEC16A, another known autoimmunity locus, showed suggestive evidence for association (rs6498142C>G, P = 1.8 x 10(-7)), and 29 additional loci were identified with P < 5 x 10(-5).
Multiple common variants for celiac disease influencing immune gene expression.
van Heel et al., London, United Kingdom. In Nat Genet, 2010
Variants from 13 new regions reached genome-wide significance (P(combined) < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection.
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
Graham et al., In Nat Genet, 2009
A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P < 1 x 10(-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3.
Pathogenesis of primary adrenal insufficiency.
Løvås et al., Bergen, Norway. In Best Pract Res Clin Endocrinol Metab, 2009
In addition, other genes also implicated in other autoimmune diseases are linked to Addison's disease, such as cytotoxic T lymphocyte antigen 4 (CTLA-4), protein tyrosine phosphatase non-receptor type 22 (PTPN22), major histocompatibility complex class II transactivator (CIITA), and most recently the C-lectin type gene (CLEC16A).
[Molecular genetics of type 1 diabetes mellitus: achievements and future trends].
Seregin et al., In Mol Biol (mosk), 2008
To date the several loci involved to the T1DM development have been reliably identified by means of a number of approaches: MHC locus, VNTR within 5'-nontranscibed region of insulin (INS) gene, CTLA4 gene, encoding surface receptor of T cells, PTPN22 and PTPN2 genes, encoding tyrosine phosphatases of T lymphocytes, interleukin 2 (IL2) gene and alpha-chain of its receptor gene (IL2RA), as well as KIAA0350 gene (unknown function) and IFIH1 gene, encoding receptor of double-stranded DNA generated during viral infections.
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