rs10946216
This is a intron variant variant in the CCR6 gene.
▶Research that mentions this SNP (2)
▶Reduction of CD83 Expression on B Cells and the Genetic Basis for Rheumatoid Arthritis: Comment on the Article by Thalayasingam et alFunctionalN=16Yumi Tsuchida et al.(2018)· Arthritis & Rheumatology
This functional study integrates epigenomic datasets (ATAC-seq, Hi-C, ChIP-seq, RNA-seq) from fibroblast-like synoviocytes (FLS) to map the functional relevance of 101 fine-mapped rheumatoid arthritis GWAS associations. FLS regulatory elements account for 24% of RA heritability, and the study assigns putative target genes to RA risk loci, identifying TNFAIP3, IFNAR1, CDK6, RBPJ and others as disease-relevant genes. TNF stimulation reveals dynamic chromatin interactions and differential gene expression at RA-associated regulatory regions.
▶Brief Report: A Regulatory Variant in CCR6 Is Associated With Susceptibility to Antitopoisomerase‐Positive Systemic SclerosisAssociationN=9,495Eugénie Koumakis et al.(2013)· Arthritis & Rheumatism
This meta-analysis of 2,411 systemic sclerosis (SSc) patients and 7,084 healthy controls from three European populations (France, Italy, Germany) identifies CCR6 as a new susceptibility locus for anti-topoisomerase positive SSc. The rs3093023 SNP in CCR6 shows significant association with SSc ATA+ patients (OR=1.27, p=6.6×10⁻⁵ in combined analysis; OR=1.32, p=4.1×10⁻⁶ for rs10946216). The study confirms sharing of autoimmune risk alleles between SSc and rheumatoid arthritis and suggests a role for the IL17 pathway in SSc pathogenesis.
About CCR6
This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
View all CCR6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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