All polymorphisms studied in this paper [PMID: 20453841] , total : 7 polymorphisms

Title : A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.
Abstract : Rheumatoid arthritis is a common autoimmune disease with a complex genetic etiology. Here, through a genome-wide association study of rheumatoid arthritis, we identified a polymorphism in CCR6, the gene encoding chemokine (C-C motif) receptor 6 (a surface marker for Th17 cells) at 6q27, that was associated with rheumatoid arthritis susceptibility and was validated in two independent replication cohorts from Japan (rs3093024, a total of 7,069 individuals with rheumatoid arthritis (cases) and 20,727 controls, overall odds ratio = 1.19, P = 7.7 x 10(-19)). We identified a triallelic dinucleotide polymorphism of CCR6 (CCR6DNP) in strong linkage disequilibrium with rs3093024 that showed effects on gene transcription. The CCR6DNP genotype was correlated with the expression level of CCR6 and was associated with the presence of interleukin-17 (IL-17) in the sera of subjects with rheumatoid arthritis. Moreover, CCR6DNP was associated with susceptibility to Graves' and Crohn's diseases. These results suggest that CCR6 is critically involved in IL-17-driven autoimmunity in human diseases.
Author : Kochi Y,Okada Y,Suzuki A,Ikari K,Terao C,Takahashi A,Yamazaki K,Hosono N,Myouzen K,Tsunoda T,Kamatani N,Furuichi T,Ikegawa S,Ohmura K,Mimori T,Matsuda F,Iwamoto T,Momohara S,Yamanaka H,Yamada R,Kubo M,Nakamura Y,Yamamoto K,
Source : Nat Genet. 2010 Jun;42(6):515-9. doi: 10.1038/ng.583. Epub 2010 May 9.
7 records 1/1 page
No.Polymorphism nameGene SymbolEntrez Gene ID
1 rs3093024 CCR6 1235
2 rs13192471 NA NA
3 rs4394137 NA NA
4 rs2233434 NFKBIE 4794
5 rs723184 NA NA
6 rs10168266 STAT4 6775
7 rs1750734 CELF2 10659
7 records 1/1 page
CopyRight © Group of Statistical Genetics, College of Bioinformatics Science and Technology, Harbin Medical University, China