All polymorphisms studied in this paper [PMID: 23028356] , total : 2 polymorphisms

Title : Functional variants in NFKBIE and RTKN2 involved in activation of the NF-kappaB pathway are associated with rheumatoid arthritis in Japanese.

Abstract : Rheumatoid arthritis is an autoimmune disease with a complex etiology, leading to inflammation of synovial tissue and joint destruction. Through a genome-wide association study (GWAS) and two replication studies in the Japanese population (7,907 cases and 35,362 controls), we identified two gene loci associated with rheumatoid arthritis susceptibility (NFKBIE at 6p21.1, rs2233434, odds ratio (OR) = 1.20, P = 1.3 x 10(-15); RTKN2 at 10q21.2, rs3125734, OR = 1.20, P = 4.6 x 10(-9)). In addition to two functional non-synonymous SNPs in NFKBIE, we identified candidate causal SNPs with regulatory potential in NFKBIE and RTKN2 gene regions by integrating in silico analysis using public genome databases and subsequent in vitro analysis. Both of these genes are known to regulate the NF-kappaB pathway, and the risk alleles of the genes were implicated in the enhancement of NF-kappaB activity in our analyses. These results suggest that the NF-kappaB pathway plays a role in pathogenesis and would be a rational target for treatment of rheumatoid arthritis.

Author : Myouzen K,Kochi Y,Okada Y,Terao C,Suzuki A,Ikari K,Tsunoda T,Takahashi A,Kubo M,Taniguchi A,Matsuda F,Ohmura K,Momohara S,Mimori T,Yamanaka H,Kamatani N,Yamada R,Nakamura Y,Yamamoto K,

Source : PLoS Genet. 2012 Sep;8(9):e1002949. doi: 10.1371/journal.pgen.1002949. Epub 2012 Sep 13.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs2233434	NFKBIE	4794
2	rs3125734	RTKN2	219790