All polymorphisms studied in this paper [PMID: 21965649] , total : 1 polymorphisms

Title : Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in the 1p13.2 region.

Abstract : OBJECTIVE: The PTPN22 rs2476601 genetic variant has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. Some reports suggest that this single-nucleotide polymorphism (SNP) may not be the only causal variant in the region of PTPN22. Our aim was to identify new independent RA-associated common gene variants in the PTPN22 region. METHODS: We analyzed Wellcome Trust Case-Control Consortium genome-wide association study data for associations in the 397.2 kb PTPN22 region and selected 9 associated SNP (with p < 5 x 10(-3)) for replication and dependence analysis. The replication cohorts comprised 2857 patients with RA and 2994 controls from Spain, Netherlands, and Norway. RESULTS: We found that 6 of the 9 selected SNP were associated in the Spanish cohort. Of these, 4 were also associated in the Dutch and Norwegian cohorts, and all 6 were associated with RA in the combined analysis. Conditional analyses showed that none of these associations was independent of rs2476601. CONCLUSION: The SNP rs2476601 located in the PTPN22 gene is the sole common genetic variant associated with RA in the 1p13.2 region, suggesting that neighbor genes of PTPN22 do not have a major influence in RA.

Author : Martin JE,Alizadeh BZ,Gonzalez-Gay MA,Balsa A,Pascual-Salcedo D,Gonzalez-Escribano MF,Rodriguez-Rodriguez L,Fernandez-Gutierrez B,Raya E,Coenen MJ,van Riel P,Radstake TR,Kvien TK,Viken MK,Lie BA,Koeleman BP,Martin J,

Source : J Rheumatol. 2011 Nov;38(11):2290-6. doi: 10.3899/jrheum.110361. Epub 2011 Oct 1.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs2476601	PTPN22	26191