All polymorphisms studied in this paper [PMID: 17170052] , total : 11 polymorphisms

Title : Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK.

Abstract : OBJECTIVE: To investigate single-nucleotide polymorphisms (SNPs) across the PTPN22 gene region in a UK cohort of patients with rheumatoid arthritis (RA), to look for evidence of disease associations independent of the well-characterised R620W variant (rs2476601). METHODS: 951 RA cases in the UK satisfying American Rheumatism Association (ARA) criteria and 448 population controls were genotyped for 11 SNPs across the PTPN22 gene region using the Sequenom MassArray MassEXTEND technology. Allele, genotype and estimated haplotype frequencies of cases and controls were compared. RESULTS: In addition to the R620W (rs2476601) SNP, three SNPs were associated with RA in this study. The sole haplotype on which the associated T allele of R620W occurred was associated with RA; no other haplotypes showed a significant difference in frequencies between RA cases and controls. CONCLUSION: In contrast with a study of American patients with RA no evidence of association with PTPN22 independent of the well-characterised R620W variant was found, suggesting that in these patients this variant alone explains the association with the PTPN22 gene.

Author : Hinks A,Eyre S,Barton A,Thomson W,Worthington J,

Source : Ann Rheum Dis. 2007 May;66(5):683-6. Epub 2006 Dec 14.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs1217414	PTPN22	26191
2	rs2488458	PTPN22	26191
3	rs12760457	PTPN22	26191
4	rs11102685	PTPN22	26191
5	rs12730735	PTPN22	26191
6	rs2476601	PTPN22	26191
7	rs1310182	PTPN22	26191
8	rs1217388	PTPN22	26191
9	rs1217413	PTPN22	26191
10	rs3811021	PTPN22	26191
11	rs3789604	RSBN1	54665