rs1217407
This is a intron variant variant in the PTPN22 gene.
▶Research that mentions this SNP (2)
▶Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome‐wide association analysisAssociationN=3,260Anne Hinks et al.(2009)· Arthritis & Rheumatism
A genome-wide association study (GWAS) identified novel genetic susceptibility loci for juvenile idiopathic arthritis (JIA) in a discovery cohort of 279 cases and 184 controls, followed by validation in 321 cases and 2,024 controls. The most strongly associated SNP (rs2187684) mapped to the HLA region (OR 0.61, p=0.00006), and fine-mapping identified 10 SNPs in the VTCN1 gene associated with JIA, with rs2358820 showing the second strongest association (OR 0.45, p=0.003).
▶Genetic risk factors for rheumatoid arthritis differ in caucasian and Korean populationsAssociationN=2,131Hye‐Soon Lee et al.(2009)· Arthritis & Rheumatism
A case-control study of 1,123 Korean rheumatoid arthritis patients and 1,008 controls found that genetic variants at PTPN22, TRAF1/C5, 6q23, 4q27, CD40, and CCL21 previously associated with Caucasian RA were not associated with Korean RA. The PADI4 variant rs2240340 showed strong association (p=1.15×10⁻⁸, OR=1.43), demonstrating substantial genetic heterogeneity between ethnic populations.
About PTPN22
This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
View all PTPN22 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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