rs3761935
This is a downstream gene variant variant in the PTPN22 gene.
▶Research that mentions this SNP (1)
▶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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