rs12730735

This variant is located in the PTPN22 gene.

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Research that mentions this SNP (1)

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The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients
AssociationN=1,129Chinoy H. et al.(2008)· Arthritis & Rheumatism

Case-control study of 381 UK Caucasian idiopathic inflammatory myopathy (IIM) patients and 748 controls examining PTPN22 SNPs. The R620W variant (rs2476601) showed significant association with overall IIM (OR=1.8, p=0.00007) and particularly with polymyositis (OR=2.2, p=0.0001) and juvenile dermatomyositis (OR=2.1, p=0.0006). The association was independent of the HLA 8.1 haplotype.

Traits studied:Autoimmune thyroid diseaseCancer-associated myositisDermatomyositisIdiopathic inflammatory myopathyInterstitial lung diseaseJuvenile dermatomyositisMyositis with connective tissue disease overlapPolymyositisRheumatoid arthritisSystemic lupus erythematosusType 1 diabetes mellitus
PubMedDOIMetascience Observatory

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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