rs974404

This is a intron variant variant in the PTPN22 gene.

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Research that mentions this SNP (1)

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Telomere structure and maintenance gene variants and risk of five cancer types
Meta-analysisN=136,308Sara Karami et al.(2016)· International Journal of Cancer

Meta-analysis of 204,993 SNPs in 22 telomere structure and maintenance genes identified 13 independent SNPs associated with colorectal, breast, prostate, ovarian, and lung cancer risk in 61,851 cases and 74,457 controls of European descent. Seven of these associations were novel findings. Notable findings include rs12655062 (positively associated with prostate cancer, inversely with colorectal/ovarian cancers), rs75316749 (positively associated with colorectal, breast, ovarian, and lung cancers), rs974404 and rs12144215 in DCLRE1B (inversely associated with prostate/lung and colorectal/breast/ovarian cancers respectively), rs34978822 in RTEL1 (inversely associated with prostate/lung cancers), and rs116895242 near POT1 (inversely associated with colorectal, ovarian, and lung cancers).

Traits studied:Aggressive prostate cancerBladder cancerBreast cancerChronic lymphatic leukemiaChronic lymphocytic leukemiaColorectal cancerEndometrial cancerEndometrioid ovarian cancerEsophageal cancerEstrogen receptor negative breast cancerGastric cancerGlioblastomaGliomaGraves diseaseHigh-grade gliomaLung adenocarcinomaLung cancerMelanomaMultiple myelomaNasopharyngeal cancerOsteosarcomaOvarian cancerPancreatic cancerProstate cancerRenal cancerRheumatoid arthritisSerous ovarian cancerSkin cancerSquamous lung cancerTesticular cancer
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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