rs3765598

This is a upstream gene variant variant in the PTPN22 gene.

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Research that mentions this SNP (2)

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Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans
AssociationN=413Hye‐Soon Lee et al.(2011)· Diabetes/Metabolism Research and Reviews

Cross-sectional study of 413 Chinese children investigating the relationship between excessive fluoride exposure (measured by dental fluorosis) and thyroid health, with the moderating role of TSHR rs2268458 and PTPN22 rs3765598 polymorphisms. Children with dental fluorosis showed lower FT4 (p<0.05), lower TGAb levels (p<0.05), reduced thyroid volume (p<0.05), and higher TPOAb levels (p<0.05). In TSHR rs2268458 CC+CT or PTPN22 rs3765598 CC subgroups, dental fluorosis increased risk of thyroid antibody single positive (OR=4.34, 95% CI 1.10-17.10; OR=5.40, 95% CI 1.85-15.81 respectively). In TSHR rs2268458 TT or PTPN22 rs3765598 CC carriers, dental fluorosis was protective against goiter (OR=0.09, 95% CI 0.01-0.67; OR=0.15, 95% CI 0.03-0.67 respectively).

Traits studied:Dental fluorosisFree thyroxine (FT4)GoiterSubclinical hypothyroidismThyroglobulin antibody (TGAb)Thyroid antibody positiveThyroid peroxidase antibody (TPOAb)Thyroid volume
PubMedDOIMetascience Observatory
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Genetic risk factors for rheumatoid arthritis differ in caucasian and Korean populations
AssociationN=2,131Hye‐Soon Lee et al.(2009)· Arthritis &amp; 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.

Traits studied:Rheumatoid arthritis
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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