SNPs in the PTPN22 gene have been linked to autoimmune diseases.
- The 1858C>T SNP rs2476601 in the PTPN22 gene was found to be associated with (1) juvenile idiopathic arthritis (OR=1.41; P=0.04), (2) an increased risk for rheumatoid arthritis (OR=1.58; P=0.001), and (3) with a slight tendency towards an association with celiac disease (OR=1.35; P=0.08). [PMID 15759012]
- This same SNP, rs2476601, has also been reported to potentially reduce the risk of having Behcet's disease. [PMID 17660222]
- This SNP has also been associated with type-1 diabetes.[PMID 17934143]