ABSTRACT
Background: Single-nucleotide polymorphism [SNP] rs2476601 within protein tyrosine phosphatase non-receptor type 22 gene [PTPN22] has been shown to be a risk factor for different autoimmune diseases. This study explored the association of 1858 C/T SNP with rheumatoid arthritis [RA] and celiac disease [CD] in a region covering southwest of Iran
Methods: Totally, 52 patients with CD, 120 patients with RA, and 120 healthy subjects were selected. The samples were genotyped for the rs2476601 in PTPN22 gene using the tetra-amplification refractory mutation system polymerase chain reaction
Results: The frequency of +1858T risk allele was significantly increased in both RA [P=0.021, OR=2.56, 95%CI=1.19-5.47] and CD [P=0.002, OR=3.87, 95%CI=1.68-8.95] patients, as compared to the control group. However, no association was found between the +1858C/T PTPN22 gene SNP and the anticyclic citrullinated peptide and rheumatoid factor positivity in RA patients
Conclusions: PTPN22 gene could play a crucial role in people's susceptibility to certain autoimmune diseases