Ptpn22 Single-Nucleotide Polymorphisms in Iranian Patients With Type 1 Diabetes Mellitus Publisher Pubmed



Abbasi F¹ ; Soltani S² ; Saghazadeh A² ; Soltaninejad E³ ; Rezaei A⁴ ; Zare Bidoki A² ; Bahrami T³ ; Amirzargar AA^{2, 5} ; Rezaei N^{4, 5, 6}
Source: Immunological Investigations Published:2017

Abstract

Background: PTPN22 plays a crucial role in regulating the function of various cells of the immune system, particularly T cells. Polymorphisms of the PTPN22 gene have been associated with many autoimmune diseases, including type 1 diabetes (T1D) which is a T-cell-mediated disease. Objective: The present study was aimed at genotyping of an Iranian population for five polymorphisms of the PTPN22 gene. Methods: The study population consisted of 99 T1D patients and 100 healthy controls. We genotyped five single-nucleotide polymorphisms (SNPs) (rs12760457, rs1310182, rs1217414, rs33996649, and rs2476601) of the PTPN22 gene. Results: Regarding the variant rs2476601, genotypes AG and GG were increased and decreased in T1D patients compared with controls, respectively. Further, alleles G and A of this SNP were found to be decreased and increased in T1D patients, respectively (p value = 0.001). However, T1D and control groups did not differ on genotype distribution or allele frequency for other investigated SNPs. Conclusions: The PTPN22 rs2476601 minor allele (A) was associated with T1D in Iran, accounting for its pathophysiology in autoimmune diseases. © 2017 Taylor & Francis.