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PTPN22 Single-Nucleotide Polymorphisms in Iranian Patients with Type 1 Diabetes Mellitus |
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| Authors: | Farzaneh Abbasi Samaneh Soltani Amene Saghazadeh Ehsan Soltaninejad Arezou Rezaei Alireza Zare Bidoki |
| Institution: | 1. Growth and Development Research Center, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran;2. Molecular Immunology Research Center, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran;3. Department of Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran;4. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran |
| 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. |
| Keywords: | PTPN22 single-nucleotide polymorphisms type 1 diabetes |