AI Article Synopsis
- - PTPN22 is important for immune regulation, especially in T cells, and is linked to autoimmune diseases like type 1 diabetes (T1D).
- - The study analyzed 99 T1D patients and 100 healthy individuals to look for five specific polymorphisms in the PTPN22 gene.
- - The variant rs2476601 showed a significant association with T1D, where the A allele was more common in T1D patients, suggesting its role in the disease's development.
Article 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.
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| http://dx.doi.org/10.1080/08820139.2017.1288239 | DOI Listing |
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