Abbasi Farzaneh, Soltani Samaneh, Saghazadeh Amene, Soltaninejad Ehsan, Rezaei Arezou, Zare Bidoki Alireza, Bahrami Tayyeb, Amirzargar Ali Akbar, Rezaei Nima
a Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
b Molecular Immunology Research Center, Children's Medical Center, Tehran University of Medical Sciences , Tehran , Iran.
Immunol Invest. 2017 May;46(4):409-418. doi: 10.1080/08820139.2017.1288239. Epub 2017 Apr 4.
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.
The present study was aimed at genotyping of an Iranian population for five polymorphisms of the PTPN22 gene.
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.
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.
The PTPN22 rs2476601 minor allele (A) was associated with T1D in Iran, accounting for its pathophysiology in autoimmune diseases.
蛋白酪氨酸磷酸酶非受体型22（PTPN22）在调节免疫系统各种细胞的功能中起关键作用，尤其是T细胞。PTPN22基因的多态性与许多自身免疫性疾病相关，包括1型糖尿病（T1D），这是一种T细胞介导的疾病。
本研究旨在对伊朗人群的PTPN22基因的五个多态性进行基因分型。
研究人群包括99例T1D患者和100例健康对照。我们对PTPN22基因的五个单核苷酸多态性（SNP）（rs12760457、rs1310182、rs1217414、rs33996649和rs2476601）进行基因分型。
关于rs2476601变体，与对照组相比，T1D患者中AG和GG基因型分别增加和减少。此外，发现该SNP的G和A等位基因在T1D患者中分别减少和增加（p值 = 0.001）。然而，T1D组和对照组在其他研究的SNP的基因型分布或等位基因频率上没有差异。
PTPN22 rs2476601次要等位基因（A）与伊朗的T1D相关，这解释了其在自身免疫性疾病中的病理生理学。
