Combination and haplotype effects of protein tyrosine phosphatase receptor type D gene polymorphisms on type 2 diabetes in a sample of Iranian population: A pilot study

PTPRD, or protein tyrosine phosphatase receptor type D, may impact the insulin signaling on its target cells. The function mechanism of PTPRD gene is not exactly clear. However, Genetic threating variants for type 2 diabetes; rs17584499(C/T) and rs649891(A/G) in PTPRD, have been recognized by a genome-wide association. This study sought to investigate whether gene PTPRD polymorphisms were associated with type 2 diabetes (T2D) in Southeast of Iran or not. This case-control study was conducted on a total of 207 individuals with T2D and on 211 controls without any metabolic disease using a random sampling technique. We genotyped the samples using amplification refractory mutation system (ARMS) method, for PTPRD rs17584499(C/T) and Tetra-ARMS, for PTPRD rs649891 (A/G) method. The findings indicated a significant relationship between rs17584499(C/T) in the codominant (CT vs. CC, p = 0.0075), dominant (p = 0.0044), overdominant (p = 0.018), and log-additive (p = 0.0021) models and rs649891(A/G) in the codominant1 (AG vs. AA, p = 0.012), codominant2 (GG vs. AA, p = 0.001), dominant (p = 0.0011), recessive (p = 0.0002), overdominant (p = 0.026), and log-additive (p = 0.0001)polymorphisms of PTPRD gene and T2D. The combination effect of CC/GG, CT/AG, CT/GG, and TT/AA genotypes of the rs17584499(C/T) and rs649891 (A/G) polymorphisms were associated with the risk of T2D. In addition, haplotype analysis revealed that TA, CG, and TG haplotype of the rs17584499(C/T) and rs649891(A/G) polymorphisms could increase the T2D risk nearly 1.79-fold, 2.2-fold, and 3.03-fold, respectively. In conclusion, rs17584499(C/T) and rs649891 (A/G) polymorphisms of PTPRD gene were strongly associated with T2D susceptibility in different models, combination, and haplotype.