Genetic association of PTPN22 polymorphisms with Type 1 diabetes in Pakistani children

Abstract

Objective: Type 1 diabetes, a multigenic autoimmune disorder, is caused by the destruction of pancreatic beta-cells leads to insufficient insulin production and hyperglycemia, resulting in early morbidities and mortality. This study was designed to explore the genetic association of PTPN22 gene polymorphisms with T1D susceptibility among Pakistani children. Methods: Blood samples of T1D patients were obtained from the Department of Diabetes and Endocrinology of Children Hospital & University of Child Health Sciences, Lahore. Genotyping of rs2476601, rs1310182, and rs1217414 of the PTPN22 gene was performed by Tetra ARMS-PCR assay. Statistically, binary logistic regression was applied to determine variation in genotype distribution and association of PTPN22 gene polymorphism with T1D. Results: Genetic analysis showed that the A allele of rs2476601 (OR = 0.53, 95 % CI = 0.31–0.90; P < 0.02) and T allele of rs1310182 was found to be risk allele for T1D development (OR = 0.51, 95 % CI = 0.36–0.76; P < 0.01) while the A allele of rs1217414 was a protective allele against T1D (OR = 1.19, 95 % CI = 0.80–1.77; P = 0.36). Genetic models revealed that GG genotypes of rs2476601 (OR = 2.01, 95 % CI = 1.13–3.58; P < 0.01), and AA genotypes of rs1310182 in the dominant model (OR = 1.83, 95 % CI = 1.03–3.24; P < 0.03) showed significant risk association with T1D. Conclusion: From the results, it is concluded that PTPN22 gene has a strong genetic association with SNP rs2476601 and rs1310182 with T1D in Pakistani children.

Keywords

• T1D
• PTPN22
• Polymorphism
• Variants
• SNP