The Potential Role of PTPN-22 C1858T Gene Polymorphism in the Pathogenesis of Type 1 Diabetes in Saudi Population

ABSTRACT

Background: Recent investigations have reported an association between protein tyrosine phosphatase non-receptor type-22 (PTPN-22) gene polymorphism and susceptibility to the development of type 1 diabetes (T1D) in some populations and not in others. In this study, we aimed to investigate the association of PTPN-22 C1858T polymorphism with T1D in Saudi children.

Methods: A cohort of 372 type 1 diabetic children and 372 diabetes-free subjects was enrolled in the current investigation. The PTPN-22 C1858T polymorphism was identified using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

Results: Our data showed that the frequency of CT and TT genotypes of PTPN-22 C1858T was higher in T1D children (17.7% and 4.3%, respectively) compared to healthy controls (4.8% and 1.6%, respectively), and both genotypes were statistically associated with T1D patients (OR = 4.4, 95% CI: 2.55–7.58, p < 0.001; and OR = 3.2, 95% CI: 1.23–8.28, p = 0.017, respectively). Moreover, the 1858T allele was significantly associated with T1D patients compared to the C allele (OR = 3.2, 95% CI: 1.59–6.88, p < 0.001). In addition, the T allele was significantly associated with elevated levels of HbA1c, anti-GAD, and anti-insulin antibodies (p < 0.001) and a lower concentration of C-peptide (p < 0.001) in T1D children.

Conclusion: The data presented here suggests that the T allele of PTPN-22 C1858T polymorphism might be a risk factor for T1D development in Saudi children.

KEYWORDS:

• PTPN-22 gene polymorphism
• Saudi population
• Type 1 Diabetes

Acknowledgments

This work was financially supported by research grant from the Scientific Research Deanship at Taif University, Kingdom of Saudi Arabia (Number: 1-437-4871). We are grateful to Dr. Anhar Hamza, Medical Protocol Department at King Abdulaziz Medical City, NGHA, for the contribution in improving the science and the language of the manuscript.

Declaration of interest

The authors declare no conflict of interest.

Additional information

Funding

This work was supported by the Scientific Research Deanship at Taif University, Kingdom of Saudi Arabia [1-437-4871].