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The Potential Role of PTPN-22 C1858T Gene Polymorphism in the Pathogenesis of Type 1 Diabetes in Saudi Population |
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| Authors: | Khaled A Alswat Amre Nasr Mohammed S Al Dubayee Iman M Talaat Adnan A Alsulaimani Imad AA Mohamed |
| Institution: | 1. Department of Internal Medicine, College of Medicine, Taif University, Taif, Saudi Arabia;2. Diabetic Center, Prince Mansour Military Community Hospital, Taif, Saudi Arabia;3. King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia;4. King Abdullah International Medical Research Center KAIMRC, Riyadh, Saudi Arabia;5. King Abdulaziz Medical City, Saudi Arabia;6. Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt;7. Diabetic Center, Prince Mansour Military Community Hospital, Taif, Saudi Arabia;8. Department of Pediatrics, College of Medicine, Taif University, Taif, Saudi Arabia;9. Department of Microbiology, Faculty of Veterinary Medicine, Zagazig University, Sharkia, Egypt;10. Department of Microbiology and Immunology, College of Medicine, Taif University, Taif, Saudi Arabia |
| 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 |