PTPN - 22 C1858T基因多态性在沙特人群1型糖尿病发病机制中的潜在作用

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

作者信息

Alswat Khaled A, Nasr Amre, Al Dubayee Mohammed S, Talaat Iman M, Alsulaimani Adnan A, Mohamed Imad A A, Allam Gamal

机构信息

a Department of Internal Medicine , College of Medicine, Taif University , Taif , Saudi Arabia.

b Diabetic Center , Prince Mansour Military Community Hospital , Taif , Saudi Arabia.

出版信息

Immunol Invest. 2018 Jul;47(5):521-533. doi: 10.1080/08820139.2018.1458109. Epub 2018 Apr 3.

DOI:10.1080/08820139.2018.1458109

PMID:29611765

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.

摘要

背景

最近的研究报告称，蛋白酪氨酸磷酸酶非受体22型（PTPN - 22）基因多态性与1型糖尿病（T1D）发病易感性在某些人群中存在关联，而在其他人群中则不然。在本研究中，我们旨在调查沙特儿童中PTPN - 22 C1858T多态性与T1D的关联。

方法

本研究纳入了372名1型糖尿病儿童和372名无糖尿病受试者。采用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）方法鉴定PTPN - 22 C1858T多态性。

结果

我们的数据显示，与健康对照组（分别为4.8%和1.6%）相比，T1D儿童中PTPN - 22 C1858T的CT和TT基因型频率更高（分别为17.7%和4.3%），且这两种基因型均与T1D患者存在统计学关联（OR = 4.4，95% CI：2.55 - 7.58，p < 0.001；OR = 3.2，95% CI：1.23 - 8.28，p = 0.017）。此外，与C等位基因相比，1858T等位基因与T1D患者显著相关（OR = 3.2，95% CI：1.59 - 6.88，p < 0.001）。另外，T等位基因与T1D儿童中较高水平的糖化血红蛋白、抗谷氨酸脱羧酶抗体和抗胰岛素抗体显著相关（p < 0.001），且与较低浓度的C肽显著相关（p < 0.001）。