Association of Protein Tyrosine Phosphatase 1B (PTPN1) Gene Polymorphisms (1023C>A and 467T>C) With Type 2 Diabetes: A Case-Control Study
|Amal MH Mackawy1*, Entisar Abd-Alfarag Ahmed2 and Mohammed EH Badawy3|
|1Faculty of Medicine, Zagazig University, Medical Laboratory Department, Qassim University, Saudi Arabia|
|2Om durman Islamic univ, Sudan, Medical Laboratory department, Qassim University, Saudi Arabia|
|3Faculty of Medicine, Zagazig University and King Fahd Specialist Hospital, Qassim KSA, Saudi Arabia|
|Corresponding Author :||Amal MH Mackawy
Assisstant Professor of Medical Biochemistry, Faculty of Medicine
Zagazig University and Assistant Professor of Medical Biochemistry
Medical Laboratory department Qassim University
E-mail: [email protected], [email protected]
|Received November 25, 2015; Accepted December 31, 2015; Published January 05, 2016|
|Citation: Mackawy AMH, Abd-Alfarag Ahmed E, Badawy MEH (2016) Association of Protein Tyrosine Phosphatase 1B (PTPN1) Gene Polymorphisms (1023C>A and 467T>C) With Type 2 Diabetes: A Case-Control Study. J Clin Med Genomics 3:135. doi:10.4172/2472-128X.1000135|
|Copyright: © 2016 Mackawy AMH, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.|
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Background: Type 2 diabetes (T2D) is a heterogeneous disorder that results from a combination of environmental and genetic factors. Insulin resistance (IR) is the core defect in T2D. The molecular mechanisms underlying IR are poorly understood. Protein tyrosine kinases and Protein tyrosine phosphatase 1B (PTPN1) are important regulators of insulin signal transduction. The association of PTPN1single-nucleotide polymorphisms (SNPs) with traits related to T2D has been investigated. The aim of this study was to determine the association of 1023C>A and 467T>C gene polymorphisms with Type 2 diabetes and its related metabolic traits.
Method: Polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) analyses were carried out to detect the 1023C>A and 467T>C variants of PTPN1 gene in 100 Egyptian patients with T2D as compared to controls (n=80).
Results: The 1023C>A PTPN1genotype was significantly associated with T2DM (X2=7.816, P=0.02). The C allele was more frequent in the T2DM as compared to controls (p=0.001), odds ratio (OR) and 95% CI= 0.282 (0.131-0.606). We did not observe any significant difference in 467T>C PTPN1 genotypes between patients and control groups (X2=2.205, P=0.332). 1023C>A and 467T>C PTPN1 variants showed non-significant association with diabetic metabolic traits in both groups; plasma insulin levels, fasting blood glucose levels (FBG), HOMA-IR, the lipid profile parameters , diastolic blood pressure (DBP), systolic blood pressure (SBP), Waist circumference (WC) and body mass index (BMI).
Conclusion: The PTPN1 promoter variant 1023C>A was associated with presence of T2D, but it had no correlation with any of neither metabolic traits nor obesity in this study but we could not detect any association between 467T>C variants of PTPN1 gene with T2D Egyptian patients nor related traits in this study. Further studies must be done on a larger population to detect any potential metabolic association.