Expression of JAZF1, ABCC8, KCNJ11and Notch2 genes and vitamin D receptor polymorphisms in type 2 diabetes, and their association with microvascular complications. (June 2017)

• Record Type: Journal Article
• Authors: Rasheed, Maha A.; Kantoush, Nagwa; Abd El-Ghaffar, Nagwa; Farouk, Hebatallah; Kamel, Solaf; Ibrahim, Alshaymaa Ahmed; Shalaby, Aliaa; Mahmoud, Eman; Raslan, Hala M.; Saleh, Omneya M.
• Is Part Of: Therapeutic advances in endocrinology and metabolism. Volume 8:Number 6(2017)
• Page Start: 97
• Page End: 108
• Publication Date: 2017-06
• Subjects: gene expression -- microvascular complications -- type 2 diabetes mellitus -- VDR -- vitamin D; Endocrine glands -- Diseases -- Treatment -- Periodicals; Metabolism -- Disorders -- Treatment -- Periodicals; Endocrine System Diseases -- therapy -- Periodicals; Metabolic Diseases -- therapy -- Periodicals; 616.4005
• DOI: 10.1177/2042018817708910
• Languages: English
• ISSNs: 2042-0188

Abstract

Background: We studied JAZF1, ABCC8, KCNJ11and Notch2 gene expression and vitamin D receptor (VDR) polymorphisms (Fok1 and Bsm1) in patients with type 2 diabetes mellitus (T2DM) and tried to find out their association with microvascular complications in these patients. Methods: The study was conducted on 180 patients (93 complicated and 87 noncomplicated) and 150 healthy subjects. Reverse-transcriptase polymerase chain reaction (RT-PCR) was used to assess gene expression and real-time PCR was used to detect VDR genotypes. Serum vitamin D was assessed using Elisa technique. Results: After adjustment for age, sex, body mass index and glycated hemoglobin, altered Notch2 gene expression was found between patients and controls and between complicated and noncomplicated cases ( p = 0.001 and 0.001, respectively) and ABCC8 gene expression showed significant difference between patients and controls only ( p = 0.003), while JAZF1and KCNJ11 expression showed no significant difference between the studied groups ( p = 0.3 and 0.4, respectively). Serum vitamin D level was decreased in patients compared with controls ( p = 0.001), while no difference was detected between complicated and noncomplicated cases ( p = 0.1). Our results revealed no significant difference in VDR Fok1 and Bsm1 genotype distributions ( p = 0.7 and 0.1, respectively) and allele frequencies ( p = 0.4 and 0.1, respectively) between patients and controls. Patients with complications showed increased frequencies of Fok1GG genotype and G allele, while patients without complications showed increased frequencies of AA, then AG Fok1 genotype and A allele ( p = 0.001 and 0.001, respectively). In addition, the frequencies of CC Bsm1 genotype and C allele were significantly higher among patients with complications, while frequencies of TT Bsm1 genotype and T allele were significantly higher among patients without complications ( p = 0.02 and 0.003, respectively). Conclusion: Altered expression of Notch2 and ABCC8 genes may play a role in the pathogenesis of T2DM. Altered expression of Notch2 and VDR polymorphisms may play a role in the development of microvascular complications in diabetic patients. These results may assist in early identification and management of diabetic complications.