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首页> 外文期刊>Therapeutic advances in endocrinology and metabolism. >Expression of JAZF1, ABCC8, KCNJ11and Notch2 genes and vitamin D receptor polymorphisms in type 2 diabetes, and their association with microvascular complications
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Expression of JAZF1, ABCC8, KCNJ11and Notch2 genes and vitamin D receptor polymorphisms in type 2 diabetes, and their association with microvascular complications

机译：JAZF1，ABCC8，KCNJ11和Notch2基因在2型糖尿病中的表达及其与维生素D受体的多态性及其与微血管并发症的关系

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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. 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. 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). 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.
机译：我们研究了2型糖尿病（T2DM）患者的JAZF1，ABCC8，KCNJ11和Notch2基因表达和维生素D受体（VDR）多态性（Fok1和Bsm1），并试图找出它们与这些患者的微血管并发症的关系。该研究针对180例患者（93例复杂和87例非复杂）和150例健康受试者进行。逆转录聚合酶链反应（RT-PCR）用于评估基因表达，实时PCR用于检测VDR基因型。使用Elisa技术评估血清维生素D。调整年龄，性别，体重指数和糖化血红蛋白后，发现Notch2基因表达在患者和对照组之间以及复杂和非复杂病例之间发生了改变（分别为p = 0.001和0.001），并且ABCC8基因表达在患者和对照组之间显示出显着差异仅（p = 0.003），而JAZF1和KCNJ11的表达在研究组之间没有显着差异（分别为p = 0.3和0.4）。与对照组相比，患者的血清维生素D水平降低（p = 0.001），而在复杂和非复杂病例之间未发现差异（p = 0.1）。我们的结果显示，患者和对照组之间的VDR Fok1和Bsm1基因型分布（分别为p = 0.7和0.1）和等​​位基因频率（分别为p = 0.4和0.1）没有显着差异。有并发症的患者显示Fok1GG基因型和G等位基因的频率增加，而没有并发症的患者显示AA，AG Fok1基因型和A等位基因的频率增加（分别为0.001和0.001）。此外，有并发症的患者中CC Bsm1基因型和C等位基因的频率显着升高，而无并发症的患者中TT Bsm1基因型和T等位基因的频率显着更高（分别为p = 0.02和0.003）。 Notch2和ABCC8基因表达的改变可能在T2DM的发病机制中起作用。 Notch2和VDR多态性的改变表达可能在糖尿病患者微血管并发症的发生中起作用。这些结果可能有助于早期识别和处理糖尿病并发症。

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