Bego Tamer, Čaušević Adlija, Dujić Tanja, Malenica Maja, Velija-Asimi Zelija, Prnjavorac Besim, Marc Janja, Nekvindová Jana, Palička Vladimír, Semiz Sabina
Department of Biochemistry and Clinical Analysis, Faculty of Pharmacy, University of Sarajevo, Sarajevo, Bosnia and Herzegovina.
Clinics for Endocrinology, Diabetes and Metabolism Diseases, University Clinical Centre of Sarajevo, Sarajevo, Bosnia and Herzegovina.
J Med Biochem. 2019 Mar 3;38(2):153-163. doi: 10.2478/jomb-2018-0023. eCollection 2019 Apr.
, a gene recently discovered in genomewide associated studies for type 2 diabetes mellitus (T2D), play an important role in the management of energy homeostasis, nucleic acid demethylation and regulation of body fat mass by lipolysis. The aim of this study was to analyze the association of rs8050136 A>C genetic variant with clinical and biochemical parameters of T2D in the population of West Balkan region (Bosnians and Herzegovinians and Kosovars).
The study included 638 patients with T2D and prediabetes and 360 healthy controls of both genders, aged from 40 to 65 years. Patients were recruited at the Clinical Centre University of Sarajevo, University Hospital of Clinical Centre in Banja Luka, General Hospital in Tešanj and Health Centre in Prizren. Genotyping of analyzed polymorphism rs8050136 A>C was performed by qPCR allelic discrimination.
Genotype frequencies of the analyzed polymorphism were comparable between patients with T2D, prediabetic patients, and healthy population. Logistic regression analyses didn't show significant association of rs8050136 A allele with increased risk of T2D. However, risk A allele was significantly associated with higher levels of HbA1c, insulin, HOMA-IR index, diastolic blood pressure, and inflammatory markers (fibrinogen and leukocytes) as well as showed tendency of association with increased values of obesity markers (BMI, waist and hip circumference).
Results of our study showed a significant association of genetic variant rs8050136 A>C with the major markers of insulin resistance, obesity and inflammation, opening new avenues for solving many unclear questions in the pathogenesis of T2D.
是最近在2型糖尿病(T2D)全基因组关联研究中发现的一个基因,在能量稳态管理、核酸去甲基化以及通过脂解调节体脂量方面发挥重要作用。本研究旨在分析rs8050136 A>C基因变异与西巴尔干地区(波斯尼亚人和黑塞哥维那人和科索沃人)人群中T2D临床和生化参数的关联。
本研究纳入了638例患有T2D和糖尿病前期的患者以及360例年龄在40至65岁之间的健康对照者,男女均有。患者分别在萨拉热窝大学临床中心、巴尼亚卢卡临床中心大学医院、泰沙尼综合医院和普里兹伦健康中心招募。通过qPCR等位基因鉴别对分析的多态性rs8050136 A>C进行基因分型。
分析的多态性的基因型频率在T2D患者、糖尿病前期患者和健康人群之间具有可比性。逻辑回归分析未显示rs8050136 A等位基因与T2D风险增加之间存在显著关联。然而,风险A等位基因与较高水平的糖化血红蛋白、胰岛素、HOMA-IR指数、舒张压和炎症标志物(纤维蛋白原和白细胞)显著相关,并且显示出与肥胖标志物(BMI、腰围和臀围)值增加相关的趋势。
我们的研究结果显示基因变异rs8050136 A>C与胰岛素抵抗、肥胖和炎症的主要标志物之间存在显著关联,为解决T2D发病机制中许多不明问题开辟了新途径。