Dayani Sepideh Borhan, Asgarbeik Saeedeh, Asadi Mojgan, Amoli Mahsa M
Personalized Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
J Diabetes Metab Disord. 2022 Jan 25;21(1):333-338. doi: 10.1007/s40200-022-00978-5. eCollection 2022 Jun.
Personal medicine is a new notion for individualizing treatment in the future. Studying pathogenic markers including genetic variants would be beneficial in better diagnosis and management of complex diseases such as diabetes and obesity. Adenosine deaminase (ADA) is a purine metabolic enzyme and modulates insulin activity in various tissues through several different mechanisms. Increased ADA activity is associated with decreased glucose uptake. A significant increase in serum deaminase activity has been reported in patients with T2DM and obesity. ADA gene polymorphisms seem to affect ADA enzymatic activity and a polymorphism at the position 4223 in the first intron of ADA gene (ADA 4223 A/C) has been previously associated with obesity. The aim of this study was to explore ADA gene 4223 A/C polymorphism and its association with obesity in patients with Type 2 diabetes.
Obese patients ( = 133: 64 diabetic +69 non-diabetic) with BMI ≥ 30 and subjects with BMI < 30 ( = 152: 83 diabetics +69 non-diabetic) were recruited into a case-control association study. Blood samples were collected and after DNA extraction, the allele and genotype frequency for ADA gene polymorphism was determined using PCR-RFLP technique.
We observed a significant increase for the frequency of AA+CA genotype in non-obese patients with diabetes compared to obese patients with diabetes ( = 0.04, OR = 2.1, 95%CI; 0.93-4.9).
The higher frequency of AA+CA genotype in none obese diabetes individuals and lower frequency of this genotype in obese diabetes subjects indicates an important role for ADA gene polymorphism in diabetes subjects without obesity.
个性化医疗是未来实现治疗个体化的一个新观念。研究包括基因变异在内的致病标志物将有助于更好地诊断和管理糖尿病及肥胖症等复杂疾病。腺苷脱氨酶（ADA）是一种嘌呤代谢酶，可通过多种不同机制调节各种组织中的胰岛素活性。ADA活性增加与葡萄糖摄取减少有关。据报道，2型糖尿病（T2DM）患者和肥胖症患者的血清脱氨酶活性显著升高。ADA基因多态性似乎会影响ADA酶活性，并且ADA基因第一个内含子中第4223位的多态性（ADA 4223 A/C）此前已被证实与肥胖症有关。本研究的目的是探讨ADA基因4223 A/C多态性及其与2型糖尿病患者肥胖症的关联。
将BMI≥30的肥胖患者（n = 133：64例糖尿病患者+69例非糖尿病患者）和BMI<30的受试者（n = 152：83例糖尿病患者+69例非糖尿病患者）纳入病例对照关联研究。采集血样，提取DNA后，使用PCR-RFLP技术测定ADA基因多态性的等位基因和基因型频率。
我们观察到，与糖尿病肥胖患者相比，非肥胖糖尿病患者中AA + CA基因型的频率显著增加（P = 0.04，OR = 2.1，95%CI；0.93 - 4.9）。
非肥胖糖尿病个体中AA + CA基因型的频率较高，而肥胖糖尿病受试者中该基因型的频率较低，这表明ADA基因多态性在非肥胖糖尿病受试者中起重要作用。
