Walid Abu-Hassan Diala, Al-Bdour Muawyah D, El-Khateeb Mohammed
University of Jordan, School of Medicine, Department of Physiology and Biochemistry, Amman, Jordan.
University of Jordan, School of Medicine, Department of Ophthalmology, Amman, Jordan.
J Med Biochem. 2021 Jun 5;40(3):302-309. doi: 10.5937/jomb0-27885.
Angiotensin-converting enzyme (ACE) stimulates angiogenesis that leads to the development of diabetic retinopathy (DR). Alu repetitive elements in ACE gene increase the expression of this enzyme. We investigated the frequency of Alu repetitive elements, insertion/deletion (I/D) polymorphism, in angiotensin-converting enzyme among diabetic retinopathy patients and whether this polymorphism is associated with the severity of retinopathy in Jordanians with type 2 diabetes.
A total of 277 subjects participated in this case/ control study (100 diabetic patients without DR, 82 diabetic patients with DR, and 95 healthy control). Blood samples were withdrawn, followed by DNA extraction. Alu repetitive elements were examined by polymerase chain reaction followed by gel electrophoresis.
The genotype and allele frequencies among diabetic patients, were close to healthy controls (genotypes, II 44.4 vs. 44.7%, ID 44.4 vs. 42.6%, DD 12.2 vs. 12.8%, P = 0.402 and 0.677 respectively, alleles, I 65.6 vs. 66%, D 34.4 vs. 34%, P=0.863). Complicated diabetics with retinopathy showed similar genotype and allele frequency to those without complications. The severity of diabetic retinopathy in affected individuals was not correlated with I/D polymorphism (P=0.862).
We conclude that the presence of Alu repetitive elements did not increase the development or progression risk to retinopathy in Jordanian type 2 diabetic patients. No association between I or D alleles with the severity of DR was detected.
血管紧张素转换酶(ACE)刺激血管生成,进而导致糖尿病视网膜病变(DR)的发生。ACE基因中的Alu重复元件会增加该酶的表达。我们研究了糖尿病视网膜病变患者血管紧张素转换酶中Alu重复元件的频率、插入/缺失(I/D)多态性,以及这种多态性是否与约旦2型糖尿病患者视网膜病变的严重程度相关。
共有277名受试者参与了这项病例对照研究(100名无DR的糖尿病患者、82名有DR的糖尿病患者和95名健康对照)。采集血样,随后进行DNA提取。通过聚合酶链反应和凝胶电泳检测Alu重复元件。
糖尿病患者的基因型和等位基因频率与健康对照接近(基因型,II分别为44.4%对44.7%,ID分别为44.4%对42.6%,DD分别为12.2%对12.8%,P = 0.402和0.677;等位基因,I分别为65.6%对66%,D分别为34.4%对34%,P = 0.863)。患有视网膜病变的复杂糖尿病患者的基因型和等位基因频率与无并发症患者相似。受影响个体的糖尿病视网膜病变严重程度与I/D多态性无关(P = 0.862)。
我们得出结论,Alu重复元件的存在不会增加约旦2型糖尿病患者发生视网膜病变或其进展的风险。未检测到I或D等位基因与DR严重程度之间存在关联。