Petrovič Mojca Globočnik, Hawlina Marko, Peterlin Borut, Petrovič Daniel
Eye Clinic, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
J Hum Genet. 2003;48(9):457-460. doi: 10.1007/s10038-003-0060-0. Epub 2003 Aug 23.
Platelets are thought to be involved in the pathogenesis of diabetic retinopathy. The BglII gene polymorphism of the alpha2beta1 integrin, which is a platelet collagen receptor, has been suggested as a genetic risk factor for diabetic retinopathy in Japanese subjects. The aim of this study was to look for a relationship between the BglII gene polymorphism of the alpha2beta1 integrin gene and the development of diabetic retinopathy in Caucasians with type 2 diabetes. Subjects with type 2 diabetes and diabetic retinopathy (n=163) were compared with diabetic subjects without diabetic retinopathy (n=95). A significantly higher frequency of the BglII (+/+) genotype of the gene polymorphism of the alpha2beta1 integrin gene was found in patients with diabetic retinopathy compared with patients without diabetic retinopathy (19.6% vs 7.4%; P=0.008). The present study demonstrates that the BglII (+/+) genotype of the gene polymorphism of the alpha2beta1 integrin gene is an independent risk factor (odds ratio: 2.4, 95% confidence interval 1.0-6.0; P<0.05) for diabetic retinopathy in Caucasians with type 2 diabetes.
血小板被认为与糖尿病视网膜病变的发病机制有关。α2β1整合素的BglII基因多态性，α2β1整合素是一种血小板胶原受体，已被认为是日本人群中糖尿病视网膜病变的遗传危险因素。本研究的目的是寻找α2β1整合素基因的BglII基因多态性与2型糖尿病白种人糖尿病视网膜病变发生之间的关系。将患有2型糖尿病和糖尿病视网膜病变的受试者（n = 163）与无糖尿病视网膜病变的糖尿病受试者（n = 95）进行比较。与无糖尿病视网膜病变的患者相比，糖尿病视网膜病变患者中α2β1整合素基因多态性的BglII（+/+）基因型频率显著更高（19.6%对7.4%；P = 0.008）。本研究表明，α2β1整合素基因多态性的BglII（+/+）基因型是2型糖尿病白种人糖尿病视网膜病变的独立危险因素（比值比：2.4，95%置信区间1.0 - 6.0；P < 0.05）。
