Department of Medicine, A. Gemelli University Hospital, Catholic University School of Medicine, Rome, Italy.
Hum Genet. 2013 Jan;132(1):49-55. doi: 10.1007/s00439-012-1224-9. Epub 2012 Sep 11.
Osteoprotegerin (OPG) is a secretory glycoprotein that belongs to the tumor necrosis factor receptor family and plays a role in atherosclerosis. The present study aimed to evaluate whether OPG gene (TNFRSF11B) polymorphisms are involved in ischemic stroke in an Italian population with diabetes. Participants in a retrospective case-control study included 364 diabetic patients (180 males, 184 females) with history of ischemic stroke and 492 diabetic subjects without history of ischemic stroke (252 males, 240 females). The T245G, T950C, and G1181C polymorphisms of the OPG gene were analyzed by polymerase chain reaction and restriction fragment length polymorphism. We found that the T245G, T950C, and G1181C gene polymorphisms of the OPG gene were significantly (34.1 vs. 9.5 %, P < 0.0001; 30.8 vs. 6.3 %, P < 0.0001 and 26.4 vs. 11.6 % P < 0.0001, respectively) and independently (adjusted OR 5.15 [3.46-7.68], OR 6.63 [4.26-10.31], and OR 3.03 [2.04-4.50], respectively) associated with history of ischemic stroke. We also found that these three polymorphisms act synergistically in patients with stroke history. The TNFRSF11B gene polymorphisms studied are associated with history of ischemic stroke and synergistic effects between these genotypes might be potential markers for cerebrovascular disorders.
骨保护素（OPG）是一种分泌性糖蛋白，属于肿瘤坏死因子受体家族，在动脉粥样硬化中发挥作用。本研究旨在评估 OPG 基因（TNFRSF11B）多态性是否与意大利糖尿病患者的缺血性卒中有关。在一项回顾性病例对照研究中，纳入了 364 例有缺血性卒中病史的糖尿病患者（180 名男性，184 名女性）和 492 例无缺血性卒中病史的糖尿病患者（252 名男性，240 名女性）。采用聚合酶链反应和限制性片段长度多态性分析 OPG 基因的 T245G、T950C 和 G1181C 多态性。我们发现，OPG 基因的 T245G、T950C 和 G1181C 基因多态性显著（34.1%比 9.5%，P<0.0001；30.8%比 6.3%，P<0.0001 和 26.4%比 11.6%，P<0.0001），且独立（调整后的 OR 分别为 5.15 [3.46-7.68]、6.63 [4.26-10.31]和 3.03 [2.04-4.50]）与缺血性卒中病史相关。我们还发现，这些三种多态性在有卒中病史的患者中存在协同作用。研究的 TNFRSF11B 基因多态性与缺血性卒中病史相关，这些基因型之间的协同作用可能是脑血管疾病的潜在标志物。
