De Polo L, Maltese P E, Rigoni E, Bertelli M, Cecchin S, Staurenghi G, Stoppa G
Department of Ophthalmology, Luigi Sacco University Hospital, Milan, Italy.
MAGI non-profit Human Medical Genetics Institute, Rovereto, Italy.
Genet Mol Res. 2015 Oct 27;14(4):13337-41. doi: 10.4238/2015.October.26.30.
In this study, we assessed the prevalence of polymorphisms in genes involved in hyperhomocysteinemia or hemostasis to shed light on their role, if any, in retinal vein occlusion (RVO). We recruited 37 Italian patients (17 men and 20 women) with a diagnosis of central or branch RVO based on fundus examination and retinal fluorescein angiography, as well as 45 healthy controls. Risk factors and family history of RVO of all subjects were recorded. The distributions of polymorphisms in patients and controls were evaluated using the χ(2) test and OR. We confirmed an increased risk in subjects with dyslipidemia (high density lipoprotein <59 mg/dL: 17.8% of controls, 43.2% of patients, P = 0.0002; low density lipoprotein >130 mg/dL: 26.7% controls, 54.1% patients, P = 0.0002), arterial hypertension (60% controls, 75.7% patients, P = 0.023), and high body mass index (28.9% controls, 70.3% patients, P < 0.0001, and excluded involvement of the selected polymorphisms in RVO. Overall, the tested polymorphisms did not appear to be useful for assessing predisposition or for the diagnosis and prognosis of RVO.
在本研究中，我们评估了参与高同型半胱氨酸血症或止血过程的基因多态性的患病率，以阐明它们在视网膜静脉阻塞（RVO）中（若有）所起的作用。我们招募了37名意大利患者（17名男性和20名女性），这些患者经眼底检查和视网膜荧光血管造影诊断为中央或分支RVO，以及45名健康对照者。记录了所有受试者的RVO危险因素和家族史。使用χ(2)检验和比值比评估患者和对照者中多态性的分布情况。我们证实血脂异常（高密度脂蛋白<59mg/dL：对照者中占17.8%，患者中占43.2%，P = 0.0002；低密度脂蛋白>130mg/dL：对照者中占26.7%，患者中占54.1%，P = 0.0002）、动脉高血压（对照者中占60%，患者中占75.7%，P = 0.023）以及高体重指数（对照者中占28.9%，患者中占70.3%，P < 0.0001）的受试者风险增加，且排除了所选多态性与RVO的关联。总体而言，所检测的多态性似乎无助于评估RVO的易感性或用于其诊断和预后判断。
