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与年龄相关性黄斑变性发展相关的遗传因素。

Genetic factors associated with the development of age-related macular degeneration.

作者信息

Sergejeva Olga, Botov Roman, Liutkevičienė Rasa, Kriaučiūnienė Loresa

机构信息

Department of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.

Faculty of Medicine, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.

出版信息

Medicina (Kaunas). 2016;52(2):79-88. doi: 10.1016/j.medici.2016.02.004. Epub 2016 Mar 10.

Abstract

Age-related macular degeneration (AMD) affects the macula and is the leading cause of significant and irreversible central visual loss. It is the most common cause of visual loss in people aged more than 60 years. This disease affects 2.5 million individuals in Europe. AMD is caused by both environmental and genetic factors. Numerous risk factors have been reported, but the pathogenesis of AMD is complex and fairly understood. Age, female gender, obesity, race, education status, family history, hyperopia, iris color, cigarette smoking, previous cataract surgery, history of cardiovascular and cerebrovascular disease, diabetes, sunlight exposure and many other factors have been shown to be associated with AMD development. Scientific evidence shows that genes may play a role in the development of nearly 3 out of 4 cases of this devastating eye disease. The genes that have been shown to be associated with AMD are genes encoding complement system components such as CFH, C2, C3, CFB, and other.

摘要

年龄相关性黄斑变性(AMD)累及黄斑,是导致严重且不可逆的中心视力丧失的主要原因。它是60岁以上人群视力丧失的最常见原因。这种疾病在欧洲影响着250万人。AMD由环境和遗传因素共同引起。已报道了众多风险因素,但AMD的发病机制复杂,尚未完全明确。年龄、女性性别、肥胖、种族、教育状况、家族史、远视、虹膜颜色、吸烟、既往白内障手术、心脑血管疾病史、糖尿病、阳光暴露以及许多其他因素已被证明与AMD的发生有关。科学证据表明,在近四分之三的这种严重眼病病例中,基因可能发挥作用。已显示与AMD相关的基因是编码补体系统成分的基因,如CFH、C2、C3、CFB等。

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