Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Eye (Lond). 2011 May;25(5):587-95. doi: 10.1038/eye.2011.97.
A substantial fraction of glaucoma has a genetic basis. About 5% of primary open angle glaucoma (POAG) is currently attributed to single-gene or Mendelian forms of glaucoma (ie glaucoma caused by mutations in myocilin or optineurin). Mutations in these genes have a high likelihood of leading to glaucoma and are rarely seen in normal subjects. Other cases of POAG have a more complex genetic basis and are caused by the combined effects of many genetic and environmental risk factors, each of which do not act alone to cause glaucoma. These factors are more frequently detected in patients with POAG, but are also commonly observed in normal subjects. Additional genes that may be important in glaucoma pathogenesis have been investigated using quantitative traits approaches. Such studies have begun to identify genes that control the magnitude of important quantitative features of glaucoma that may also be important risk factors for POAG, such as central corneal thickness. Each of these different approaches to study glaucoma genetics is providing new insights into the pathogenesis of POAG.
青光眼有很大一部分是由遗传因素引起的。目前，大约 5%的原发性开角型青光眼（POAG）归因于单基因或孟德尔形式的青光眼（即由肌球蛋白或视神经病变突变引起的青光眼）。这些基因的突变极有可能导致青光眼，在正常人群中很少见。其他 POAG 病例具有更复杂的遗传基础，是由许多遗传和环境风险因素的综合作用引起的，每个因素都不会单独导致青光眼。这些因素在 POAG 患者中更为常见，但在正常人群中也很常见。已经使用定量特征方法研究了可能在青光眼发病机制中起重要作用的其他基因。此类研究已经开始确定控制青光眼重要定量特征幅度的基因，这些特征也可能是 POAG 的重要危险因素，例如中央角膜厚度。研究青光眼遗传学的这些不同方法都为 POAG 的发病机制提供了新的见解。
