原发性开角型青光眼易感基因研究进展  

Common susceptibility genes of primary open-angle glaucoma

作　　者：赵栋栋[1,2] 王艺 高建鲁[2] ZHAO Dongdong;WANG Yi;GAO Jianlu(Taishan Medical College, Tai＇an 271000, Shandong, China;Department of Ophthalmology, Liaocheng People＇s Hospital, Liaocheng 252000, Shandong, China;Department of Opthalmology, Affiliated Hospital of Taishan Medi- cal College, Tai＇an 271000, Shandong, China)

机构地区：[1]泰山医学院,山东泰安271000 [2]聊城市人民医院眼科,山东聊城252000 [3]泰山医学院附属医院眼科,山东泰安271000

出　　处：《山东大学耳鼻喉眼学报》2017年第6期92-96,共5页Journal of Otolaryngology and Ophthalmology of Shandong University

摘　　要：原发性开角型青光眼(POAG)是一种慢性进行性前部视神经病变,伴有典型的视杯凹陷和视野缺损,其发病机制尚不明确。目前,大量研究表明基因的变异与遗传在原发性开角型青光眼的发病中起着重要作用。已发现原发性开角型青光眼相关基因约20个,但与POAG明确相关的基因仅有三个:肌纤蛋白基因(MYOC)、视神经病变诱导基因(OPTN)、WDR36基因(WDR36)。小凹蛋白基因(CAV1/CAV2)以及细胞色素P450家族基因(CYP1B1)已成为青光眼遗传和基因研究的热点。综述就以上五个POAG相关基因的定位、结构及其可能的作用机制。Primary open-angle glaucoma （ POAG） is a neuropathy that can lead to irreversible visual field defects, and it is currently the second major disease in the world known to cause blindness. To date, significant research has demon-strated that genes and genetic variation play an important role in the glaucomatous pathogenesis; however, the mecha-nism is not yet entirely clear. Although more than 20 loci have been found to be linked with POAG, only three underly-ing genes have been identified （ MYOCilin, optineurin, and WD repeat domain 36） . The newly discovered caveolin 1/caveolin 2 gene and candidate gene cytochrome P450 family 1 subfamily B member 1 have also become hotspots in glau-coma genetic research. In this article, we will review the location, structure, and possible mechanisms of action of the aforementioned five pathogenic genes in relation to the pathogenesis of POAG.

关 键 词：原发性开角型青光眼 致病基因 基因变异 致病机制 

分 类 号：R775.2[医药卫生—眼科]