摘要原发性开角型青光眼(POAG)是一组威胁和损害视神经视觉功能,与病理性眼压升高有关的临床眼病,其全球范围内的致盲率仅次于白内障.近几年来,遗传学的研究方法在眼科基础研究中应用较多,主要有家系连锁分析、全基因组关联分析、病例对照相关研究等,通过这些方法已发现多个相关基因.目前已发现报道超过20个染色体位点与POAG相关,较为公认的有MYOC、OPTN、WDR36.然而这3个基因的突变能解释的POAG仅占不到10％.只有一小部分POAG病例遵循孟德尔遗传规律,更多的是由多个基因共同作用所导致.就目前较为明确的POAG相关基因位点,尤其是已确认的MYOC、OPTN、WDR36,以及最新发现的CAVI/CAV24个相关致病基因的定位、结构、功能和突变等方面进行综述,希望能揭示研究相关的一些规律,为POAG进一步的遗传研究提供理论参考.

abstractsPrimary open angle glaucoma (POAG) is a group of disorders characterized by loss of retinal ganglion cells (RGCs) associated with optic nerve degeneration and visual field damage.With the application of molecular biology in ophthalmology,at least 20 chromosome loci have been identified to be linked to POAG.Only 3 causative genes were identified from these loci,i.e.myocilin (MYOC),optineurin (OPTN) and WD repeat domain 36 (WDR36),which altogether account for less than 10％ of POAG.Only a portion of POAG Complies with Mendelian inheritance,and a considerable fraction results from a large number of variants in multiple genes,each contributing less effects.The main technological approaches include family linkage analysis,genome-wide scan,casecontrol association study,etc.Association studies found at least 16 genes to be related to POAG,but reports on glaucoma-causing effects of these genes are conflicting.In this article,we reviewed the POAG related genes,especially the four well known causative genes of MYOC,OPTN,WDR36,and CA V1/CA V2,in terms of their locations,structures,functions,and mutations.