原发性开角型青光眼的分子遗传学研究进展

原发性开角型青光眼(POAG)是常见的不可逆性致盲眼病,以病理性眼压升高和视神经损伤为主要特点,同时伴有一定的遗传特征.利用传统的基因定位和候选策略,以及近年来快速发展的遗传学研究方法,如全基因组关联研究和全外显子测序技术等技术,目前已经鉴定出16个与POAG发病相关的遗传位点,其中MYOC、OPTN和WDR36是研究较为确切且公认的与POAG发病相关的致病基因.同时,新的致病基因不断被发现,如新近鉴定出的NTF4和TBK1等基因扩充了POAG的突变库.这些致病基因的发现也使人们对POAG的发病机制有了更深入的认识,也为该病的遗传学研究和基因治疗提供了坚实基础.现就POAG分子遗传学研究方法和相关位点进行综述,为该病的遗传学诊断和精准治疗提供一定的参考.

Advances in genetic study of primary open angle glaucoma

Primary open angle glaucoma (POAG) is a complex and heterogeneous neurodegenerative disease caused by genetic and environmental factors,and it is also one of the leading causes of irreversible blindness worldwide.Recent molecular genetic studies revealed that numbers of susceptible gene variants are associated with POAG,and the researching technology includes genome wide association study and whole exon sequence.Studies of POAG families discovered 16 loci linked to the disease.To date,three genes were reported to be the causative genes of POAG,they are these studies MYOC,OPTN and WDR36.Other causative or presumably causative genes are thought to contribute to POAG,such as NTF4 and TBK1.Genetic factor for the path ogenesis POAG is being widely concerned,and provides a solid foundation for genetic research and gene therapy of this disease.In this paper,we reviewed a comprehensive discussion of the genetics and research strategies of POAG.