CAJ | 학술논문

原发性青光眼包括原发性开角型青光眼(POAG)、原发性闭角型青光眼(PACG)及原发性婴幼儿青光眼(PCG).目前认为原发性青光眼的发病是遗传因素、环境因素、生活习惯等多种因素综合作用的结果,其中遗传因素,尤其是基因突变,在青光眼的发病过程中起着重要作用.自1997年发现CYP1B1基因为PCG的致病基因以来,关于CYP1B1基因突变与青光眼发病关系的研究成为青光眼遗传和基因研究的热点.随着研究的逐渐深入,许多学者认为CYP1B1基因也是POAG致病基因的候选基因.本研究对近十余年来对CYP1 B1基因的结构和功能以及CYP1B1基因突变与POAG发病及进展关系的研究进展进行总结.
원발성청광안포괄원발성개각형청광안(POAG)、원발성폐각형청광안(PACG)급원발성영유인청광안(PCG).목전인위원발성청광안적발병시유전인소、배경인소、생활습관등다충인소종합작용적결과,기중유전인소,우기시기인돌변,재청광안적발병과정중기착중요작용.자1997년발현CYP1B1기인위PCG적치병기인이래,관우CYP1B1기인돌변여청광안발병관계적연구성위청광안유전화기인연구적열점.수착연구적축점심입,허다학자인위CYP1B1기인야시POAG치병기인적후선기인.본연구대근십여년래대CYP1 B1기인적결구화공능이급CYP1B1기인돌변여POAG발병급진전관계적연구진전진행총결.
Primary glaucoma is a group of blinding eye diseases,including of primary open angle glaucoma (POAG),primary angle-closure glaucoma (PACG) and primary congenital glaucoma (PCG).It is thought that the pathogenesis of primary glaucoma is a comprehensive action of genetic factor,environment factor and life style,and the genetic factor plays an important role.CYP1B1 gene was firstly identified as a causal gene for PCG in 1997.After that,thousands of reports on the pathogenesis of POAG focused on CYP1B1 gene mutation.With the developing of research,researches found that CYP1B1 gene to be one of the candidate genes of POAG.The structure and function of CYP1B1 gene,the relationship between CYP1B1 and POAG were reviewed.