摘要
年龄相关性黄斑变性(AMD)是50岁以上人群致盲的重要原因之一。AMD可使中心视力进行性、不可逆性丧失,其发病机制尚不明确。近年来,研究人员已通过全基因组关联分析(GWAS)筛选出一系列AMD相关基因(CFH、ARMS2、HTRA1等)和相应的单核苷酸多态性(SNP)位点。通过检测这些位点,我们可以预测高危人群的AMD发生风险、AMD疾病亚型和进展情况,以及患者对治疗的敏感性。基因治疗方面,目前针对发病机制的研究突破较少,基因治疗集中在抗血管内皮生长因子(VEGF)治疗和补体通路的抑制、RNA干扰技术等方面,通过腺相关病毒载体递送和表达相应功能蛋白,从而抑制AMD的进展,但其安全性和有效性仍有待进一步评估。就AMD相关基因的SNP、基因诊断和基因治疗研究进展进行综述。
Age-related macular degeneration(AMD)is one of the leading causes of blindness for the elderly over 50,characterized by loss of central vision irreversibly.The mechanism of AMD is not clear.In recent years,researchers have screened a variety of AMD-related genes(CFH,ARMS2,HTRA1,etc.)and single nucleotide polymorphisms(SNPs)through genome-wide association study(GWAS).By testing these specific loci in high-risk populations,we can predict the risk of AMD,the subtypes,how AMD would develop,and how patients would react to treatment.There are few breakthroughs in the pathogenesis of the disease.Gene therapy focuses on anti-vascular endothelial growth factor(VEGF),complement pathway inhibition and RNA interference,by expressing functional proteins through transfection of adeno-associated virus vectors,but the safety and efficacy remains to be further evaluated.
作者
许晶晶(综述)
胡运韬(审校)
Xu Jingjing;Hu Yuntao(Department of Ophthalmology,Beijing Tsinghua Changgung Hospital,School of Clinical Medicine,Tsinghua University,Beijing 102218,China)
出处
《中华实验眼科杂志》
CAS
CSCD
北大核心
2020年第8期715-720,共6页
Chinese Journal Of Experimental Ophthalmology
基金
国家自然科学基金项目(81641080)。
关键词
年龄相关性黄斑变性
单核苷酸多态性
基因诊断
基因治疗
Age-related macular degeneration
Single nucleotide polymorphism
Genetic diagnosis
Gene therapy
