湿性年龄相关性黄斑变性药物遗传学的研究进展

Research progress of pharmacogenetics with wet age-related macular degeneration

年龄相关性黄斑变性(age-related macular degeneration,ARMD)是一种多因素疾病,其中遗传因素在它的发病机制中起着重要的作用。目前抗血管内皮生长因子药物的眼内注射是湿性ARMD的首选治疗手段,但疗效却存在个体差异。本文概括总结了血管内皮生长因子(vascular endothelial growth factor,VEGF)基因、补体因子H(complement factor H,CFH)基因、年龄相关性黄斑病变易感因子2(age-related maculopathy susceptibility 2,ARMS2)基因和高温需求蛋白A-1(high-temperature requirement A-1,HTRA1)基因的单核苷酸多态性(single-nucleotide polymorphisms,SNP)在湿性ARMD药物遗传学方面的研究,以期进一步了解疾病的遗传机制,为临床个体化精准治疗及预测预后提供依据。

Age-related macular degeneration(ARMD)is a multifactorial disease,genetic factors play important roles in the pathogenesis of the disease.To date,intraocular injection of anti-vascular endothelial growth factor drugs is the first choice for the treatment of wet ARMD,but the response is variable.This review summarizes vascular endothelial growth factor(VEGF)gene,complement factor H(CFH)gene,age-related maculopathy susceptibility 2(ARMS2)gene and high-temperature requirement A-1(HTRA1)gene single-nucleotide polymorphisms(SNP)in the study of pharmacological genetics of wet ARMD.It is still worthy of further investigations that the genetic mechanism of the disease,so that we can provide individualized treatment sequences and predict the response to anti-VEGF therapy.