Abstract:
Age-related macular degeneration (AMD) is a multifactorial genetic disease, with at least 52 identifiable associated gene variants at 34 loci, including variants in complement factor H (CFH) and age-related maculopathy susceptibility 2/high-temperature requirement A serine peptidase-1 (ARMS2/HTRA1). Genetic factors account for up to 70% of disease variability. However, population-based genetic risk scores are generally more helpful for clinical trial design and stratification of risk groups than for individual patient counseling. There is some evidence of pharmacogenetic influences on various treatment modalities used in AMD patients, including Age-Related Eye Disease Study (AREDS) supplements, photodynamic therapy (PDT), and anti-vascular endothelial growth factor (anti-VEGF) agents. However, there is currently no convincing evidence that genetic information plays a role in routine clinical care.
摘要:
年龄相关性黄斑变性(AMD)是一种多因素遗传疾病,在34个基因座至少有52个可识别的相关基因变异,包括补体因子H(CFH)变异体和年龄相关性黄斑病变易感性2/高温要求A丝氨酸肽酶-1(ARMS2/HTRA1).遗传因素占疾病变异性的70%。然而,与个体患者咨询相比,基于人群的遗传风险评分通常更有助于临床试验设计和风险组分层.有一些证据表明药物遗传学对AMD患者使用的各种治疗方式有影响,包括与年龄相关的眼病研究(AREDS)补充剂,光动力疗法(PDT),和抗血管内皮生长因子(抗VEGF)药物。然而,目前没有令人信服的证据表明遗传信息在常规临床治疗中起作用.