Kanoff Justin, Miller Joan
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School , Boston, Massachusetts , USA.
Semin Ophthalmol. 2013 Sep-Nov;28(5-6):355-60. doi: 10.3109/08820538.2013.825292. Epub 2013 Sep 6.
Age-related macular degeneration is a major cause of blindness among people aged 50 and older in industrialized countries. Anti-VEGF therapy has been tremendously successful in the treatment of neovascular macular degeneration. Examining the pharmacogenetics of patients' response to the anti-VEGF molecules could allow for a tailored treatment strategy based on patients' underlying genetics rather than the "one-size fits all" approach currently used.
Review of the English literature for papers examining the pharmacogenetics of treatment response of neovascular macular degeneration to either ranibizumab or bevacizumab. Polymorphisms in CFH, ARMS2, HTRA1 and VEGF A were examined and reviewed.
Patients with the high-risk CC genotype in complement factor H (CFH) had a worse response to therapy with ranibizumab and bevacizumab. No clear trends were found with ARMS2, HTRA1 and VEGF A.
The goal of personalized medicine is to craft a treatment program that is ideally suited to an individual patient's disease and genetic make-up rather than simply what works for a large population who share similar disease characteristics. Continued research is needed to achieve this goal for the treatment of age-related macular degeneration.
年龄相关性黄斑变性是工业化国家50岁及以上人群失明的主要原因。抗血管内皮生长因子（VEGF）疗法在治疗新生血管性黄斑变性方面取得了巨大成功。研究患者对抗VEGF分子反应的药物遗传学，有助于制定基于患者潜在遗传学的个性化治疗策略，而非目前采用的“一刀切”方法。
检索英文文献，查找研究雷珠单抗或贝伐单抗治疗新生血管性黄斑变性反应的药物遗传学的论文。对补体因子H（CFH）、年龄相关性黄斑病变易感性2（ARMS2）、丝氨酸蛋白酶HTRA1和血管内皮生长因子A（VEGF A）的多态性进行了研究和综述。
补体因子H（CFH）中具有高危CC基因型的患者，对雷珠单抗和贝伐单抗治疗的反应较差。在ARMS2、HTRA1和VEGF A方面未发现明显趋势。
个性化医疗的目标是制定一个理想地适合个体患者疾病和基因构成的治疗方案，而不是简单地适用于具有相似疾病特征的大量人群的方案。为实现年龄相关性黄斑变性治疗的这一目标，仍需继续开展研究。
