Patel N, Adewoyin T, Chong N V
Laser and Retinal Research Unit, Kings College Hospital, London, UK.
Eye (Lond). 2008 Jun;22(6):768-76. doi: 10.1038/sj.eye.6702844. Epub 2007 May 11.
Age-related macular degeneration (AMD) is a common macular disease in the developed world and recent studies have shown that specific genes may be associated with it and may contribute to a higher risk of developing AMD.
Our objective was to review systematically recent publications related to the genetics of AMD and provide relevant information that would help both scientists and clinicians in advising patients.
A systematic search was performed on PubMed, Medline, and National Library of Medicine as well as ARVO abstracts using key words relevant to the genetic associations of AMD.
The most important genetic associations in AMD involved the complement factor H (CFH) gene, which showed that possession of the variant Y402H polymorphism significantly increases the risk for AMD. Protective genes have also been identified such as those on either factor B (BFor complement factor B (CFB)) or complement component 2 (C2) genes. The genes involved in inherited macular dystrophies such as ATP-binding cassette, subfamily A (ABC1), member 4 (ABCA4), vitelliform macular dystrophy (VMD2), tissue inhibitor of matrix metalloproteinase-3 (TIMP3), and EFEMP1have yielded some important information but further confirmatory work has yet to establish a clear association with AMD.
Patients with AMD possess specific genetic variants of the CFHgene, which put them at a higher risk of developing the disease. Other unaffected individuals may possess certain protective genetic variants, which could prevent them from developing AMD. Further research will no doubt shed light on other such mechanisms and these will be useful in identifying possible direct targets for drugs or indirectly through modulation of the genes responsible for disease presentation.
年龄相关性黄斑变性（AMD）是发达国家常见的黄斑疾病，近期研究表明特定基因可能与其相关，并可能导致患AMD的风险更高。
我们的目标是系统回顾近期与AMD遗传学相关的出版物，并提供有助于科学家和临床医生为患者提供建议的相关信息。
使用与AMD遗传关联相关的关键词，在PubMed、Medline、国立医学图书馆以及美国视觉与眼科学研究协会（ARVO）摘要中进行系统检索。
AMD中最重要的遗传关联涉及补体因子H（CFH）基因，该基因显示携带Y402H多态性变体显著增加患AMD的风险。还鉴定出了保护性基因，如因子B（BF或补体因子B（CFB））或补体成分2（C2）基因上的那些基因。参与遗传性黄斑营养不良的基因，如ATP结合盒亚家族A（ABC1）成员4（ABCA4）、卵黄样黄斑营养不良（VMD2）、基质金属蛋白酶-3组织抑制剂（TIMP3）和EFEMP1，已经产生了一些重要信息，但进一步的验证工作尚未确定与AMD的明确关联。
AMD患者具有CFH基因的特定遗传变体，这使他们患该病的风险更高。其他未受影响的个体可能拥有某些保护性遗传变体，这可以防止他们患AMD。进一步的研究无疑将阐明其他此类机制，这些机制将有助于识别可能的药物直接靶点或通过调节导致疾病表现的基因间接识别靶点。
