Department of Biological Sciences, Oakland University, Rochester, MI, USA.
Graefes Arch Clin Exp Ophthalmol. 2010 Aug;248(8):1057-61. doi: 10.1007/s00417-010-1333-x. Epub 2010 Mar 5.
Individual variation in drug response and adverse drug reactions are a serious problem in medicine. This inter-individual variation in drug response could be due to multiple factors such as disease determinants, environmental and genetic factors. Much has been published in the literature in recent years about the potential of pharmacogenetic testing and individualized medicine. The development of personalized medicine is truly an exciting area of research.
This pharmacogenetic concept in ophthalmology has existed for more than a century. Although substantial studies that link genetic variants to inter-individual difference in drug response have been reported in several diseases such as cancer and heart diseases, such studies are progressing slowly in the eye field. In this short article, an attempt has been made to summarize these results.
Recently, there have been some small-scale studies that seem to associate the drug response to the genotype of patients in two major eye disorders, namely age-related macular degeneration (ARMD) and glaucoma.
These studies are still in their infancy, and do not suggest that a pharmacogenetic basis of drug development is a credible concept and can become reality in the future. This is because most drug responses involve a large number of genes that have several polymorphisms and it is unlikely that any one single gene dictates the drug response. Therefore, a polygenic approach, whole genome single nucleotide polymorphism (SNP) analysis and a molecular understanding of disease itself may provide a better insight in the future about genetic predisposing factors for adverse drug reactions.
药物反应和药物不良反应的个体差异是医学中的一个严重问题。这种药物反应的个体差异可能是由于多种因素引起的，如疾病决定因素、环境和遗传因素。近年来，文献中发表了大量关于药物遗传学检测和个体化医学的潜力的文章。个性化医学的发展确实是一个令人兴奋的研究领域。
这种眼科学中的药物遗传学概念已经存在了一个多世纪。尽管在癌症和心脏病等几种疾病中已经有大量研究报道了遗传变异与药物反应个体差异之间的联系，但在眼部领域，这些研究进展缓慢。在这篇简短的文章中，我们试图总结这些结果。
最近，有一些小规模的研究似乎将药物反应与两种主要眼部疾病（即年龄相关性黄斑变性（AMD）和青光眼）的患者基因型联系起来。
这些研究仍处于起步阶段，并不表明药物开发的药物遗传学基础是一个可信的概念，并能在未来成为现实。这是因为大多数药物反应涉及大量具有多种多态性的基因，而且不太可能有任何一个单一基因决定药物反应。因此，多基因方法、全基因组单核苷酸多态性（SNP）分析和对疾病本身的分子理解可能会为未来提供更好的遗传易感性药物不良反应的见解。
