Department of Pharmacy, University of Patras, Patras, Greece.
Curr Pharm Des. 2010;16(20):2224-31. doi: 10.2174/138161210791792804.
The completion of the human genome sequencing project and the establishment of new methods for the detection of point mutations have lead to a remarkable increase of sequence variants identification in a growing number of genes. As a result of this, a new field of research has emerged, pharmacogenomics, which deals with the influence of genetic variation on drug response by correlating gene expression or single-nucleotide polymorphisms with a drug's efficacy or toxicity. Genetic databases are continuously updated online repositories of mutation data, described for a single or more genes or specifically for a population or ethnic group. Genetic databases can also fulfil the mission of pharmacogenomics by helping elucidate gene function, estimate the prevalence of genes in populations, differentiate among subtypes of diseases, trace how genes may predispose to or protect against illnesses, and improve medical intervention. Therefore, it is expected that genetic databases will gradually assume an increasing importance in all aspects of genome medicine. This article aims to provide an update of the current and emerging types of genetic databases relevant to the field of pharmacogenomics. Moreover, the key elements that are holding back the field as well as the challenges that should be addressed in the near future are also commented.
人类基因组测序计划的完成和新的点突变检测方法的建立，导致越来越多的基因中序列变异的鉴定显著增加。由此产生了一个新的研究领域，即药物基因组学，它通过将基因表达或单核苷酸多态性与药物的疗效或毒性相关联，来研究遗传变异对药物反应的影响。
遗传数据库是在线突变数据存储库的不断更新，这些数据库针对单个或多个基因，或者专门针对特定人群或种族进行描述。遗传数据库还可以通过帮助阐明基因功能、估计基因在人群中的流行程度、区分疾病的亚型、追踪基因如何导致或预防疾病以及改善医学干预来完成药物基因组学的任务。
因此，预计遗传数据库将在基因组医学的所有方面逐渐变得更加重要。本文旨在提供与药物基因组学领域相关的当前和新兴类型的遗传数据库的最新信息。此外，还对阻碍该领域发展的关键因素以及未来需要解决的挑战进行了评论。
