Gamazon Eric R, Zhang Wei, Huang R Stephanie, Dolan M Eileen, Cox Nancy J
Department of Medicine, The University of Chicago, Illinois, USA.
Pharmacogenet Genomics. 2009 Oct;19(10):829-32. doi: 10.1097/FPC.0b013e3283317bac.
Human genetic variation is likely to be responsible for a substantial fraction of the variability in complex traits including drug response. Single nucleotide polymorphisms have been implicated in drug response using genome-wide association studies as well as candidate-gene approaches. A more comprehensive catalogue of human genetic variation should complement the current large-scale genotypic dataset from the International HapMap Project, which focuses on common genetic variants. The 1000 Genomes Project is an international research effort that aims to provide the most comprehensive map of human genetic variation using next-generation sequencing platforms. Owing to the lack of convenient tools, however, it is a challenge for the pharmacogenetic research community to take advantage of these data. Here, we present a new database of some pharmacogenes of particular interest to pharmacogenetic researchers. Our database provides a convenient portal for immediate utilization of the newly released 1000 Genomes Project data in pharmacogenetic studies.
人类遗传变异很可能是造成包括药物反应在内的复杂性状中很大一部分变异性的原因。单核苷酸多态性已通过全基因组关联研究以及候选基因方法与药物反应相关联。一份更全面的人类遗传变异目录应补充当前来自国际人类基因组单体型图计划(International HapMap Project)的大规模基因型数据集,该计划聚焦于常见遗传变异。千人基因组计划(The 1000 Genomes Project)是一项国际研究工作,旨在利用新一代测序平台提供最全面的人类遗传变异图谱。然而,由于缺乏便捷工具,药物遗传学研究群体要利用这些数据面临挑战。在此,我们展示了一个对药物遗传学研究人员特别感兴趣的一些药物基因的新数据库。我们的数据库提供了一个便捷入口,以便在药物遗传学研究中即时利用新发布的千人基因组计划数据。