Khetarpal Sumeet A, Rader Daniel J
Perelman School of Medicine, University of Pennsylvania, USA.
Perelman School of Medicine, University of Pennsylvania, USA.
Biochim Biophys Acta. 2014 Oct;1842(10):2010-2020. doi: 10.1016/j.bbadis.2014.06.007. Epub 2014 Jun 12.
A wealth of novel lipid loci have been identified through a variety of approaches focused on common and low-frequency variation and collaborative metaanalyses in multiethnic populations. Despite progress in identification of loci, the task of determining causal variants remains challenging. This work will undoubtedly be enhanced by improved understanding of regulatory DNA at a genomewide level as well as new methodologies for interrogating the relationships between noncoding SNPs and regulatory regions. Equally challenging is the identification of causal genes at novel loci. Some progress has been made for a handful of genes and comprehensive testing of candidate genes using multiple model systems is underway. Additional insights will be gleaned from focusing on low frequency and rare coding variation at candidate loci in large populations. This article is part of a Special Issue entitled: From Genome to Function.
通过多种针对多民族人群常见和低频变异以及协作性荟萃分析的方法,已经鉴定出大量新的脂质基因座。尽管在基因座鉴定方面取得了进展,但确定因果变异的任务仍然具有挑战性。对全基因组水平调控DNA的更好理解以及用于探究非编码单核苷酸多态性(SNP)与调控区域之间关系的新方法,无疑将推动这项工作的进展。在新基因座上鉴定因果基因同样具有挑战性。对于少数基因已经取得了一些进展,并且正在使用多种模型系统对候选基因进行全面测试。通过关注大群体中候选基因座的低频和罕见编码变异,将获得更多见解。本文是名为“从基因组到功能”的特刊的一部分。