Hegele Robert A
Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, 406-100 Perth Drive, London, Ontario, Canada N6A 5K8.
Nat Rev Genet. 2009 Feb;10(2):109-21. doi: 10.1038/nrg2481. Epub 2009 Jan 13.
Susceptibility to the growing global public health problem of cardiovascular disease is associated with levels of plasma lipids and lipoproteins. Several experimental strategies have helped us to clarify the genetic architecture of these complex traits, including classical studies of monogenic dyslipidaemias, resequencing, phenomic analysis and, more recently, genome-wide association studies and analysis of metabolic networks. The genetic basis of plasma lipoprotein levels can now be modelled as a mosaic of contributions from multiple DNA sequence variants, both rare and common, with varying effect sizes. In addition to filling gaps in our understanding of plasma lipoprotein metabolism, the recent genetic advances will improve our ability to classify, diagnose and treat dyslipidaemias.
对日益严重的全球心血管疾病公共卫生问题的易感性与血浆脂质和脂蛋白水平相关。几种实验策略帮助我们阐明了这些复杂性状的遗传结构,包括单基因血脂异常的经典研究、重测序、表型组分析,以及最近的全基因组关联研究和代谢网络分析。血浆脂蛋白水平的遗传基础现在可以被建模为多种罕见和常见DNA序列变异贡献的镶嵌体,其效应大小各不相同。除了填补我们对血浆脂蛋白代谢理解上的空白外,最近的遗传学进展将提高我们对血脂异常进行分类、诊断和治疗的能力。