Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA.
Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard & MIT, Cambridge, MA 02142, USA.
Curr Opin Genet Dev. 2018 Jun;50:1-6. doi: 10.1016/j.gde.2018.01.003. Epub 2018 Feb 13.
Plasma lipid levels are heritable quantitative risk factors and therapeutic targets for cardiovascular disease. Plasma lipids have been a model for translating genetic observations across the allele frequency spectrum to unique biological and therapeutic insights. Most large studies to date predominately comprised of individuals of European ancestry. This review focuses on contemporary evidence from 2016 to 2017 looking at the effect of genetic variants on plasma lipid levels across the allele frequency spectrum with incrementally larger sample sizes and the contribution of non-European ancestry studies to the genetic etiology of plasma lipid levels. To date, over 250 loci have been associated with plasma lipid levels and several of these loci have additional evidence of association with rare coding variants providing evidence for causal genes at the locus.
血浆脂质水平是遗传性定量风险因素，也是心血管疾病的治疗靶点。血浆脂质一直是将遗传观察结果转化为独特的生物学和治疗学见解的模型。迄今为止，大多数大型研究主要由欧洲血统的个体组成。本综述重点介绍了 2016 年至 2017 年的最新证据，研究了遗传变异在整个等位基因频率范围内对血浆脂质水平的影响，样本量逐渐增大，以及非欧洲血统研究对血浆脂质水平遗传病因学的贡献。迄今为止，已有 250 多个位点与血浆脂质水平相关，其中一些位点与罕见编码变异的关联证据进一步证明了该位点的因果基因。
