Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas, USA.
Nat Genet. 2013 Aug;45(8):899-901. doi: 10.1038/ng.2671. Epub 2013 Jun 16.
We describe initial steps for interrogating whole-genome sequence data to characterize the genetic architecture of a complex trait, levels of high-density lipoprotein cholesterol (HDL-C). We report whole-genome sequencing and analysis of 962 individuals from the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) studies. From this analysis, we estimate that common variation contributes more to heritability of HDL-C levels than rare variation, and screening for mendelian variants for dyslipidemia identified individuals with extreme HDL-C levels. Whole-genome sequencing analyses highlight the value of regulatory and non-protein-coding regions of the genome in addition to protein-coding regions.
我们描述了从全基因组序列数据中获取信息，以研究复杂特征（高密度脂蛋白胆固醇（HDL-C）水平）的遗传结构的初始步骤。我们报告了来自遗传流行病学中的心脏和衰老研究队列（CHARGE）研究的 962 个人的全基因组测序和分析。通过这项分析，我们估计常见变异对 HDL-C 水平的遗传力的贡献大于罕见变异，并且筛选用于血脂异常的孟德尔变体鉴定出了具有极端 HDL-C 水平的个体。全基因组测序分析除了蛋白质编码区域外，还强调了基因组的调控和非编码区域的价值。
