Whole-genome sequence-based analysis of high-density lipoprotein cholesterol

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cholesterol, HDL / genetics*
  • Cholesterol, HDL / metabolism
  • Computational Biology
  • Databases, Genetic
  • Genetic Variation
  • Genome, Human*
  • Genome-Wide Association Study*
  • Genomics
  • Heterozygote
  • Humans
  • Open Reading Frames


  • Cholesterol, HDL

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