title: Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.
abstract: 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.
authors.affiliation: Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas, USA.
authors.forename: Alanna C
authors.initials: AC
authors.lastname: Morrison
authors.forename: Arend
authors.initials: A
authors.lastname: Voorman
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Johnson
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Liu
authors.forename: Jin
authors.initials: J
authors.lastname: Yu
authors.forename: Alexander
authors.initials: A
authors.lastname: Li
authors.forename: Donna
authors.initials: D
authors.lastname: Muzny
authors.forename: Fuli
authors.initials: F
authors.lastname: Yu
authors.forename: Kenneth
authors.initials: K
authors.lastname: Rice
authors.forename: Chengsong
authors.initials: C
authors.lastname: Zhu
authors.forename: Joshua
authors.initials: J
authors.lastname: Bis
authors.forename: Gerardo
authors.initials: G
authors.lastname: Heiss
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: O'Donnell
authors.forename: Bruce M
authors.initials: BM
authors.lastname: Psaty
authors.forename: L Adrienne
authors.initials: LA
authors.lastname: Cupples
authors.forename: Richard
authors.initials: R
authors.lastname: Gibbs
authors.forename: Eric
authors.initials: E
authors.lastname: Boerwinkle
mesh_terms: D008076:Cholesterol, HDL / Q000235:genetics* / Q000378:metabolism; D019295:Computational Biology; D030541:Databases, Genetic; D014644:Genetic Variation; D015894:Genome, Human; D055106:Genome-Wide Association Study; D023281:Genomics; D006579:Heterozygote; D006801:Humans; D016366:Open Reading Frames
chemical_list: D008076:Cholesterol, HDL