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Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

TitleWhole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Publication TypeJournal Article
Year of Publication2014
AuthorsLange LA, Hu Y, Zhang H, et al.
Secondary AuthorsWiller CJ
Corporate AuthorsNHLBI Grand Opportunity Exome Sequencing Project
JournalAm J Hum Genet
Volume94
Issue2
Pagination233-45
Date Published2014 Feb 06
ISSN1537-6605
KeywordsAdult, Aged, Apolipoproteins E, Cholesterol, LDL, Cohort Studies, Dyslipidemias, Exome, Female, Follow-Up Studies, Gene Frequency, Genetic Code, Genome-Wide Association Study, Genotype, Humans, Lipase, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Proprotein Convertase 9, Proprotein Convertases, Receptors, LDL, Sequence Analysis, DNA, Serine Endopeptidases
Abstract

Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98(th) or

DOI10.1016/j.ajhg.2014.01.010
Alternate JournalAm J Hum Genet
PubMed ID24507775
PubMed Central IDPMC3928660
Grant ListR01 CA082659 / CA / NCI NIH HHS / United States
RC2 HL102923 / HL / NHLBI NIH HHS / United States
R01 HL107816 / HL / NHLBI NIH HHS / United States
R01 HL109946 / HL / NHLBI NIH HHS / United States
RC2 HL102926 / HL / NHLBI NIH HHS / United States
R01 HL67406 / HL / NHLBI NIH HHS / United States
RC2 HL-102926 / HL / NHLBI NIH HHS / United States
U01 HG007416 / HG / NHGRI NIH HHS / United States
R01HL107816 / HL / NHLBI NIH HHS / United States
RC2 HL-102923 / HL / NHLBI NIH HHS / United States
P30 DK079637 / DK / NIDDK NIH HHS / United States
UL1 TR000124 / TR / NCATS NIH HHS / United States
T32 HL007208 / HL / NHLBI NIH HHS / United States
R00HL94535 / HL / NHLBI NIH HHS / United States
P30 DK063491 / DK / NIDDK NIH HHS / United States
RC2 HL-102924 / HL / NHLBI NIH HHS / United States
RC2 HL102924 / HL / NHLBI NIH HHS / United States
R01 AG008122 / AG / NIA NIH HHS / United States
P20 MD006899 / MD / NIMHD NIH HHS / United States
R01 AG033193 / AG / NIA NIH HHS / United States
R01 HL067406 / HL / NHLBI NIH HHS / United States
090532 / / Wellcome Trust / United Kingdom
R00 HL094535 / HL / NHLBI NIH HHS / United States
MC_PC_U127561128 / / Medical Research Council / United Kingdom
U01 DK062370 / DK / NIDDK NIH HHS / United States
UC2 HL102924 / HL / NHLBI NIH HHS / United States
RC2 HL-102925 / HL / NHLBI NIH HHS / United States
P30 DK020572 / DK / NIDDK NIH HHS / United States
RC2 HL103010 / HL / NHLBI NIH HHS / United States
RC2 HL-103010 / HL / NHLBI NIH HHS / United States
RC2 HL102925 / HL / NHLBI NIH HHS / United States
UC2 HL102925 / HL / NHLBI NIH HHS / United States
U01 AG049505 / AG / NIA NIH HHS / United States