Title | Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Lange LA, Hu Y, Zhang H, et al. |
Secondary Authors | Willer CJ |
Corporate Authors | NHLBI Grand Opportunity Exome Sequencing Project |
Journal | Am J Hum Genet |
Volume | 94 |
Issue | 2 |
Pagination | 233-45 |
Date Published | 2014 Feb 06 |
ISSN | 1537-6605 |
Keywords | Adult, 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 |
DOI | 10.1016/j.ajhg.2014.01.010 |
Alternate Journal | Am J Hum Genet |
PubMed ID | 24507775 |
PubMed Central ID | PMC3928660 |
Grant List | R01 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 |