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Am J Hum Genet DOI:10.1016/j.ajhg.2014.01.010

Whole-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, Xue, C, Schmidt, EM, Tang, Z-zheng, Bizon, C, Lange, EM, Smith, JD, Turner, EH, Jun, G, Kang, HMin, Peloso, G, Auer, P, Li, K-P, Flannick, J, Zhang, J, Fuchsberger, C, Gaulton, K, Lindgren, C, Locke, A, Manning, A, Sim, X, Rivas, MA, Holmen, OL, Gottesman, O, Lu, Y, Ruderfer, D, Stahl, EA, Duan, Q, Li, Y, Durda, P, Jiao, S, Isaacs, A, Hofman, A, Bis, JC, Correa, A, Griswold, ME, Jakobsdottir, J, Smith, AV, Schreiner, PJ, Feitosa, MF, Zhang, Q, Huffman, JE, Crosby, J, Wassel, CL, Do, R, Franceschini, N, Martin, LW, Robinson, JG, Assimes, TL, Crosslin, DR, Rosenthal, EA, Tsai, M, Rieder, MJ, Farlow, DN, Folsom, AR, Lumley, T, Fox, ER, Carlson, CS, Peters, U, Jackson, RD, van Duijn, CM, Uitterlinden, AG, Levy, D, Rotter, JI, Taylor, HA, Gudnason, V, Siscovick, DS, Fornage, M, Borecki, IB, Hayward, C, Rudan, I, Y Chen, E, Bottinger, EP, Loos, RJF, Sætrom, P, Hveem, K, Boehnke, M, Groop, L, McCarthy, M, Meitinger, T, Ballantyne, CM, Gabriel, SB, O'Donnell, CJ, Post, WS, North, KE, Reiner, AP, Boerwinkle, E, Psaty, BM, Altshuler, D, Kathiresan, S, Lin, D-Y, Jarvik, GP, L Cupples, A, Kooperberg, C, Wilson, JG, Nickerson, DA, Abecasis, GR, Rich, SS, Tracy, RP, Willer, CJ
Corporate AuthorsNHLBI Grand Opportunity Exome Sequencing Project
JournalAm J Hum Genet
Volume94
Issue2
Pages233-45
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

URLhttp://linkinghub.elsevier.com/retrieve/pii/S0002-9297(14)00011-1
DOI10.1016/j.ajhg.2014.01.010
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/24507775?dopt=Abstract

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