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

Am J Hum Genet
Authors
Keywords
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

Year of Publication
2014
Journal
Am J Hum Genet
Volume
94
Issue
2
Pages
233-45
Date Published
2014 Feb 06
ISSN
1537-6605
URL
DOI
10.1016/j.ajhg.2014.01.010
PubMed ID
24507775
PubMed Central ID
PMC3928660
Links
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