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Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

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... Full description

Journal Title: The American Journal of Human Genetics 06 February 2014, Vol.94(2), pp.233-245
Main Author: Lange, Leslie a
Other Authors: Hu, Youna , Zhang, He , Xue, Chenyi , Schmidt, Ellen m , Tang, Zheng-Zheng , Bizon, Chris , Lange, Ethan m , Smith, Joshua d , Turner, Emily h , Jun, Goo , Kang, Hyun min , Peloso, Gina , Auer, Paul
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1016/j.ajhg.2014.01.010
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recordid: elsevier_sdoi_10_1016_j_ajhg_2014_01_010
title: Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
format: Article
creator:
  • Lange, Leslie a
  • Hu, Youna
  • Zhang, He
  • Xue, Chenyi
  • Schmidt, Ellen m
  • Tang, Zheng-Zheng
  • Bizon, Chris
  • Lange, Ethan m
  • Smith, Joshua d
  • Turner, Emily h
  • Jun, Goo
  • Kang, Hyun min
  • Peloso, Gina
  • Auer, Paul
subjects:
  • Biology
ispartof: The American Journal of Human Genetics, 06 February 2014, Vol.94(2), pp.233-245
description: 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 or
language: eng
source:
identifier: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1016/j.ajhg.2014.01.010
fulltext: fulltext
issn:
  • 0002-9297
  • 00029297
  • 1537-6605
  • 15376605
url: Link


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titleWhole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
creatorLange, Leslie a ; Hu, Youna ; Zhang, He ; Xue, Chenyi ; Schmidt, Ellen m ; Tang, Zheng-Zheng ; Bizon, Chris ; Lange, Ethan m ; Smith, Joshua d ; Turner, Emily h ; Jun, Goo ; Kang, Hyun min ; Peloso, Gina ; Auer, Paul
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descriptionElevated 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 or <2 percentile). Follow-up analyses included sequencing of 1,302 additional individuals and genotype-based analysis of 52,221 individuals. We observed significant evidence of association between LDL-C and the burden of rare or low-frequency variants in , encoding a phospholipase-domain-containing protein, and both known and previously unidentified variants in , and , three known...
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