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

NHLBI Grand Opportunity Exome Sequencing Project, Leslie A Lange, Youna Hu, He Zhang, Chenyi Xue, Ellen M Schmidt, Zheng-Zheng Tang, Chris Bizon, Ethan M Lange, Joshua D Smith, Emily H Turner, Goo Jun, Hyun Min Kang, Gina Peloso, Paul Auer, Kuo-Ping Li, Jason Flannick, Ji Zhang, Christian Fuchsberger, Kyle GaultonCecilia Lindgren, Adam Locke, Alisa Manning, Xueling Sim, Manuel A Rivas, Oddgeir L Holmen, Omri Gottesman, Yingchang Lu, Douglas Ruderfer, Eli A Stahl, Qing Duan, Yun Li, Peter Durda, Shuo Jiao, Aaron Isaacs, Albert Hofman, Joshua C Bis, Adolfo Correa, Michael E Griswold, Johanna Jakobsdottir, Albert V Smith, Pamela J Schreiner, Mary F Feitosa, Qunyuan Zhang, Jennifer E Huffman, Jacy Crosby, Christina L Wassel, Ron Do, Nora Franceschini, Caroline Hayward, Igor Rudan

Research output: Contribution to journalArticlepeer-review

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 (>98th or

Original languageEnglish
Pages (from-to)233-245
Number of pages13
JournalAmerican Journal of Human Genetics
Volume94
Issue number2
DOIs
Publication statusPublished - 6 Feb 2014

Keywords

  • DENSITY-LIPOPROTEIN-CHOLESTEROL
  • HEART-DISEASE
  • DESIGN
  • PLASMA
  • OBJECTIVES
  • ATHEROSCLEROSIS
  • SUSCEPTIBILITY
  • ABSORPTION
  • SPECTRUM
  • RISK

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