Chapter 1. Candidate Gene and Genome-Wide Association Studies

  1. Dan Roden MD Professor Director Assistant Vice-Chancellor
  1. J. Gustav Smith MD1,2 and
  2. Christopher Newton-Cheh MD, MPH, FACC, FAHA Assistant Professor3

Published Online: 27 APR 2009

DOI: 10.1002/9781444311785.ch1

Cardiovascular Genetics and Genomics

Cardiovascular Genetics and Genomics

How to Cite

Smith, J. G. and Newton-Cheh, C. (2009) Candidate Gene and Genome-Wide Association Studies, in Cardiovascular Genetics and Genomics (ed D. Roden), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444311785.ch1

Editor Information

  1. Oates Institute for Experimental Therapeutics, Personalized Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA

Author Information

  1. 1

    Broad Institute of Harvard and MIT, Cambridge, MA, USA

  2. 2

    Department of Clinical Sciences, Lund University, Sweden

  3. 3

    Harvard Medical School, Broad Institute of Harvard and MIT, Massachusetts General Hospital, Boston, MA, USA

Publication History

  1. Published Online: 27 APR 2009
  2. Published Print: 17 APR 2009

Book Series:

  1. The AHA Clinical Series

Book Series Editors:

  1. Elliott Antman

ISBN Information

Print ISBN: 9781405175401

Online ISBN: 9781444311785



  • candidate gene and genome-wide association studies;
  • international HapMap project;
  • association analysis;
  • genome-wide association (GWA) analyses;
  • single nucleotide polymorphisms (SNPs);
  • linkage disequilibrium (LD);
  • angiotensin I-converting enzyme (ACE);
  • genetic epidemiology


This chapter contains sections titled:

  • Introduction

  • DNA sequence variants and linkage disequilibrium

  • Genetic architecture of human traits

  • Principles of genetic association studies

  • Candidate gene association studies

  • Genome-wide association studies

  • Utility of candidate gene and genome-wide approaches

  • Sampling designs

  • Challenges in association studies

  • Outlook for the future

  • References