Chapter 21. Genetics of Coronary Heart Disease

  1. Salim Yusuf DPhil, FRCPC, FRSC Research Chair Professor of Medicine Director Vice President Research3,4,5,
  2. John A Cairns MD, FRCPC Professor of Medicine Former Dean6,
  3. A John Camm MD British Heart Foundation Professor Head of Cardiac7,
  4. Ernest L Fallen MD, FRCPC Professor Emeritus8 and
  5. Bernard J Gersh MB, ChB, DPhil Consultant Professor of Medicine9
  1. Michael S Cunnington BMedSci, MB BS (Hons), MRCP British Cardiovascular Society Swire Research Fellow1 and
  2. Bernard D Keavney MD Professor of Cardiology1,2

Published Online: 21 MAY 2010

DOI: 10.1002/9781444309768.ch21

Evidence-Based Cardiology, Third Edition

Evidence-Based Cardiology, Third Edition

How to Cite

Cunnington, M. S. and Keavney, B. D. (2009) Genetics of Coronary Heart Disease, in Evidence-Based Cardiology, Third Edition (eds S. Yusuf, J. A. Cairns, A. J. Camm, E. L. Fallen and B. J. Gersh), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444309768.ch21

Editor Information

  1. 3

    McMaster University, Canada

  2. 4

    Population Health Research Institute, McMaster University, Hamilton Health Sciences, Canada

  3. 5

    Hamilton Health Sciences, Hamilton, Ontario, Canada

  4. 6

    Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada

  5. 7

    St George's University of London, London, UK

  6. 8

    McMaster University Faculty of Health Sciences, Hamilton, Ontario, Canada

  7. 9

    Mayo Clinic College of Medicine, Rochester, MN, USA

Author Information

  1. 1

    Institute of Human Genetics, Newcastle University, Newcastle-upon-Tyne, UK

  2. 2

    Department of Cardiology, Newcastle University, Newcastle-upon-Tyne, UK

Publication History

  1. Published Online: 21 MAY 2010
  2. Published Print: 13 NOV 2009

ISBN Information

Print ISBN: 9781405159258

Online ISBN: 9781444309768



  • genetics - coronary heart disease (CHD);
  • coronary heart disease - complex phenotype;
  • Mendelian disorder - familial hypercholesterolemia;
  • chromosomes - results of new mutations, genetic recombination on ancestral haplotypes;
  • diabetes - risk factor for CHD;
  • disease-genotype association - validating trait-genotype association;
  • health measures yielding substantial reductions in CHD morbidity;
  • single nucleotide polymorphism - human genetic variation


This chapter contains sections titled:

  • Evidence for genetic susceptibility to coronary heart disease

  • Genetic architecture of coronary heart disease susceptibility

  • Mendelian disorders associated with coronary artery disease

  • Family-based studies of non-Mendelian coronary heart disease: genome-wide linkage a nalysis

  • Single nucleotide polymorphisms and the human haplotype map

  • Candidate-gene association studies in coronary heart disease

  • Identification of lymphotoxin-alpha and galectin 2 by association study of 93 000 single nucleotide polymorphisms

  • Genome-wide association studies of coronary heart disease endpoints

  • The chromosome 9p21 region: mechanistic clues and candidate genes

  • Genome-wide association studies of plasma lipids: new loci

  • “Mendelian randomization” studies: using genetics to identify causal emerging risk factors

  • Genetic testing in coronary heart disease: ready for “prime time”?

  • Low-frequency intermediate penetrance variants: still largely unknown territory

  • Pharmacogenetic studies in cardiovascular disease

  • Conclusion

  • Glossary of genetic terms used

  • References