Evolutionary Genetics of Coronary Heart Disease

Circulation. 2009;119:459-467
doi: 10.1161/CIRCULATIONAHA.108.809970

Keyue Ding, PhD; Iftikhar J. Kullo, MD

Nothing in biology makes sense except in the light of evolution.¹— —Theodosius Dobzhanksy, 1973

No biological problem is solved until both the proximate and the evolutionary causation has been elucidated. Furthermore, the study of evolutionary causes is as legitimate a part of biology as is the study of the usually physico-chemical proximate causes.²— —Ernst W. Mayr, 1982

Susceptibility to common diseases such as coronary heart disease (CHD) may in part reflect historical or evolutionary legacies,^3,4 and interest in studying evolutionary biology to gain novel insights into human health and disease is increasing. The evolutionary history of the human species may provide valuable insights into the origin of common diseases beyond what is possible by investigating only the most immediate or “proximal” causes of disease. The potential role of evolutionary biology in explaining disease causation was highlighted by Williams and Nesse³ and is often referred to as darwinian medicine. Although the relevance of an evolutionary perspective may vary depending on the disease under study, a strong argument could be made for studying the evolutionary genetics of CHD, a leading cause of human morbidity and death.
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Within the last decade, several important advances have made it possible to study “modern” diseases from an evolutionary perspective. The Human Genome Project⁵ provided a reference human genome, and the subsequent International HapMap Project^6,7 described genetic variations (mostly single nucleotide polymorphisms [SNPs]) among individuals and the patterns of variation across the genome. Both projects provide the raw material to study natural selection in the . . . [Full Text of this Article]