Genetic susceptibility to peripheral arterial disease: A dark corner in vascular biology

Joshua W. Knowles, Themistocles L. Assimes, Jun Li, Thomas Quertermous, John P. Cooke

Research output: Contribution to journalShort surveypeer-review

63 Scopus citations


Peripheral arterial disease (PAD) is characterized by reduced blood flow to the limbs, usually as a consequence of atherosclerosis, and affects ≈12 million Americans. It is a common cause of cardiovascular morbidity and an independent predictor of cardiovascular mortality. Similar to other atherosclerotic diseases, such as coronary artery disease, PAD is the result of the complex interplay between injurious environmental stimuli and genetic predisposing factors of the host. Genetic susceptibility to PAD is likely contributed by sequence variants in multiple genes, each with modest effects. Although many of these variants probably alter susceptibility both to PAD and to coronary artery disease, it is likely that there exists a set of variants specifically to alter susceptibility to PAD. Despite the prevalence of PAD and its high societal burden, relatively little is known about such genetic variants. This review summarizes our limited present knowledge and gives an overview of recent, more powerful approaches to elucidating the genetic basis of PAD. We discuss the advantages and limitations of genetic studies and highlight the need for collaborative networks of PAD investigators for shedding light on this dark corner of vascular biology.

Original languageEnglish (US)
Pages (from-to)2068-2078
Number of pages11
JournalArteriosclerosis, Thrombosis, and Vascular Biology
Issue number10
StatePublished - Oct 2007


  • Atherosclerosis
  • Epidemiology
  • Genetics
  • Peripheral vascular disease

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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