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Cardiol Rev. 2019 May/Jun;27(3):145-152. doi: 10.1097/CRD.0000000000000231.

Searching for the Genetic Determinants of Peripheral Arterial Disease: A Review of the Literature and Future Directions.

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From the Division of Cardiology, Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX.
Department of Epidemiology, Human Genetics & Environmental Sciences, University of Texas-Houston School of Public Health, Brownsville, TX.


Peripheral arterial disease (PAD) is a significant but under-recognized disease that is poorly understood despite population-scale genetic studies. To address this morbid disease, clinicians need additional tools to identify, prevent, and treat patients at risk for PAD. Genetic studies of coronary artery disease have yielded promising results for clinical application, which have thus far been lacking in PAD. In this article, we review recent findings, discuss limitations, and propose future directions of genomic study and clinical application. However, despite many studies, we still lack definitive genetic markers for PAD. This can be attributed to the heterogeneity of PAD's pathogenesis and clinical manifestations, as well as inconsistencies in study methodologies, limitations of current genetic assessment techniques, incompletely comprehended molecular pathophysiology, and confounding generalized atherosclerotic risk factors. The goals of this review are to evaluate the limitations of our current genetic knowledge of PAD and to propose approaches to expedite the identification of valuable markers of PAD.

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