Kullo IJ, Leeper NJ, et al.
Circulation research. Date of publication 2015 Apr 24;volume 116(9):1551-60.
1. Circ Res. 2015 Apr 24;116(9):1551-60. doi: 10.1161/CIRCRESAHA.116.303518.
The genetic basis of peripheral arterial disease: current knowledge, challenges,
and future directions.
Kullo IJ(1), Leeper NJ(2).
Author information:
(1)From the Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN
(I.J.K.); and Department of Vascular Surgery, Stanford, Stanford, CA (N.J.L.).
kullo.iftikhar@mayo.edu.
(2)From the Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN
(I.J.K.); and Department of Vascular Surgery, Stanford, Stanford, CA (N.J.L.).
Several risk factors for atherosclerotic peripheral arterial disease (PAD), such
as dyslipidemia, diabetes mellitus, and hypertension, are heritable. However,
predisposition to PAD may be influenced by genetic variants acting independently
of these risk factors. Identification of such genetic variants will provide
insights into underlying pathophysiologic mechanisms and facilitate the
development of novel diagnostic and therapeutic approaches. In contrast to
coronary heart disease, relatively few genetic variants that influence
susceptibility to PAD have been discovered. This may be, in part, because of
greater clinical and genetic heterogeneity in PAD. In this review, we (1) provide
an update on the current state of knowledge about the genetic basis of PAD,
including results of family studies and candidate gene, linkage as well as
genome-wide association studies; (2) highlight the challenges in investigating
the genetic basis of PAD and possible strategies to overcome these challenges;
and (3) discuss the potential of genome sequencing, RNA sequencing, differential
gene expression, epigenetic profiling, and systems biology in increasing our
understanding of the molecular genetics of PAD.
© 2015 American Heart Association, Inc.
DOI: 10.1161/CIRCRESAHA.116.303518
PMCID: PMC4410432
PMID: 25908728 [Indexed for MEDLINE]
