Malcolm Randall VA Medical Center, Gainesville, FL (D.K.).
Division of Vascular Surgery and Endovascular Therapy, University of Florida College of Medicine, Gainesville (D.K.).
Circ Res. 2021 Jun 11;128(12):1805-1817. doi: 10.1161/CIRCRESAHA.121.318327. Epub 2021 Jun 10.
Peripheral artery disease-atherosclerosis of the abdominal aorta and lower extremity vascular bed-is a complex disease with both environmental and genetic determinants. Unmitigated disease is associated with major functional decline and can lead to chronic limb-threatening ischemia, amputation, and increased mortality. Over the last 10 years, major advances have been made in identifying the genetic basis of this common, complex disease. In this review, we provide an overview of the primary types of genetic analyses performed for peripheral artery disease, including heritability and linkage studies, and more recently biobank-based genome-wide association studies. Looking forward, we highlight areas of future study including efforts to identify causal peripheral artery disease genes, rare variant and structural variant analyses using whole-exome and whole-genome sequencing data, and the need to include individuals of diverse genetic ancestries.
外周动脉疾病-腹主动脉和下肢血管床的动脉粥样硬化-是一种具有环境和遗传决定因素的复杂疾病。未经治疗的疾病与主要功能下降有关，并可导致慢性肢体缺血性疾病、截肢和死亡率增加。在过去的 10 年中，在外周动脉疾病的遗传基础鉴定方面取得了重大进展。在这篇综述中，我们概述了用于外周动脉疾病的主要类型的遗传分析，包括遗传性和连锁研究，以及最近基于生物库的全基因组关联研究。展望未来，我们强调了未来研究的领域，包括努力识别因果外周动脉疾病基因、使用全外显子组和全基因组测序数据的罕见变异和结构变异分析，以及需要纳入具有不同遗传背景的个体。
