Genetic Determinants of Peripheral Artery Disease

被引：15

作者：

Klarin, Derek ^{[1
,2
,3
,4
]}

Tsao, Philip S. ^{[5
,6
]}

Damrauer, Scott M. ^{[7
,8
]}

机构：

[1] Malcolm Randall VA Med Ctr, Gainesville, FL USA

[2] Univ Florida, Coll Med, Div Vasc Surg & Endovasc Therapy, Gainesville, FL USA

[3] Harvard Med Sch, Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02115 USA

[4] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA

[5] VA Palo Alto Hlth Care Syst, Palo Alto, CA USA

[6] Stanford Univ, Sch Med, Dept Med, Div Cardiovasc Med, Stanford, CA 94305 USA

[7] Corporal Michael J Crescenz VA Med Ctr, Philadelphia, PA USA

[8] Univ Penn, Perlman Sch Med, Dept Surg, Philadelphia, PA 19104 USA

来源：

CIRCULATION RESEARCH | 2021年 / 128卷 / 12期

关键词：

atherosclerosis; clonal hematopoiesis; genetics; genome-wide association study; peripheral artery disease; GENOME-WIDE ASSOCIATION; ANKLE-BRACHIAL INDEX; CLONAL HEMATOPOIESIS; SEQUENCE VARIANT; FAMILY-HISTORY; RISK; LOCI; METAANALYSIS; MUTATION; HEART;

D O I：

10.1161/CIRCRESAHA.121.318327

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1805 / 1817

页数：13

共 82 条

[1] The GTEx Consortium atlas of genetic regulatory effects across human tissues [J].

Aguet, Francois ;

Barbeira, Alvaro N. ;

Bonazzola, Rodrigo ;

Brown, Andrew ;

Castel, Stephane E. ;

Jo, Brian ;

Kasela, Silva ;

Kim-Hellmuth, Sarah ;

Liang, Yanyu ;

Parsana, Princy ;

Flynn, Elise ;

Fresard, Laure ;

Gamazon, Eric R. ;

Hamel, Andrew R. ;

He, Yuan ;

Hormozdiari, Farhad ;

Mohammadi, Pejman ;

Munoz-Aguirre, Manuel ;

Ardlie, Kristin G. ;

Battle, Alexis ;

Bonazzola, Rodrigo ;

Brown, Christopher D. ;

Cox, Nancy ;

Dermitzakis, Emmanouil T. ;

Engelhardt, Barbara E. ;

Garrido-Martin, Diego ;

Gay, Nicole R. ;

Getz, Gad ;

Guigo, Roderic ;

Hamel, Andrew R. ;

Handsaker, Robert E. ;

He, Yuan ;

Hoffman, Paul J. ;

Hormozdiari, Farhad ;

Im, Hae Kyung ;

Jo, Brian ;

Kasela, Silva ;

Kashin, Seva ;

Kim-Hellmuth, Sarah ;

Kwong, Alan ;

Lappalainen, Tuuli ;

Li, Xiao ;

Liang, Yanyu ;

MacArthur, Daniel G. ;

Mohammadi, Pejman ;

Montgomery, Stephen B. ;

Munoz-Aguirre, Manuel ;

Rouhana, John M. ;

Hormozdiari, Farhad ;

Im, Hae Kyung .

SCIENCE, 2020, 369 (6509) :1318-1330

[2] Rivaroxaban with or without aspirin in patients with stable peripheral or carotid artery disease: an international, randomised, double-blind, placebo-controlled trial [J].

Anand, Sonia S. ;

Bosch, Jackie ;

Eikelboom, John W. ;

Connolly, Stuart J. ;

Diaz, Rafael ;

Widimsky, Peter ;

Aboyans, Victor ;

Alings, Marco ;

Kakkar, Ajay K. ;

Keltai, Katalin ;

Maggioni, Aldo P. ;

Lewis, Basil S. ;

Stoerk, Stefan ;

Zhu, Jun ;

Lopez-Jaramillo, Patricio ;

O'Donnell, Martin ;

Commerford, Patrick J. ;

Vinereanu, Dragos ;

Pogosova, Nana ;

Ryden, Lars ;

Fox, Keith A. A. ;

Bhatt, Deepak L. ;

Misselwitz, Frank ;

Varigos, John D. ;

Vanassche, Thomas ;

Avezum, Alvaro A. ;

Chen, Edmond ;

Branch, Kelley ;

Leong, Darryl P. ;

Bangdiwala, Shrikant I. ;

Hart, Robert G. ;

Yusuf, Salim .

LANCET, 2018, 391 (10117) :219-229

[3]

[Anonymous], 2018, CIRCULATION

[4] Race and Socioeconomic Status Independently Affect Risk of Major Amputation in Peripheral Artery Disease [J].

Arya, Shipra ;

Binney, Zachary ;

Khakharia, Anjali ;

Brewster, Luke P. ;

Goodney, Phil ;

Patzer, Rachel ;

Hockenberry, Jason ;

Wilson, Peter W. F. .

JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2018, 7 (02)

[5] FINEMAP: efficient variable selection using summary data from genome-wide association studies [J].

Benner, Christian ;

Spencer, Chris C. A. ;

Havulinna, Aki S. ;

Salomaa, Veikko ;

Ripatti, Samuli ;

Pirinen, Matti .

BIOINFORMATICS, 2016, 32 (10) :1493-1501

[6] MUTATION IN BLOOD-COAGULATION FACTOR-V ASSOCIATED WITH RESISTANCE TO ACTIVATED PROTEIN-C [J].

BERTINA, RM ;

KOELEMAN, BPC ;

KOSTER, T ;

ROSENDAAL, FR ;

DIRVEN, RJ ;

DERONDE, H ;

VANDERVELDEN, PA ;

REITSMA, PH .

NATURE, 1994, 369 (6475) :64-67

[7] Inherited causes of clonal haematopoiesis in 97,691 whole genomes [J].

Bick, Alexander G. ;

Weinstock, Joshua S. ;

Nandakumar, Satish K. ;

Fulco, Charles P. ;

Bao, Erik L. ;

Zekavat, Seyedeh M. ;

Szeto, Mindy D. ;

Liao, Xiaotian ;

Leventhal, Matthew J. ;

Nasser, Joseph ;

Chang, Kyle ;

Laurie, Cecelia ;

Burugula, Bala Bharathi ;

Gibson, Christopher J. ;

Lin, Amy E. ;

Taub, Margaret A. ;

Aguet, Francois ;

Ardlie, Kristin ;

Mitchell, Braxton D. ;

Barnes, Kathleen C. ;

Moscati, Arden ;

Fornage, Myriam ;

Redline, Susan ;

Psaty, Bruce M. ;

Silverman, Edwin K. ;

Weiss, Scott T. ;

Palmer, Nicholette D. ;

Vasan, Ramachandran S. ;

Burchard, Esteban G. ;

Kardia, Sharon L. R. ;

He, Jiang ;

Kaplan, Robert C. ;

Smith, Nicholas L. ;

Arnett, Donna K. ;

Schwartz, David A. ;

Correa, Adolfo ;

de Andrade, Mariza ;

Guo, Xiuqing ;

Konkle, Barbara A. ;

Custer, Brian ;

Peralta, Juan M. ;

Gui, Hongsheng ;

Meyers, Deborah A. ;

McGarvey, Stephen T. ;

Chen, Ida Yii-Der ;

Shoemaker, M. Benjamin ;

Peyser, Patricia A. ;

Broome, Jai G. ;

Gogarten, Stephanie M. ;

Wang, Fei Fei .

NATURE, 2020, 586 (7831) :763-+

[8] Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data [J].

Burgess, Stephen ;

Butterworth, Adam ;

Thompson, Simon G. .

GENETIC EPIDEMIOLOGY, 2013, 37 (07) :658-665

[9]

Carmelli D, 2000, AM J EPIDEMIOL, V151, P452

[10] Sequence variations in PCSK9, low LDL, and protection against coronary heart disease [J].

Cohen, JC ;

Boerwinkle, E ;

Mosley, TH ;

Hobbs, HH .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (12) :1264-1272

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