Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits

被引：0

作者：

Benjamin S. Glicksberg

Letizia Amadori

Nicholas K. Akers

Katyayani Sukhavasi

Oscar Franzén

Li Li

Gillian M. Belbin

Kristin L. Akers

Khader Shameer

Marcus A. Badgeley

Kipp W. Johnson

Ben Readhead

Bruce J. Darrow

Eimear E. Kenny

Christer Betsholtz

Raili Ermel

Josefin Skogsberg

Arno Ruusalepp

Eric E. Schadt

Joel T. Dudley

Hongxia Ren

Jason C. Kovacic

Chiara Giannarelli

Shuyu D. Li

Johan L. M. Björkegren

Rong Chen

机构：

[1] Icahn School of Medicine at Mount Sinai,Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology

[2] Icahn School of Medicine at Mount Sinai,The Institute for Next Generation Healthcare

[3] Cardiovascular Research Center and Cardiovascular Institute,Department of Pathophysiology, Institute of Biomedicine and Translation Medicine

[4] Icahn School of Medicine at Mount Sinai,Department of Cardiac Surgery

[5] University of Tartu,Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet

[6] Biomeedikum,Department of Pediatrics, Herman B Wells Center for Pediatric Research, Center for Diabetes and Metabolic Diseases, Stark Neurosciences Research Institute

[7] Clinical Gene Networks AB,Bakar Computational Health Sciences Institute

[8] Charles Bronfman Institute of Personalized Medicine,undefined

[9] Icahn School of Medicine at Mount Sinai,undefined

[10] Sema4,undefined

[11] a Mount Sinai venture,undefined

[12] Department of Preventive Medicine,undefined

[13] Icahn School of Medicine at Mount Sinai,undefined

[14] Department of Immunology,undefined

[15] Genetics and Pathology,undefined

[16] Tartu University Hospital,undefined

[17] Karolinska Universitetssjukhuset Huddinge,undefined

[18] Department of Health Policy and Research,undefined

[19] Icahn School of Medicine at Mount Sinai,undefined

[20] Indiana University,undefined

[21] University of California San Francisco,undefined

[22] Integrated Cardio Metabolic Centre,undefined

[23] Department of Medicine,undefined

[24] Karolinska Institutet,undefined

[25] Novum,undefined

来源：

BMC Medical Genomics | / 12卷

关键词：

Loss-of-function variant; Cardiovascular traits; Genetic association; Integrative data analysis; Target identification and validation; Electronic Medical Records;

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摘要：

引用

共 384 条

[1]

Cohen JC(2006)Sequence variations in PCSK9, low LDL, and protection against coronary heart disease N Engl J Med 354 1264-1272

[2]

Boerwinkle E(2015)Reducing LDL with PCSK9 inhibitors--the clinical benefit of lipid drugs N Engl J Med 373 1588-1591

[3]

Mosley TH(2015)Efficacy and safety of alirocumab in reducing lipids and cardiovascular events N Engl J Med 372 1489-1499

[4]

Hobbs HH(2015)Efficacy and safety of evolocumab in reducing lipids and cardiovascular events N Engl J Med 372 1500-1509

[5]

Everett BM(2017)Evolocumab and clinical outcomes in patients with cardiovascular disease N Engl J Med 376 1713-1722

[6]

Smith RJ(2014)Inactivating mutations in NPC1L1 and protection from coronary heart disease N Engl J Med 371 2072-2082

[7]

Hiatt WR(2015)Ezetimibe added to statin therapy after acute coronary syndromes N Engl J Med 372 2387-2397

[8]

Robinson JG(2015)Developing medicines that mimic the natural successes of the human genome: lessons from NPC1L1, HMGCR, PCSK9, APOC3, and CETP J Am Coll Cardiol 65 1562-1566

[9]

Farnier M(2007)Mechanisms of disease: genetic causes of familial hypercholesterolemia Nature Clin Pract Cardiovasc Med 4 214-225

[10]

Krempf M(2005)Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins Lancet. 366 1267-1278

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