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;

D O I：

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摘要：

引用

共 384 条

[51]

Nicoletti P(2008)A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection Science 322 1702-343

[52]

Shen Y(2002)Leptin modulates the effects of acyl CoA:diacylglycerol acyltransferase deficiency on murine fur and sebaceous glands J Clin Invest 109 175-4684

[53]

MacArthur DG(2000)Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat Nat Genet 25 87-undefined

[54]

Balasubramanian S(2004)Lipopenia and skin barrier abnormalities in DGAT2-deficient mice J Biol Chem 279 11767-undefined

[55]

Frankish A(2013)Current status of the research and development of diacylglycerol O-acyltransferase 1 (DGAT1) inhibitors J Med Chem 56 9820-undefined

[56]

Huang N(2014)Diacylglycerol acyltransferase 1 inhibition with AZD7687 alters lipid handling and hormone secretion in the gut with intolerable side effects: a randomized clinical trial Diabetes Obes Metab 16 334-undefined

[57]

Morris J(2012)DGAT1 mutation is linked to a congenital diarrheal disorder J Clin Invest 122 4680-undefined

[58]

Walter K(2016)Genetic identification of familial hypercholesterolemia within a single U.S. health care system Science 354 aaf7000-undefined

[59]

Sulem P(undefined)undefined undefined undefined undefined-undefined

[60]

Helgason H(undefined)undefined undefined undefined undefined-undefined

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