Cardiovascular genetics: technological advancements and applicability for dilated cardiomyopathy

被引：4

作者：

Kummeling, G. J. M. ^{[1
]}

Baas, A. F. ^{[2
]}

Harakalova, M. ^{[1
]}

van der Smagt, J. J. ^{[2
]}

Asselbergs, F. W. ^{[1
,3
,4
]}

机构：

[1] Univ Med Ctr Utrecht, Dept Cardiol, Div Heart & Lungs, NL-3508 GA Utrecht, Netherlands

[2] Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 GA Utrecht, Netherlands

[3] ICIN Netherlands Heart Inst, Durrer Ctr Cardiogenet Res, Utrecht, Netherlands

[4] UCL, Fac Populat Hlth Sci, Inst Cardiovasc Sci, London, England

来源：

NETHERLANDS HEART JOURNAL | 2015年 / 23卷 / 7-8期

关键词：

Genetics; Cardiology; Cardiomyopathy; Dilated; Review; ARRHYTHMOGENIC CARDIOMYOPATHY; SUDDEN-DEATH; MUTATIONS; GENERATION; DISEASE; HEART; RISK; INHERITANCE; CHROMOSOME; MECHANISMS;

D O I：

10.1007/s12471-015-0700-y

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008, both capacity and cost-efficiency of mutation screening of DNA have been increased magnificently due to the technological advancement obtained by next-generation sequencing. Hence, the discovery rate of genetic defects in cardiovascular genetics has grown rapidly and the financial threshold for gene diagnostics has been lowered, making largescale DNA sequencing broadly accessible. In this review, the genetic variants, mutations and inheritance models are briefly introduced, after which an overview is provided of current clinical and technological applications in gene diagnostics and research for cardiovascular disease and in particular, dilated cardiomyopathy. Finally, a reflection on the future perspectives in cardiogenetics is given.

引用

页码：356 / 362

页数：7

共 42 条

[1] HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies [J].

Ackerman, Michael J. ;

Priori, Silvia G. ;

Willems, Stephan ;

Berul, Charles ;

Brugada, Ramon ;

Calkins, Hugh ;

Camm, A. John ;

Ellinor, Patrick T. ;

Gollob, Michael ;

Hamilton, Robert ;

Hershberger, Ray E. ;

Judge, Daniel P. ;

Le Marec, Herve ;

McKenna, William J. ;

Schulze-Bahr, Eric ;

Semsarian, Chris ;

Towbin, Jeffrey A. ;

Watkins, Hugh ;

Wilde, Arthur ;

Wolpert, Christian ;

Zipes, Douglas P. .

EUROPACE, 2011, 13 (08) :1077-1109

[2] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[3] New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants [J].

Andreasen, Charlotte ;

Nielsen, Jonas B. ;

Refsgaard, Lena ;

Holst, Anders G. ;

Christensen, Alex H. ;

Andreasen, Laura ;

Sajadieh, Ahmad ;

Haunso, Stig ;

Svendsen, Jesper H. ;

Olesen, Morten S. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (09) :918-928

[4]

[Anonymous], 2014, BIOTECHNOLOGY

[5] Next-generation sequencing in the clinic: are we ready? [J].

Biesecker, Leslie G. ;

Burke, Wylie ;

Kohane, Isaac ;

Plon, Sharon E. ;

Zimmern, Ron .

NATURE REVIEWS GENETICS, 2012, 13 (11) :818-824

[6]

Charron P, 2013, ARCH CARDIOVASCULA S, V5, P19

[7]

Cooper David N, 2006, Curr Protoc Bioinformatics, VChapter 1, DOI 10.1002/0471250953.bi0113s12

[8] Inheritance of most X-linked traits is not dominant or recessive, just X-linked [J].

Dobyns, WB ;

Filauro, A ;

Tomson, BN ;

Chan, AS ;

Ho, AW ;

Ting, NT ;

Oosterwijk, JC ;

Ober, C .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (02) :136-143

[9] Genetics and tailored therapy in cardiovascular disease [J].

Doevendans, P. A. ;

Asselbergs, F. W. .

NETHERLANDS HEART JOURNAL, 2012, 20 (01) :3-4

[10]

FREESE E., 1959, PROC NATL ACAD SCI, V45, P622, DOI 10.1073/pnas.45.4.622

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