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心脏病的分子生物学

Molecular biology of heart disease.

作者信息

Roberts Robert

机构信息

Robert Roberts, Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, 40 Ruskin Street, Ottawa, Ontario, K1Y 4W7, Canada.

出版信息

World J Cardiol. 2011 Apr 26;3(4):121-6. doi: 10.4330/wjc.v3.i4.121.

DOI:10.4330/wjc.v3.i4.121
PMID:21526050
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3082736/
Abstract

Dr. Robert Roberts is currently Professor of Medicine and Director of the Ruddy Canadian Cardiovascular Genetics Centre along with being President and CEO of the University of Ottawa Heart Institute. Prior to this appointment, he was Chief of Cardiology for 23 years at Baylor College of Medicine, Houston, Texas. His original research was in cardiac enzymology which led to the development of the MBCK test which was the standard diagnostic assay for myocardial infarction for more than 3 decades. In the late 1970s, his research interests switched to molecular biology and the genetics of cardiomyopathies. He is regarded as one of the founders of molecular cardiology and has identified and sequenced more than 20 genes responsible for cardiovascular disorders. In the past 6 years, he has pursued genome-wide association studies to identify genes predisposing to coronary artery disease (CAD) and myocardial infarction. The first genetic variant for CAD, 9p21, was identified by Dr. Robert's laboratory and, in collaboration with the international consortium, CARDIoGRAM, has identified 13 novel genes for CAD.

摘要

罗伯特·罗伯茨博士现任医学教授、鲁迪加拿大心血管遗传学中心主任,同时担任渥太华大学心脏研究所所长兼首席执行官。在此任职之前,他在得克萨斯州休斯敦的贝勒医学院担任了23年的心脏病学主任。他最初的研究领域是心脏酶学,由此开发出了MBCK检测法,该检测法在30多年的时间里一直是心肌梗死的标准诊断方法。20世纪70年代末,他的研究兴趣转向分子生物学和心肌病遗传学。他被视为分子心脏病学的创始人之一,已经鉴定并测序了20多个导致心血管疾病的基因。在过去6年里,他开展了全基因组关联研究,以确定易患冠状动脉疾病(CAD)和心肌梗死的基因。CAD的首个遗传变异体9p21是由罗伯特博士的实验室鉴定出来的,并且通过与国际财团CARDIoGRAM合作,已经确定了13个新的CAD相关基因。

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本文引用的文献

1
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.大规模关联分析确定了 13 个冠心病新的易感性位点。
Nat Genet. 2011 Mar 6;43(4):333-8. doi: 10.1038/ng.784.
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Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.鉴定 ADAMTS7 为冠状动脉粥样硬化的新位点,以及在存在冠状动脉粥样硬化的情况下 ABO 与心肌梗死的关联:两项全基因组关联研究。
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Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls.冠状动脉疾病全基因组复制与荟萃分析(CARDIoGRAM)研究设计:一项涉及超过22000例病例和60000例对照的全基因组关联荟萃分析。
Circ Cardiovasc Genet. 2010 Oct;3(5):475-83. doi: 10.1161/CIRCGENETICS.109.899443. Epub 2010 Oct 5.
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Nature. 2010 Aug 5;466(7307):707-13. doi: 10.1038/nature09270.
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Gene dosage of the common variant 9p21 predicts severity of coronary artery disease.常见变异 9p21 的基因剂量可预测冠状动脉疾病的严重程度。
J Am Coll Cardiol. 2010 Aug 3;56(6):479-86. doi: 10.1016/j.jacc.2009.10.092.
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Genome-wide association studies of hypertension: have they been fruitful?高血压的全基因组关联研究:是否硕果累累?
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Genome-wide association studies--data generation, storage, interpretation, and bioinformatics.全基因组关联研究——数据生成、存储、解释和生物信息学。
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Personalized medicine: a reality within this decade.个性化医学:十年内成为现实。
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9
Genomics in coronary artery disease: past, present and future.冠心病的基因组学:过去、现在和未来。
Can J Cardiol. 2010 Mar;26 Suppl A:56A-59A. doi: 10.1016/s0828-282x(10)71064-3.
10
Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.由AMPK的PRKAG2 R302Q突变体表达所导致的独特早期信号事件,促成了心肌糖原增加。
Circ Cardiovasc Genet. 2009 Oct;2(5):457-66. doi: 10.1161/CIRCGENETICS.108.834564. Epub 2009 Jul 15.