Human Genomics in Cardiovascular Medicine - Implications and Perspectives

被引：7
作者：
Morita, Hiroyuki [1 ]
机构：
[1] Univ Tokyo, Grad Sch Med, Dept Translat Res Healthcare & Clin Sci, Tokyo 1138655, Japan
来源：
CIRCULATION JOURNAL | 2013年 / 77卷 / 04期
关键词：
Clinical application; Genetic variant; Genome-wide association study (GWAS); Human genomics; CORONARY-ARTERY-DISEASE; GENETIC RISK SCORE; WIDE ASSOCIATION; HEART-DISEASE; HYPERTROPHIC CARDIOMYOPATHY; MYOCARDIAL-INFARCTION; JAPANESE PATIENTS; AORTIC-ANEURYSM; MUTATIONS; PCSK9;
D O I：
10.1253/circj.CJ-13-0126
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
For the past 10 years in the post-genomic era, emerging technologies in human genomic research have provided us with a plethora of genetic variations implicated in the pathogenesis of cardiovascular diseases. Discovering the key target genes in genomic research has contributed to biomedical research on the mechanical pathways of the diseases. In an era with dramatic development of brand new strategies, the conventional evaluation of family aggregation, environmental exposure and clinical phenotype remains of great importance to promote genomic research. Notwithstanding the promising progress in genomic research, we still have an enormous number of issues to overcome before approaching the ultimate goal of human genomics: the successful application of genomic data to personalized medicine. (Circ J 2013; 77: 876-885)
引用
收藏
页码：876 / 885
页数：10
相关论文
共 86 条
  • [1] Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
    Abifadel, M
    Varret, M
    Rabès, JP
    Allard, D
    Ouguerram, K
    Devillers, M
    Cruaud, C
    Benjannet, S
    Wickham, L
    Erlich, D
    Derré, A
    Villéger, L
    Farnier, M
    Beucler, I
    Bruckert, E
    Chambaz, J
    Chanu, B
    Lecerf, JM
    Luc, G
    Moulin, P
    Weissenbach, J
    Prat, A
    Krempf, M
    Junien, C
    Seidah, NG
    Boileau, C
    [J]. NATURE GENETICS, 2003, 34 (02) : 154 - 156
  • [2] A haplotype map of the human genome
    Altshuler, D
    Brooks, LD
    Chakravarti, A
    Collins, FS
    Daly, MJ
    Donnelly, P
    Gibbs, RA
    Belmont, JW
    Boudreau, A
    Leal, SM
    Hardenbol, P
    Pasternak, S
    Wheeler, DA
    Willis, TD
    Yu, FL
    Yang, HM
    Zeng, CQ
    Gao, Y
    Hu, HR
    Hu, WT
    Li, CH
    Lin, W
    Liu, SQ
    Pan, H
    Tang, XL
    Wang, J
    Wang, W
    Yu, J
    Zhang, B
    Zhang, QR
    Zhao, HB
    Zhao, H
    Zhou, J
    Gabriel, SB
    Barry, R
    Blumenstiel, B
    Camargo, A
    Defelice, M
    Faggart, M
    Goyette, M
    Gupta, S
    Moore, J
    Nguyen, H
    Onofrio, RC
    Parkin, M
    Roy, J
    Stahl, E
    Winchester, E
    Ziaugra, L
    Shen, Y
    [J]. NATURE, 2005, 437 (7063) : 1299 - 1320
  • [3] A map of human genome variation from population-scale sequencing
    Altshuler, David
    Durbin, Richard M.
    Abecasis, Goncalo R.
    Bentley, David R.
    Chakravarti, Aravinda
    Clark, Andrew G.
    Collins, Francis S.
    De la Vega, Francisco M.
    Donnelly, Peter
    Egholm, Michael
    Flicek, Paul
    Gabriel, Stacey B.
    Gibbs, Richard A.
    Knoppers, Bartha M.
    Lander, Eric S.
    Lehrach, Hans
    Mardis, Elaine R.
    McVean, Gil A.
    Nickerson, DebbieA.
    Peltonen, Leena
    Schafer, Alan J.
    Sherry, Stephen T.
    Wang, Jun
    Wilson, Richard K.
    Gibbs, Richard A.
    Deiros, David
    Metzker, Mike
    Muzny, Donna
    Reid, Jeff
    Wheeler, David
    Wang, Jun
    Li, Jingxiang
    Jian, Min
    Li, Guoqing
    Li, Ruiqiang
    Liang, Huiqing
    Tian, Geng
    Wang, Bo
    Wang, Jian
    Wang, Wei
    Yang, Huanming
    Zhang, Xiuqing
    Zheng, Huisong
    Lander, Eric S.
    Altshuler, David L.
    Ambrogio, Lauren
    Bloom, Toby
    Cibulskis, Kristian
    Fennell, Tim J.
    Gabriel, Stacey B.
    [J]. NATURE, 2010, 467 (7319) : 1061 - 1073
  • [4] Genetics and Cardiovascular Disease A Policy Statement From the American Heart Association
    Ashley, Euan A.
    Hershberger, Ray E.
    Caleshu, Colleen
    Ellinor, Patrick T.
    Garcia, Joe G. N.
    Herrington, David M.
    Ho, Carolyn Y.
    Johnson, Julie A.
    Kittner, Steven J.
    MacRae, Calum A.
    Mudd-Martin, Gia
    Rader, Daniel J.
    Roden, Dan M.
    Scholes, Derek
    Sellke, Frank W.
    Towbin, Jeffrey A.
    Van Eyk, Jennifer
    Worrall, Bradford B.
    [J]. CIRCULATION, 2012, 126 (01) : 142 - 157
  • [5] Cardiovascular Epigenetics Basic Concepts and Results From Animal and Human Studies
    Baccarelli, Andrea
    Rienstra, Michiel
    Benjamin, Emelia J.
    [J]. CIRCULATION-CARDIOVASCULAR GENETICS, 2010, 3 (06) : 567 - 573
  • [6] Molecular Signals of Epigenetic States
    Bonasio, Roberto
    Tu, Shengjiang
    Reinberg, Danny
    [J]. SCIENCE, 2010, 330 (6004) : 612 - 616
  • [7] Impact of Adding a Single Allele in the 9p21 Locus to Traditional Risk Factors on Reclassification of Coronary Heart Disease Risk and Implications for Lipid-Modifying Therapy in the Atherosclerosis Risk in Communities Study
    Brautbar, Ariel
    Ballantyne, Christie M.
    Lawson, Kim
    Nambi, Vijay
    Chambless, Lloyd
    Folsom, Aaron R.
    Willerson, James T.
    Boerwinkle, Eric
    [J]. CIRCULATION-CARDIOVASCULAR GENETICS, 2009, 2 (03) : 279 - U175
  • [8] Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
    Carvajal-Vergara, Xonia
    Sevilla, Ana
    D'Souza, Sunita L.
    Ang, Yen-Sin
    Schaniel, Christoph
    Lee, Dung-Fang
    Yang, Lei
    Kaplan, Aaron D.
    Adler, Eric D.
    Rozov, Roye
    Ge, YongChao
    Cohen, Ninette
    Edelmann, Lisa J.
    Chang, Betty
    Waghray, Avinash
    Su, Jie
    Pardo, Sherly
    Lichtenbelt, Klaske D.
    Tartaglia, Marco
    Gelb, Bruce D.
    Lemischka, Ihor R.
    [J]. NATURE, 2010, 465 (7299) : 808 - U12
  • [9] Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    Cohen, JC
    Boerwinkle, E
    Mosley, TH
    Hobbs, HH
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (12) : 1264 - 1272
  • [10] Multiple rare Alleles contribute to low plasma levels of HDL cholesterol
    Cohen, JC
    Kiss, RS
    Pertsemlidis, A
    Marcel, YL
    McPherson, R
    Hobbs, HH
    [J]. SCIENCE, 2004, 305 (5685) : 869 - 872
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