Genomics in cardiovascular disease

Journal of the American College of Cardiology

Volumn 61, Issue 20, 2013, Pages 2029-2037

  Roberts, Robert ^a,b   Marian, A J ^c   Dandona, Sonny ^d   Stewart, Alexandre F R ^a  

^a UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

^b John and Jennifer Ruddy Canadian Cardiovascular Genetics Centre   (Canada)

^c UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

data; genomics; sequence

Indexed keywords

CYTOCHROME P450 2C9; OXIDOREDUCTASE; UNCLASSIFIED DRUG; VITAMIN K EPOXIDE REDUCTASE;

ALLELE; AORTA ANEURYSM; ARTICLE; CARDIOVASCULAR DISEASE; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; CORONARY ARTERY DISEASE; CORONARY ARTERY THROMBOSIS; COST EFFECTIVENESS ANALYSIS; DNA FRAGMENTATION; DNA REPLICATION; DNA SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENE; GENE FREQUENCY; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOMICS; HEART VENTRICLE HYPERTROPHY; HERITABILITY; HUMAN; HUMAN GENOME; HYPERTROPHIC CARDIOMYOPATHY; PATENT DUCTUS ARTERIOSUS; PERICARDIAL EFFUSION; PERSONALIZED MEDICINE; PHARMACOGENETICS; PHARMACOGENOMICS; PHENOTYPE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SINGLE NUCLEOTIDE POLYMORPHISM; WOLFF PARKINSON WHITE SYNDROME;

EID: 84877755640     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2012.12.054     Document Type: Review

References (76)

1. D. Boorstin The Discoverers 1983 Random House New York, NY
2. E.S. Lander, L.M. Linton, B. Birren Initial sequencing and analysis of the human genome Nature 409 2001 860 921
3. R. Roberts, E.M. McNally Genetic basis for cardiovascular disease V. Fuster, R.A. Walsh, R.A. Harrington, Hurst's the Heart 13th edition 2011 McGraw Hill New York, NY 195 205
4. I. Dunham, A. Kundaje, S.F. Aldred An integrated encyclopedia of DNA elements in the human genome Nature 489 2012 57 74
5. P.P. Amaral, M.E. Dinger, T.R. Mercer, J.S. Mattick The eukaryotic genome as an RNA machine Science 319 2008 1787 1789
6. C. Carlson Considerations for SNP selection M.P. Winer, Genetic Variation: A Laboratory Manual 2007 Cold Spring Harbor Laboratory Press Cold Spring Harbor, NY 263 281
7. T.R. Bhangale, M.J. Rieder, R.J. Livingston, D.A. Nickerson Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes Hum Mol Genet 14 2005 59 69
8. L. Kruglyak, D. Nickerson Variation is the spice of life Nat Genet 27 2001 234 236
9. J.X. Sun, A. Helgason, G. Masson A direct characterization of human mutation based on microsatellites Nat Genet 44 2012 1161 1165
10. A.J. Marian, J. Belmont Strategic approaches to unraveling genetic causes of cardiovascular diseases Circ Res 108 2011 1252 1269
11. P.C. Ng, S. Levy, J. Huang, T.B. Stockwell Genetic variation in an individual human exome PLoS Genet 4 2008 e1000160
12. B.E.F.M. Stranger, M. Dunning, C.E. Ingle Relative impact of nucleotide and copy number variation on gene expression phenotypes Science 315 2007 848 853
13. A. Geisterfer-Lowrance, S. Kass, G. Tanigawa A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosium heavy chain missense mutation Cell 62 1990 999 1006
14. D.S. Lim, L. Oberst, M. McCluggage Decreased left ventricular ejection fraction in transgenic mice expressing mutant cardiac troponin T-Q(92), responsible for human hypertrophic cardiomyopathy J Mol Cell Cardiol 32 2000 365 374
15. A.J. Marian, Y. Wu, D.S. Lim A transgenic rabbit model for human hypertrophic cardiomyopathy J Clin Invest 104 1999 1683 1692
16. A. Hamosh, A.F. Scott, J.S. Amberger, C.A. Bocchini, V.A. McKusick Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders Nucleic Acids Res 30 2002 52 55
17. A.J. Marian, R. Brugada, R. Roberts Cardiovascular diseases caused by genetic abnormalities V. Fuster, R.A. Walsh, R.A. Harrington, Hurst's the Heart 13th edition 2011 McGraw HIll New York, NY 1783 1826
18. E. Pennisi Genome sequencing Search for pore-fection Science 336 2012 534 537
19. D.S. Herman, L. Lam, M.R. Taylor Truncations of titin causing dilated cardiomyopathy N Engl J Med 366 2012 619 628
20. I. Adzhubel, S. Schmidt, L. Peshkin A method and server for predicting damaging missense mutations Nat Methods 7 2010 248 249
21. P. Kumar, S. Henikoff, and P.C. Ng Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Nat Protoc 4 2009 1073 1081
22. A.J. Marian Challenges in medical applications of whole exome/genome sequencing discoveries Trends Cardiovasc Med 22 2012 219 223
23. N. Norton, D. Li, M.J. Rieder Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy Am J Hum Genet 88 2011 273 282
24. J.L. Theis, K.M. Sharpe, M.E. Matsumoto Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy Circ Cardiovasc Genet 4 2011 585 594
25. L. Galmiche, V. Serre, M. Beinat Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy Hum Mutat 32 2011 1225 1231
26. M. Harakalova, J.J. van Harssel, P.A. Terhal Dominant missense mutations in ABCC9 cause Cantu syndrome Nat Genet 44 2012 793 796
27. I.M. van de Laar, R.A. Oldenburg, G. Pals Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis Nat Genet 43 2011 121 126
28. I. Comino-Mendez, F.J. Gracia-Aznarez, F. Schiavi Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma Nat Genet 43 2011 663 667
29. J.T. Granados-Riveron, T.K. Ghosh, M. Pope Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects Hum Mol Genet 19 2010 4007 4016
30. B. Meder, J. Haas, A. Keller Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies Circ Cardiovasc Genet 4 2011 110 122
31. L. Chan, E. Boerwinkle Gene-environment Interactions and gene therapy in atherosclerosis Cardiol Rev 2 1994 130 137
32. R. Roberts A customized genetic approach to the number one killer: coronary artery disease Curr Opin Cardiol 23 2008 629 633
33. L. Kruglyak Prospects for whole-genome linkage disequilibrium mapping of common disease genes Nat Genet 22 1999 139 144
34. The International HapMap Consortium A haplotype map of the human genome Nature 437 2005 1299 1320
35. R. Roberts, A.F. Stewart, G.A. Wells Identifying genes for coronary artery disease: An idea whose time has come Can J Cardiol 23 Suppl A 2007 7A 15A
36. R. McPherson, A. Pertsemlidis, N. Kavaslar A common allele on chromosome 9 associated with coronary heart disease Science 316 2007 1488 1491
37. A. Helgadottir, G. Thorleifsson, A. Manolescu A common variant on chromosome 9p21 affects the risk of myocardial infarction Science 316 2007 1491 1493
38. M. Preuss, I.R. Konig, J.R. Thompson 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 Circ Cardiovasc Genet 3 2010 475 483
39. R. Roberts, A.F. Stewart Genes and coronary artery disease: Where are we? J Am Coll Cardiol 60 2012 1715 1721
40. The CARDIoGRAMplusC4D Consortium Coronary artery disease risk loci identified in over 190,000 individuals implicate lipid metabolism and inflammation as key causal pathways Nat Genet 45 2013 25 33
41. F. Dudbridge, A. Gusnanto Estimation of significance thresholds for genomewide association scans Genet Epidemiol 32 2008 227 234
42. A. Califano, A.J. Butte, S. Friend Leveraging models of cell regulation and GWAS data in integrative network-based association studies Nat Genet 44 2012 841 847
43. H. Zhong, X. Yang, L.M. Kaplan Integrating pathway analysis and genetics of gene expression for genome-wide association studies Am J Hum Genet 86 2010 581 591
44. T. Ravasi, H. Suzuki, C.V. Cannistraci An atlas of combinatorial transcriptional regulation in mouse and man Cell 140 2010 744 752
45. T.A. Manolio, F.S. Collins, N.J. Cox Finding the missing heritability of complex diseases Nature 461 2009 747 753
46. J.A. Tennessen, A.W. Bigham, T.D. O'Connor Evolution and functional impact of rare coding variation from deep sequencing of human exomes Science 337 2012 64 69
47. M.R. Nelson, D. Wegmann, M.G. Ehm An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people Science 337 2012 100 104
48. F.E. Dewey, S. Pan, M.T. Wheeler DNA sequencing: clinical applications of new DNA sequencing technologies Circulation 125 2012 931 944
49. M.H. Gollob, M.S. Green, A.S. Tang Identification of a gene responsible for familial Wolff-Parkinson-White syndrome N Engl J Med 344 2001 1823 1831
50. J.S. Sidhu, Y.S. Rajawat, T.G. Rami Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome Circulation 111 2005 21 29
51. L.A. Hindorff, P. Sethupathy, H.A. Junkins Potential etiologic and functional implications of genome-wide association loci for human diseases and traits Proc Natl Acad Sci U S A 106 2009 9362 9367
52. A. Kiezun, K. Garimella, R. Do Exome sequencing and the genetic basis of complex traits Nat Genet 44 2012 623 630
53. M.S. Brown, J.L. Goldstein Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man Science 185 1974 61 63
54. J. Shepherd, S.M. Cobbe, I. Ford Prevention of coronary heart disease with pravastatin in men with hypercholesterolemia N Engl J Med 333 1995 1301 1308
55. E.A. Stein, S. Mellis, G.D. Yancopoulos Effect of a monoclonal antibody to PCSK9 on LDL cholesterol N Engl J Med 366 2012 1108 1118
56. P.M. Visscher, M.A. Brown, M.I. McCarthy, J. Yang Five years of GWAS discovery Am J Hum Genet 90 2012 7 24
57. J. Yang, B. Benyamin, B.P. McEvoy Common SNPs explain a large proportion of the heritability for human height Nat Genet 42 2010 565 569
58. M.A. Simonson, A.G. Wills, M.C. Keller, M.B. McQueen Recent methods for polygenic analysis of genome-wide data implicate an important effect of common variants on cardiovascular disease risk BMC Med Genet 12 2011 146
59. O. Zuk, E. Hechter, S.R. Sunyaev, E.S. Lander The mystery of missing heritability: Genetic interactions create phantom heritability Proc Natl Acad Sci U S A 109 2012 1193 1198
60. L. Wallentin, S. James, R.F. Storey Effect of CYP2C19 and ABCB1 single nucleotide polymorphisms on outcomes of treatment with ticagrelor versus clopidogrel for acute coronary syndromes: a genetic substudy of the PLATO trial Lancet 376 2010 1320 1328
61. J.L. Mega, S.L. Close, S.D. Wiviott Cytochrome p-450 polymorphisms and response to clopidogrel N Engl J Med 360 2009 354 362
62. J.D. Roberts, G.A. Wells, M.R. Le May Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial Lancet 379 2012 1705 1711
63. J.F. Carlquist, J.L. Anderson Using pharmacogenetics in real time to guide warfarin initiation: a clinician update Circulation 124 2011 2554 2559
64. J.L. Anderson, B.D. Horne, S.M. Stevens A randomized and clinical effectiveness trial comparing two pharmacogenetic algorithms and standard care for individualizing warfarin dosing (CoumaGen-II) Circulation 125 2012 1997 2005
65. E. Link, S. Parish, J. Armitage The SEARCH Collaborative Group SLCO1B1 variants and statin-induced myopathy-a genomewide study N Engl J Med 359 2008 789 799
66. S. Levy, G. Sutton, P.C. Ng The diploid genome sequence of an individual human PLoS Biol 5 2007 e254
67. E.C. Hayden Secrets of the human genome disclosed Nature 478 2011 17
68. L.R. Brunham, M.R. Hayden Medicine Whole-genome sequencing: the new standard of care? Science 336 2012 1112 1113
69. R. Drmanac Medicine The ultimate genetic test Science 336 2012 1110 1112
70. B.A. Peters, B.G. Kermani, A.B. Sparks Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells Nature 487 2012 190 195
71. R.B. Schnabel, A. Baccarelli, H. Lin Next steps in cardiovascular disease genomic research - sequencing, epigenetics, and transcriptomics Clin Chem 58 2012 113 126
72. C.A. McCarty, R.L. Chisholm, C.G. Chute The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies BMC Med Genomics 4 2011 13
73. L.D. Stein The case for cloud computing in genome informatics Genome Biol 11 2010 207
74. D.R. Zerbino, B. Paten, D. Haussler Integrating genomes Science 336 2012 179 182
75. R.Y.M. DeSalle After the genome: where should we go? R. DeSalle, Y. Yudell, The Genomic Revolution: Unveiling the Unity of Life 2002 Joseph Henry Press Washington, DC 64 74
76. S. Firestein Ignorance: How it Drives Science 2012 Oxford University Oxford, England