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Volumn 5, Issue 1, 2014, Pages 214-234

Genetic profiling for risk reduction in human cardiovascular disease

Author keywords

Cardiovascular disease; Genetic profiling; Next generation sequencing; Whole genome sequencing

Indexed keywords

CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CONGESTIVE CARDIOMYOPATHY; COPY NUMBER VARIATION; CORONARY ARTERY DISEASE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENETIC PROFILING; GENETIC RISK; GENETIC VARIABILITY; HERITABILITY; HUMAN; LONG QT SYNDROME; MONOGENIC DISORDER; NEXT GENERATION SEQUENCING; PHENOTYPE; REVIEW; RISK REDUCTION; SENSITIVITY ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING;

EID: 84897547365     PISSN: None     EISSN: 20734425     Source Type: Journal    
DOI: 10.3390/genes5010214     Document Type: Review
Times cited : (12)

References (106)
  • 2
    • 0028330005 scopus 로고
    • Genetic susceptibility to death from coronary heart disease in a study of twins
    • Marenberg, M. E.; Risch, N.; Berkman, L. F.; Floderus, B.; de Faire, U. Genetic susceptibility to death from coronary heart disease in a study of twins. N. Engl. J. Med. 1994, 330, 1041-1046.
    • (1994) N. Engl. J. Med , vol.330 , pp. 1041-1046
    • Marenberg, M.E.1    Risch, N.2    Berkman, L.F.3    Floderus, B.4    de Faire, U.5
  • 3
    • 0030667923 scopus 로고    scopus 로고
    • Heritability of left ventricular mass: The Framingham Heart Study
    • Post, W. S.; Larson, M. G.; Myers, R. H.; Galderisi, M.; Levy, D. Heritability of left ventricular mass: The Framingham Heart Study. Hypertension 1997, 30, 1025-1028.
    • (1997) Hypertension , vol.30 , pp. 1025-1028
    • Post, W.S.1    Larson, M.G.2    Myers, R.H.3    Galderisi, M.4    Levy, D.5
  • 4
    • 0021990820 scopus 로고
    • Heritability of cardiac size: An echocardiographic and electrocardiographic study of monozygotic and dizygotic twins
    • Adams, T. D.; Yanowitz, F. G.; Fisher, A. G.; Ridges, J. D.; Nelson, A. G.; Hagan, A. D.; Williams, R. R.; Hunt, S. C. Heritability of cardiac size: An echocardiographic and electrocardiographic study of monozygotic and dizygotic twins. Circulation 1985, 71, 39-44.
    • (1985) Circulation , vol.71 , pp. 39-44
    • Adams, T.D.1    Yanowitz, F.G.2    Fisher, A.G.3    Ridges, J.D.4    Nelson, A.G.5    Hagan, A.D.6    Williams, R.R.7    Hunt, S.C.8
  • 5
    • 0019302053 scopus 로고
    • Construction of a genetic linkage map in man using restriction fragment length polymorphisms
    • Botstein, D.; White, R. L.; Skolnick, M.; Davis, R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 1980, 32, 314-331.
    • (1980) Am. J. Hum. Genet , vol.32 , pp. 314-331
    • Botstein, D.1    White, R.L.2    Skolnick, M.3    Davis, R.W.4
  • 7
    • 0025040392 scopus 로고
    • A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation
    • Geisterfer-Lowrance, A. A.; Kass, S.; Tanigawa, G.; Vosberg, H. P.; McKenna, W.; Seidman, C. E.; Seidman, J. G. A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation. Cell 1990, 62, 999-1006.
    • (1990) Cell , vol.62 , pp. 999-1006
    • Geisterfer-Lowrance, A.A.1    Kass, S.2    Tanigawa, G.3    Vosberg, H.P.4    McKenna, W.5    Seidman, C.E.6    Seidman, J.G.7
  • 9
    • 0028914969 scopus 로고
    • A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
    • Curran, M. E.; Splawski, I.; Timothy, K. W.; Vincent, G. M.; Green, E. D.; Keating, M. T. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995, 80, 795-803.
    • (1995) Cell , vol.80 , pp. 795-803
    • Curran, M.E.1    Splawski, I.2    Timothy, K.W.3    Vincent, G.M.4    Green, E.D.5    Keating, M.T.6
  • 15
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander, E.; Kruglyak, L. Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat. Genet. 1995, 11, 241-247.
    • (1995) Nat. Genet , vol.11 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2
  • 16
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Project
    • International HapMap Consortium
    • International HapMap Consortium. The International HapMap Project. Nature 2003, 426, 789-796.
    • (2003) Nature , vol.426 , pp. 789-796
  • 17
    • 84864160745 scopus 로고    scopus 로고
    • National Human Genome Research Institute (NHGRI), Available online, (accessed on 25 February 2014)
    • National Human Genome Research Institute (NHGRI) Catalog of Published Genome-Wide Association Studies. Available online: http://www. genome. gov/gwasstudies/(accessed on 25 February 2014).
    • Catalog of Published Genome-Wide Association Studies
  • 20
    • 77249109399 scopus 로고    scopus 로고
    • Dilated cardiomyopathy
    • Jefferies, J. L.; Towbin, J. A. Dilated cardiomyopathy. Lancet 2010, 375, 752-762.
    • (2010) Lancet , vol.375 , pp. 752-762
    • Jefferies, J.L.1    Towbin, J.A.2
  • 21
    • 77953023261 scopus 로고    scopus 로고
    • Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy
    • Hershberger, R. E.; Norton, N.; Morales, A.; Li, D.; Siegfried, J. D.; Gonzalez-Quintana, J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ. Cardiovasc. Genet. 2010, 3, 155-161.
    • (2010) Circ. Cardiovasc. Genet , vol.3 , pp. 155-161
    • Hershberger, R.E.1    Norton, N.2    Morales, A.3    Li, D.4    Siegfried, J.D.5    Gonzalez-Quintana, J.6
  • 24
    • 0033534588 scopus 로고    scopus 로고
    • An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators
    • Takayama, S.; Xie, Z.; Reed, J. C. An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators. J. Biol. Chem. 1999, 274, 781-786.
    • (1999) J. Biol. Chem , vol.274 , pp. 781-786
    • Takayama, S.1    Xie, Z.2    Reed, J.C.3
  • 27
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich, D. E.; Lander, E. S. On the allelic spectrum of human disease. Trends Genet. 2001, 17, 502-510.
    • (2001) Trends Genet , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 28
    • 13144265739 scopus 로고    scopus 로고
    • Genome-wide association studies: Theoretical and practical concerns
    • Wang, W. Y.; Barratt, B. J.; Clayton, D. G.; Todd, J. A. Genome-wide association studies: Theoretical and practical concerns. Nat. Rev. Genet. 2005, 6, 109-118.
    • (2005) Nat. Rev. Genet , vol.6 , pp. 109-118
    • Wang, W.Y.1    Barratt, B.J.2    Clayton, D.G.3    Todd, J.A.4
  • 32
    • 0029805706 scopus 로고    scopus 로고
    • The new genomics: Global views of biology
    • Lander, E. S. The new genomics: Global views of biology. Science 1996, 274, 536-539.
    • (1996) Science , vol.274 , pp. 536-539
    • Lander, E.S.1
  • 33
    • 0036799545 scopus 로고    scopus 로고
    • The allelic architecture of human disease genes: Common disease-common variant. or not?
    • Pritchard, J. K.; Cox, N. J. The allelic architecture of human disease genes: Common disease-common variant. or not? Hum. Mol. Genet. 2002, 11, 2417-2423.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 2417-2423
    • Pritchard, J.K.1    Cox, N.J.2
  • 34
    • 84855925920 scopus 로고    scopus 로고
    • Rare and common variants: Twenty arguments
    • Gibson, G. Rare and common variants: Twenty arguments. Nat. Rev. Genet. 2011, 13, 135-145.
    • (2011) Nat. Rev. Genet , vol.13 , pp. 135-145
    • Gibson, G.1
  • 35
    • 58149156386 scopus 로고    scopus 로고
    • Cohort studies and the genetics of complex disease
    • Manolio, T. A. Cohort studies and the genetics of complex disease. Nat. Genet. 2009, 41, 5-6.
    • (2009) Nat. Genet , vol.41 , pp. 5-6
    • Manolio, T.A.1
  • 37
    • 79957506175 scopus 로고    scopus 로고
    • Strategic approaches to unraveling genetic causes of cardiovascular diseases
    • Marian, A. J.; Belmont, J. Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ. Res. 2011, 108, 1252-1269.
    • (2011) Circ. Res , vol.108 , pp. 1252-1269
    • Marian, A.J.1    Belmont, J.2
  • 43
    • 77957272611 scopus 로고    scopus 로고
    • A survey of sequence alignment algorithms for next-generation sequencing
    • Li, H.; Homer, N. A survey of sequence alignment algorithms for next-generation sequencing. Brief. Bioinforma. 2010, 11, 473-483.
    • (2010) Brief. Bioinforma , vol.11 , pp. 473-483
    • Li, H.1    Homer, N.2
  • 44
    • 79956314887 scopus 로고    scopus 로고
    • Genotype and SNP calling from next-generation sequencing data
    • Nielsen, R.; Paul, J. S.; Albrechtsen, A.; Song, Y. S. Genotype and SNP calling from next-generation sequencing data. Nat. Rev. Genet. 2011, 12, 443-451.
    • (2011) Nat. Rev. Genet , vol.12 , pp. 443-451
    • Nielsen, R.1    Paul, J.S.2    Albrechtsen, A.3    Song, Y.S.4
  • 51
    • 84882859709 scopus 로고    scopus 로고
    • Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data
    • Andreasen, C.; Refsgaard, L.; Nielsen, J. B.; Sajadieh, A.; Winkel, B. G.; Tfelt-Hansen, J.; Haunso, S.; Holst, A. G.; Svendsen, J. H.; Olesen, M. S. Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data. Can. J. Cardiol. 2013, 29, 1104-1109.
    • (2013) Can. J. Cardiol , vol.29 , pp. 1104-1109
    • Andreasen, C.1    Refsgaard, L.2    Nielsen, J.B.3    Sajadieh, A.4    Winkel, B.G.5    Tfelt-Hansen, J.6    Haunso, S.7    Holst, A.G.8    Svendsen, J.H.9    Olesen, M.S.10
  • 52
    • 80053942697 scopus 로고    scopus 로고
    • Review and metaanalysis of the frequency of familial dilated cardiomyopathy
    • Petretta, M.; Pirozzi, F.; Sasso, L.; Paglia, A.; Bonaduce, D. Review and metaanalysis of the frequency of familial dilated cardiomyopathy. Am. J. Cardiol. 2011, 108, 1171-1176.
    • (2011) Am. J. Cardiol , vol.108 , pp. 1171-1176
    • Petretta, M.1    Pirozzi, F.2    Sasso, L.3    Paglia, A.4    Bonaduce, D.5
  • 55
    • 34247599443 scopus 로고    scopus 로고
    • Available online, (accessed on 25 February 2014)
    • Partners Healthcare. Available online: http://pcpgm. partners. org/(accessed on 25 February 2014).
    • Partners Healthcare
  • 57
    • 0028957373 scopus 로고
    • Passive tension in cardiac muscle: Contribution of collagen, titin, microtubules, and intermediate filaments
    • Granzier, H. L.; Irving, T. C. Passive tension in cardiac muscle: Contribution of collagen, titin, microtubules, and intermediate filaments. Biophys. J. 1995, 68, 1027-1044.
    • (1995) Biophys. J , vol.68 , pp. 1027-1044
    • Granzier, H.L.1    Irving, T.C.2
  • 58
    • 0023047016 scopus 로고
    • A physiological role for titin and nebulin in skeletal muscle
    • Horowits, R.; Kempner, E. S.; Bisher, M. E.; Podolsky, R. J. A physiological role for titin and nebulin in skeletal muscle. Nature 1986, 323, 160-164.
    • (1986) Nature , vol.323 , pp. 160-164
    • Horowits, R.1    Kempner, E.S.2    Bisher, M.E.3    Podolsky, R.J.4
  • 59
    • 0035914471 scopus 로고    scopus 로고
    • Structural and functional studies of titin's fn3 modules reveal conserved surface patterns and binding to myosin S1-A possible role in the Frank-Starling mechanism of the heart
    • Muhle-Goll, C.; Habeck, M.; Cazorla, O.; Nilges, M.; Labeit, S.; Granzier, H. Structural and functional studies of titin's fn3 modules reveal conserved surface patterns and binding to myosin S1-A possible role in the Frank-Starling mechanism of the heart. J. Mol. Biol. 2001, 313, 431-447.
    • (2001) J. Mol. Biol , vol.313 , pp. 431-447
    • Muhle-Goll, C.1    Habeck, M.2    Cazorla, O.3    Nilges, M.4    Labeit, S.5    Granzier, H.6
  • 60
    • 0035947754 scopus 로고    scopus 로고
    • Titin-based modulation of calcium sensitivity of active tension in mouse skinned cardiac myocytes
    • Cazorla, O.; Wu, Y.; Irving, T. C.; Granzier, H. Titin-based modulation of calcium sensitivity of active tension in mouse skinned cardiac myocytes. Circ. Res. 2001, 88, 1028-1035.
    • (2001) Circ. Res , vol.88 , pp. 1028-1035
    • Cazorla, O.1    Wu, Y.2    Irving, T.C.3    Granzier, H.4
  • 71
    • 78651237647 scopus 로고    scopus 로고
    • Identifying a high fraction of the human genome to be under selective constraint using GERP++
    • Davydov, E. V.; Goode, D. L.; Sirota, M.; Cooper, G. M.; Sidow, A.; Batzoglou, S. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol. 2010, 6, e1001025.
    • (2010) PLoS Comput. Biol , vol.6
    • Davydov, E.V.1    Goode, D.L.2    Sirota, M.3    Cooper, G.M.4    Sidow, A.5    Batzoglou, S.6
  • 76
    • 84954358609 scopus 로고    scopus 로고
    • The Human Phenotype Ontology: A tool for annotating and analyzing human hereditary disease
    • Robinson, P. N.; Kohler, S.; Bauer, S.; Seelow, D.; Horn, D.; Mundlos, S. The Human Phenotype Ontology: A tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 2008, 83, 610-615.
    • (2008) Am. J. Hum. Genet , vol.83 , pp. 610-615
    • Robinson, P.N.1    Kohler, S.2    Bauer, S.3    Seelow, D.4    Horn, D.5    Mundlos, S.6
  • 80
    • 79954672317 scopus 로고    scopus 로고
    • Genome structural variation discovery and genotyping
    • Alkan, C.; Coe, B. P.; Eichler, E. E. Genome structural variation discovery and genotyping. Nat. Rev. Genet. 2011, 12, 363-376.
    • (2011) Nat. Rev. Genet , vol.12 , pp. 363-376
    • Alkan, C.1    Coe, B.P.2    Eichler, E.E.3
  • 86
    • 22444437609 scopus 로고    scopus 로고
    • Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis
    • Zhao, Y.; Samal, E.; Srivastava, D. Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis. Nature 2005, 436, 214-220.
    • (2005) Nature , vol.436 , pp. 214-220
    • Zhao, Y.1    Samal, E.2    Srivastava, D.3
  • 89
    • 34247589595 scopus 로고    scopus 로고
    • Control of stress-dependent cardiac growth and gene expression by a microRNA
    • Van Rooij, E.; Sutherland, L. B.; Qi, X.; Richardson, J. A.; Hill, J.; Olson, E. N. Control of stress-dependent cardiac growth and gene expression by a microRNA. Science 2007, 316, 575-579.
    • (2007) Science , vol.316 , pp. 575-579
    • Van Rooij, E.1    Sutherland, L.B.2    Qi, X.3    Richardson, J.A.4    Hill, J.5    Olson, E.N.6
  • 95
    • 84880934152 scopus 로고    scopus 로고
    • Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
    • Wang, K.; Kim, C.; Bradfield, J.; Guo, Y.; Toskala, E.; Otieno, F. G.; Hou, C.; Thomas, K.; Cardinale, C.; Lyon, G. J.; et al. Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. Genome Med. 2013, 5, 67.
    • (2013) Genome Med , vol.5 , pp. 67
    • Wang, K.1    Kim, C.2    Bradfield, J.3    Guo, Y.4    Toskala, E.5    Otieno, F.G.6    Hou, C.7    Thomas, K.8    Cardinale, C.9    Lyon, G.J.10
  • 96
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
    • Wang, K.; Li, M.; Hakonarson, H. ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010, 38, e164.
    • (2010) Nucleic Acids Res , vol.38
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 97
    • 84861548193 scopus 로고    scopus 로고
    • Summarizing and correcting the GC content bias in high-throughput sequencing
    • Benjamini, Y.; Speed, T. P. Summarizing and correcting the GC content bias in high-throughput sequencing. Nucleic Acids Res. 2012, 40, e72.
    • (2012) Nucleic Acids Res , vol.40
    • Benjamini, Y.1    Speed, T.P.2
  • 98
    • 84857405493 scopus 로고    scopus 로고
    • Challenges in whole exome sequencing: An example from hereditary deafness
    • Sirmaci, A.; Edwards, Y. J.; Akay, H.; Tekin, M. Challenges in whole exome sequencing: An example from hereditary deafness. PLoS One 2012, 7, e32000.
    • (2012) PLoS One , vol.7
    • Sirmaci, A.1    Edwards, Y.J.2    Akay, H.3    Tekin, M.4
  • 100
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng, P. C.; Henikoff, S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003, 31, 3812-3814.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 103
    • 77954257799 scopus 로고    scopus 로고
    • ConSurf 2010: Calculating evolutionary conservation in sequence and structure of proteins and nucleic acids
    • Ashkenazy, H.; Erez, E.; Martz, E.; Pupko, T.; Ben-Tal, N. ConSurf 2010: Calculating evolutionary conservation in sequence and structure of proteins and nucleic acids. Nucleic Acids Res. 2010, 38, W529-W533.
    • (2010) Nucleic Acids Res , vol.38
    • Ashkenazy, H.1    Erez, E.2    Martz, E.3    Pupko, T.4    Ben-Tal, N.5
  • 104
    • 2442441507 scopus 로고    scopus 로고
    • Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
    • Yeo, G.; Burge, C. B. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol. 2004, 11, 377-394.
    • (2004) J. Comput. Biol , vol.11 , pp. 377-394
    • Yeo, G.1    Burge, C.B.2


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