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Volumn 98, Issue 5, 2016, Pages 883-897

Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2

Author keywords

[No Author keywords available]

Indexed keywords

MITOFUSIN 2; GUANOSINE TRIPHOSPHATASE; MFN2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; RNA SPLICE SITE;

EID: 84964687940     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.03.007     Document Type: Article
Times cited : (25)

References (72)
  • 2
    • 0026541706 scopus 로고
    • The pathogenesis of coronary artery disease and the acute coronary syndromes (2)
    • V. Fuster, L. Badimon, J.J. Badimon, and J.H. Chesebro The pathogenesis of coronary artery disease and the acute coronary syndromes (2) N. Engl. J. Med. 326 1992 310 318
    • (1992) N. Engl. J. Med. , vol.326 , pp. 310-318
    • Fuster, V.1    Badimon, L.2    Badimon, J.J.3    Chesebro, J.H.4
  • 3
    • 0028013622 scopus 로고
    • Platelet aggregation, coronary artery disease progression and future coronary events
    • J.Y. Lam, J.G. Latour, J. Lespérance, and D. Waters Platelet aggregation, coronary artery disease progression and future coronary events Am. J. Cardiol. 73 1994 333 338
    • (1994) Am. J. Cardiol. , vol.73 , pp. 333-338
    • Lam, J.Y.1    Latour, J.G.2    Lespérance, J.3    Waters, D.4
  • 4
    • 0022578609 scopus 로고
    • Intramyocardial platelet aggregation in patients with unstable angina suffering sudden ischemic cardiac death
    • M.J. Davies, A.C. Thomas, P.A. Knapman, and J.R. Hangartner Intramyocardial platelet aggregation in patients with unstable angina suffering sudden ischemic cardiac death Circulation 73 1986 418 427
    • (1986) Circulation , vol.73 , pp. 418-427
    • Davies, M.J.1    Thomas, A.C.2    Knapman, P.A.3    Hangartner, J.R.4
  • 6
    • 27144453722 scopus 로고    scopus 로고
    • Aggregometry detects platelet hyperreactivity in healthy individuals
    • D.L. Yee, C.W. Sun, A.L. Bergeron, J.F. Dong, and P.F. Bray Aggregometry detects platelet hyperreactivity in healthy individuals Blood 106 2005 2723 2729
    • (2005) Blood , vol.106 , pp. 2723-2729
    • Yee, D.L.1    Sun, C.W.2    Bergeron, A.L.3    Dong, J.F.4    Bray, P.F.5
  • 8
    • 34547114009 scopus 로고    scopus 로고
    • Platelet hyperreactivity: Predictive and intrinsic properties
    • v-vi
    • P.F. Bray Platelet hyperreactivity: predictive and intrinsic properties Hematol. Oncol. Clin. North Am. 21 2007 633 645, v-vi
    • (2007) Hematol. Oncol. Clin. North Am. , vol.21 , pp. 633-645
    • Bray, P.F.1
  • 9
    • 0028330005 scopus 로고
    • Genetic susceptibility to death from coronary heart disease in a study of twins
    • M.E. Marenberg, N. Risch, L.F. Berkman, B. Floderus, and U. de Faire Genetic susceptibility to death from coronary heart disease in a study of twins N. Engl. J. Med. 330 1994 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
  • 10
  • 11
    • 0018682219 scopus 로고
    • Familial aggregation of coronary heart disease in a high incidence area (North Karelia, Finland)
    • A.M. Rissanen Familial aggregation of coronary heart disease in a high incidence area (North Karelia, Finland) Br. Heart J. 42 1979 294 303
    • (1979) Br. Heart J. , vol.42 , pp. 294-303
    • Rissanen, A.M.1
  • 12
    • 2342486731 scopus 로고    scopus 로고
    • Parental cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults: A prospective study of parents and offspring
    • D.M. Lloyd-Jones, B.H. Nam, R.B. D'Agostino Sr., D. Levy, J.M. Murabito, T.J. Wang, P.W. Wilson, and C.J. O'Donnell Parental cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults: a prospective study of parents and offspring JAMA 291 2004 2204 2211
    • (2004) JAMA , vol.291 , pp. 2204-2211
    • Lloyd-Jones, D.M.1    Nam, B.H.2    D'Agostino, R.B.3    Levy, D.4    Murabito, J.M.5    Wang, T.J.6    Wilson, P.W.7    O'Donnell, C.J.8
  • 14
    • 84890231680 scopus 로고    scopus 로고
    • Beyond GWASs: Illuminating the dark road from association to function
    • S.L. Edwards, J. Beesley, J.D. French, and A.M. Dunning Beyond GWASs: illuminating the dark road from association to function Am. J. Hum. Genet. 93 2013 779 797
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 779-797
    • Edwards, S.L.1    Beesley, J.2    French, J.D.3    Dunning, A.M.4
  • 16
    • 84901056381 scopus 로고    scopus 로고
    • Determining causality and consequence of expression quantitative trait loci
    • A. Battle, and S.B. Montgomery Determining causality and consequence of expression quantitative trait loci Hum. Genet. 133 2014 727 735
    • (2014) Hum. Genet. , vol.133 , pp. 727-735
    • Battle, A.1    Montgomery, S.B.2
  • 18
    • 0035400051 scopus 로고    scopus 로고
    • Genetical genomics: The added value from segregation
    • R.C. Jansen, and J.P. Nap Genetical genomics: the added value from segregation Trends Genet. 17 2001 388 391
    • (2001) Trends Genet. , vol.17 , pp. 388-391
    • Jansen, R.C.1    Nap, J.P.2
  • 19
    • 84907972474 scopus 로고    scopus 로고
    • From genome to function by studying eQTLs
    • H.J. Westra, and L. Franke From genome to function by studying eQTLs Biochim. Biophys. Acta 1842 2014 1896 1902
    • (2014) Biochim. Biophys. Acta , vol.1842 , pp. 1896-1902
    • Westra, H.J.1    Franke, L.2
  • 20
    • 84855378129 scopus 로고    scopus 로고
    • NEW: Network-enabled wisdom in biology, medicine, and health care
    • E.E. Schadt, and J.L. Björkegren NEW: network-enabled wisdom in biology, medicine, and health care Sci. Transl. Med. 4 2012 115rv1
    • (2012) Sci. Transl. Med. , vol.4 , pp. 115rv1
    • Schadt, E.E.1    Björkegren, J.L.2
  • 22
    • 0037443545 scopus 로고    scopus 로고
    • Transcript profiling of human platelets using microarray and serial analysis of gene expression
    • D.V. Gnatenko, J.J. Dunn, S.R. McCorkle, D. Weissmann, P.L. Perrotta, and W.F. Bahou Transcript profiling of human platelets using microarray and serial analysis of gene expression Blood 101 2003 2285 2293
    • (2003) Blood , vol.101 , pp. 2285-2293
    • Gnatenko, D.V.1    Dunn, J.J.2    McCorkle, S.R.3    Weissmann, D.4    Perrotta, P.L.5    Bahou, W.F.6
  • 23
    • 84929001104 scopus 로고    scopus 로고
    • Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
    • GTEx Consortium Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans Science 348 2015 648 660
    • (2015) Science , vol.348 , pp. 648-660
  • 25
    • 84890802026 scopus 로고    scopus 로고
    • Phenotype-Genotype Integrator (PheGenI): Synthesizing genome-wide association study (GWAS) data with existing genomic resources
    • E.M. Ramos, D. Hoffman, H.A. Junkins, D. Maglott, L. Phan, S.T. Sherry, M. Feolo, and L.A. Hindorff Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources Eur. J. Hum. Genet. 22 2014 144 147
    • (2014) Eur. J. Hum. Genet. , vol.22 , pp. 144-147
    • Ramos, E.M.1    Hoffman, D.2    Junkins, H.A.3    Maglott, D.4    Phan, L.5    Sherry, S.T.6    Feolo, M.7    Hindorff, L.A.8
  • 31
    • 84861153094 scopus 로고    scopus 로고
    • Matrix eQTL: Ultra fast eQTL analysis via large matrix operations
    • A.A. Shabalin Matrix eQTL: ultra fast eQTL analysis via large matrix operations Bioinformatics 28 2012 1353 1358
    • (2012) Bioinformatics , vol.28 , pp. 1353-1358
    • Shabalin, A.A.1
  • 32
    • 77955505742 scopus 로고    scopus 로고
    • A Bayesian framework to account for complex non-genetic factors in gene expression levels greatly increases power in eQTL studies
    • O. Stegle, L. Parts, R. Durbin, and J. Winn A Bayesian framework to account for complex non-genetic factors in gene expression levels greatly increases power in eQTL studies PLoS Comput. Biol. 6 2010 e1000770
    • (2010) PLoS Comput. Biol. , vol.6 , pp. e1000770
    • Stegle, O.1    Parts, L.2    Durbin, R.3    Winn, J.4
  • 33
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • B.N. Howie, P. Donnelly, and J. Marchini A flexible and accurate genotype imputation method for the next generation of genome-wide association studies PLoS Genet. 5 2009 e1000529
    • (2009) PLoS Genet. , vol.5 , pp. e1000529
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 41
    • 84892564150 scopus 로고    scopus 로고
    • Next generation sequencing analysis of human platelet PolyA+ mRNAs and rRNA-depleted total RNA
    • A. Kissopoulou, J. Jonasson, T.L. Lindahl, and A. Osman Next generation sequencing analysis of human platelet PolyA+ mRNAs and rRNA-depleted total RNA PLoS ONE 8 2013 e81809
    • (2013) PLoS ONE , vol.8 , pp. e81809
    • Kissopoulou, A.1    Jonasson, J.2    Lindahl, T.L.3    Osman, A.4
  • 46
    • 79151484424 scopus 로고    scopus 로고
    • The study of eQTL variations by RNA-seq: From SNPs to phenotypes
    • J. Majewski, and T. Pastinen The study of eQTL variations by RNA-seq: from SNPs to phenotypes Trends Genet. 27 2011 72 79
    • (2011) Trends Genet. , vol.27 , pp. 72-79
    • Majewski, J.1    Pastinen, T.2
  • 47
    • 0141785273 scopus 로고    scopus 로고
    • CXC-chemokines in coronary artery disease: Possible pathogenic role of interactions between oxidized low-density lipoprotein, platelets and peripheral blood mononuclear cells
    • T. Holm, J.K. Damås, K. Holven, I. Nordøy, F.R. Brosstad, T. Ueland, T. Währe, J. Kjekshus, S.S. Frøland, H.G. Eiken, and et al. CXC-chemokines in coronary artery disease: possible pathogenic role of interactions between oxidized low-density lipoprotein, platelets and peripheral blood mononuclear cells J. Thromb. Haemost. 1 2003 257 262
    • (2003) J. Thromb. Haemost. , vol.1 , pp. 257-262
    • Holm, T.1    Damås, J.K.2    Holven, K.3    Nordøy, I.4    Brosstad, F.R.5    Ueland, T.6    Währe, T.7    Kjekshus, J.8    Frøland, S.S.9    Eiken, H.G.10
  • 48
    • 84905014848 scopus 로고    scopus 로고
    • Platelets guide the formation of early metastatic niches
    • M. Labelle, S. Begum, and R.O. Hynes Platelets guide the formation of early metastatic niches Proc. Natl. Acad. Sci. USA 111 2014 E3053 E3061
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111 , pp. E3053-E3061
    • Labelle, M.1    Begum, S.2    Hynes, R.O.3
  • 49
    • 77956519683 scopus 로고    scopus 로고
    • Munc13-4 is a limiting factor in the pathway required for platelet granule release and hemostasis
    • Q. Ren, C. Wimmer, M.C. Chicka, S. Ye, Y. Ren, F.M. Hughson, and S.W. Whiteheart Munc13-4 is a limiting factor in the pathway required for platelet granule release and hemostasis Blood 116 2010 869 877
    • (2010) Blood , vol.116 , pp. 869-877
    • Ren, Q.1    Wimmer, C.2    Chicka, M.C.3    Ye, S.4    Ren, Y.5    Hughson, F.M.6    Whiteheart, S.W.7
  • 52
    • 33748774661 scopus 로고    scopus 로고
    • Calcium-sensitive mitochondrial membrane potential in human platelets and intrinsic signals of cell death
    • H.A. Leaver, A.C. Schou, M.T. Rizzo, and C.V. Prowse Calcium-sensitive mitochondrial membrane potential in human platelets and intrinsic signals of cell death Platelets 17 2006 368 377
    • (2006) Platelets , vol.17 , pp. 368-377
    • Leaver, H.A.1    Schou, A.C.2    Rizzo, M.T.3    Prowse, C.V.4
  • 55
    • 84937968994 scopus 로고    scopus 로고
    • Genome-wide association studies of late-onset cardiovascular disease
    • J.G. Smith, and C. Newton-Cheh Genome-wide association studies of late-onset cardiovascular disease J. Mol. Cell. Cardiol. 83 2015 131 141
    • (2015) J. Mol. Cell. Cardiol. , vol.83 , pp. 131-141
    • Smith, J.G.1    Newton-Cheh, C.2
  • 56
    • 84902177497 scopus 로고    scopus 로고
    • Genetics of coronary artery disease
    • R. Roberts Genetics of coronary artery disease Circ. Res. 114 2014 1890 1903
    • (2014) Circ. Res. , vol.114 , pp. 1890-1903
    • Roberts, R.1
  • 58
    • 22544451586 scopus 로고    scopus 로고
    • Disruption of fusion results in mitochondrial heterogeneity and dysfunction
    • H. Chen, A. Chomyn, and D.C. Chan Disruption of fusion results in mitochondrial heterogeneity and dysfunction J. Biol. Chem. 280 2005 26185 26192
    • (2005) J. Biol. Chem. , vol.280 , pp. 26185-26192
    • Chen, H.1    Chomyn, A.2    Chan, D.C.3
  • 59
    • 0142058391 scopus 로고    scopus 로고
    • Two mitofusin proteins, mammalian homologues of FZO, with distinct functions are both required for mitochondrial fusion
    • Y. Eura, N. Ishihara, S. Yokota, and K. Mihara Two mitofusin proteins, mammalian homologues of FZO, with distinct functions are both required for mitochondrial fusion J. Biochem. 134 2003 333 344
    • (2003) J. Biochem. , vol.134 , pp. 333-344
    • Eura, Y.1    Ishihara, N.2    Yokota, S.3    Mihara, K.4
  • 61
    • 84904915119 scopus 로고    scopus 로고
    • A tour through the transcriptional landscape of platelets
    • S. Schubert, A.S. Weyrich, and J.W. Rowley A tour through the transcriptional landscape of platelets Blood 124 2014 493 502
    • (2014) Blood , vol.124 , pp. 493-502
    • Schubert, S.1    Weyrich, A.S.2    Rowley, J.W.3
  • 62
    • 84943328610 scopus 로고    scopus 로고
    • Low Expression of Mfn2 Is Associated with Mitochondrial Damage and Apoptosis of Ovarian Tissues in the Premature Ovarian Failure Model
    • W. Chen, X. Xu, L. Wang, G. Bai, and W. Xiang Low Expression of Mfn2 Is Associated with Mitochondrial Damage and Apoptosis of Ovarian Tissues in the Premature Ovarian Failure Model PLoS ONE 10 2015 e0136421
    • (2015) PLoS ONE , vol.10 , pp. e0136421
    • Chen, W.1    Xu, X.2    Wang, L.3    Bai, G.4    Xiang, W.5
  • 64
    • 84867809696 scopus 로고    scopus 로고
    • Decreased mitochondrial deoxyribonucleic acid and increased oxidative damage in chronic hepatitis C
    • H.H. Yen, K.L. Shih, T.T. Lin, W.W. Su, M.S. Soon, and C.S. Liu Decreased mitochondrial deoxyribonucleic acid and increased oxidative damage in chronic hepatitis C World J. Gastroenterol. 18 2012 5084 5089
    • (2012) World J. Gastroenterol. , vol.18 , pp. 5084-5089
    • Yen, H.H.1    Shih, K.L.2    Lin, T.T.3    Su, W.W.4    Soon, M.S.5    Liu, C.S.6
  • 65
    • 0036252998 scopus 로고    scopus 로고
    • Platelet aging in vivo is associated with activation of apoptotic pathways: Studies in a model of suppressed thrombopoiesis in dogs
    • J. Pereira, M. Soto, I. Palomo, M. Ocqueteau, L.M. Coetzee, S. Astudillo, E. Aranda, and D. Mezzano Platelet aging in vivo is associated with activation of apoptotic pathways: studies in a model of suppressed thrombopoiesis in dogs Thromb. Haemost. 87 2002 905 909
    • (2002) Thromb. Haemost. , vol.87 , pp. 905-909
    • Pereira, J.1    Soto, M.2    Palomo, I.3    Ocqueteau, M.4    Coetzee, L.M.5    Astudillo, S.6    Aranda, E.7    Mezzano, D.8
  • 67
    • 2442591445 scopus 로고    scopus 로고
    • The White platelet syndrome: A new autosomal dominant platelet disorder
    • J.G. White, N.S. Key, R.A. King, and G.M. Vercellotti The White platelet syndrome: a new autosomal dominant platelet disorder Platelets 15 2004 173 184
    • (2004) Platelets , vol.15 , pp. 173-184
    • White, J.G.1    Key, N.S.2    King, R.A.3    Vercellotti, G.M.4
  • 68
    • 84940645158 scopus 로고    scopus 로고
    • CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: A cross-sectional analysis
    • V. Fridman, B. Bundy, M.M. Reilly, D. Pareyson, C. Bacon, J. Burns, J. Day, S. Feely, R.S. Finkel, T. Grider, et al. Inherited Neuropathies Consortium CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis J. Neurol. Neurosurg. Psychiatry 86 2015 873 878
    • (2015) J. Neurol. Neurosurg. Psychiatry , vol.86 , pp. 873-878
    • Fridman, V.1    Bundy, B.2    Reilly, M.M.3    Pareyson, D.4    Bacon, C.5    Burns, J.6    Day, J.7    Feely, S.8    Finkel, R.S.9    Grider, T.10
  • 70
    • 79551637573 scopus 로고    scopus 로고
    • HSG/Mfn2 gene polymorphism and essential hypertension: A case-control association study in Chinese
    • Z. Wang, Y. Liu, J. Liu, K. Liu, J. Wen, S. Wen, and Z. Wu HSG/Mfn2 gene polymorphism and essential hypertension: a case-control association study in Chinese J. Atheroscler. Thromb. 18 2011 24 31
    • (2011) J. Atheroscler. Thromb. , vol.18 , pp. 24-31
    • Wang, Z.1    Liu, Y.2    Liu, J.3    Liu, K.4    Wen, J.5    Wen, S.6    Wu, Z.7


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