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Volumn 126, Issue 11, 2015, Pages e19-e29

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF

(67)  Huffman, Jennifer E a,b,c   De Vries, Paul S d   Morrison, Alanna C e   Sabater Lleal, Maria f   Kacprowski, Tim g   Auer, Paul L h   Brody, Jennifer A i   Chasman, Daniel I j,k   Chen, Ming Huei l   Guo, Xiuqing m   Lin, Li An e,n   Marioni, Riccardo E a,o   Müller Nurasyid, Martina p,q,r   Yanek, Lisa R s   Pankratz, Nathan t   Grove, Megan L e   De Maat, Moniek P M d   Cushman, Mary u   Wiggins, Kerri L i   Qi, Lihong v   more..


Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; FIBRINOGEN; VON WILLEBRAND FACTOR; KCNT1 PROTEIN, HUMAN; NERVE PROTEIN; POTASSIUM CHANNEL;

EID: 84942364202     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-02-624551     Document Type: Article
Times cited : (58)

References (71)
  • 1
    • 0034911310 scopus 로고    scopus 로고
    • Hemostatic risk factors for atherothrombotic disease: An epidemiologic view
    • Folsom AR. Hemostatic risk factors for atherothrombotic disease: an epidemiologic view. Thromb Haemost. 2001;86(1):366-373.
    • (2001) Thromb Haemost , vol.86 , Issue.1 , pp. 366-373
    • Folsom, A.R.1
  • 2
    • 34447646483 scopus 로고    scopus 로고
    • Factor VII coagulant activity, factor VII -670A/C and -402G/A polymorphisms, and risk of venous thromboembolism
    • Folsom AR, Cushman M, Heckbert SR, Ohira T, Rasmussen-Torvik L, Tsai MY. Factor VII coagulant activity, factor VII -670A/C and -402G/A polymorphisms, and risk of venous thromboembolism. J Thromb Haemost. 2007;5(8):1674-1678.
    • (2007) J Thromb Haemost , vol.5 , Issue.8 , pp. 1674-1678
    • Folsom, A.R.1    Cushman, M.2    Heckbert, S.R.3    Ohira, T.4    Rasmussen-Torvik, L.5    Tsai, M.Y.6
  • 3
    • 30944441643 scopus 로고    scopus 로고
    • Which hemostatic markers add to the predictive value of conventional risk factors for coronary heart disease and ischemic stroke? The Caerphilly Study
    • Smith A, Patterson C, Yarnell J, Rumley A, Ben-Shlomo Y, Lowe G. Which hemostatic markers add to the predictive value of conventional risk factors for coronary heart disease and ischemic stroke? The Caerphilly Study. Circulation. 2005;112(20):3080-3087.
    • (2005) Circulation , vol.112 , Issue.20 , pp. 3080-3087
    • Smith, A.1    Patterson, C.2    Yarnell, J.3    Rumley, A.4    Ben-Shlomo, Y.5    Lowe, G.6
  • 4
    • 84926426742 scopus 로고    scopus 로고
    • Plasma fibrinogen level and the risk of major cardiovascular diseases and nonvascular mortality: An individual participant meta-analysis
    • Danesh J, Lewington S, Thompson SG, et al; Fibrinogen Studies Collaboration. Plasma fibrinogen level and the risk of major cardiovascular diseases and nonvascular mortality: an individual participant meta-analysis. JAMA. 2005;294(14):1799-1809.
    • (2005) JAMA , vol.294 , Issue.14 , pp. 1799-1809
    • Danesh, J.1    Lewington, S.2    Thompson, S.G.3
  • 5
    • 0028814316 scopus 로고
    • Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis
    • Koster T, Blann AD, Briët E, Vandenbroucke JP, Rosendaal FR. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet. 1995;345(8943):152-155.
    • (1995) Lancet , vol.345 , Issue.8943 , pp. 152-155
    • Koster, T.1    Blann, A.D.2    Briët, E.3    Vandenbroucke, J.P.4    Rosendaal, F.R.5
  • 6
    • 41649119245 scopus 로고    scopus 로고
    • von Willebrand factor in cardiovascular disease: Focus on acute coronary syndromes
    • Spiel AO, Gilbert JC, Jilma B. von Willebrand factor in cardiovascular disease: focus on acute coronary syndromes. Circulation. 2008;117(11):1449-1459.
    • (2008) Circulation , vol.117 , Issue.11 , pp. 1449-1459
    • Spiel, A.O.1    Gilbert, J.C.2    Jilma, B.3
  • 7
    • 77649222029 scopus 로고    scopus 로고
    • Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: The Women's Genome Health Study
    • Danik JS, Paré G, Chasman DI, et al. Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Circ Cardiovasc Genet. 2009;2(2):134-141.
    • (2009) Circ Cardiovasc Genet , vol.2 , Issue.2 , pp. 134-141
    • Danik, J.S.1    Paré, G.2    Chasman, D.I.3
  • 8
    • 80052963043 scopus 로고    scopus 로고
    • Assessment of genetic determinants of the association of γ′ fibrinogen in relation to cardiovascular disease
    • Lovely RS, Yang Q, Massaro JM, et al. Assessment of genetic determinants of the association of γ′ fibrinogen in relation to cardiovascular disease. Arterioscler Thromb Vasc Biol. 2011;31(10):2345-2352.
    • (2011) Arterioscler Thromb Vasc Biol , vol.31 , Issue.10 , pp. 2345-2352
    • Lovely, R.S.1    Yang, Q.2    Massaro, J.M.3
  • 9
    • 84884250513 scopus 로고    scopus 로고
    • Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease
    • Sabater-Lleal M, Huang J, Chasman D, et al; VTE Consortium; STROKE Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2); C4D Consortium; CARDIoGRAM Consortium. Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. Circulation. 2013;128(12):1310-1324.
    • (2013) Circulation , vol.128 , Issue.12 , pp. 1310-1324
    • Sabater-Lleal, M.1    Huang, J.2    Chasman, D.3
  • 10
    • 78650965893 scopus 로고    scopus 로고
    • Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: The Candidate Gene Association Resource (CARe)
    • Wassel CL, Lange LA, Keating BJ, et al. Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). Blood. 2011;117(1):268-275.
    • (2011) Blood , vol.117 , Issue.1 , pp. 268-275
    • Wassel, C.L.1    Lange, L.A.2    Keating, B.J.3
  • 11
    • 84886901150 scopus 로고    scopus 로고
    • Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: The NHLBI Exome Sequencing Project
    • Johnsen JM, Auer PL, Morrison AC, et al; NHLBI Exome Sequencing Project. Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. Blood. 2013;122(4):590-597.
    • (2013) Blood , vol.122 , Issue.4 , pp. 590-597
    • Johnsen, J.M.1    Auer, P.L.2    Morrison, A.C.3
  • 12
    • 80051692553 scopus 로고    scopus 로고
    • A gene-centric association scan for Coagulation Factor VII levels in European and African Americans: The Candidate Gene Association Resource (CARe) Consortium
    • Taylor KC, Lange LA, Zabaneh D, et al. A gene-centric association scan for Coagulation Factor VII levels in European and African Americans: the Candidate Gene Association Resource (CARe) Consortium. Hum Mol Genet. 2011;20(17):3525-3534.
    • (2011) Hum Mol Genet , vol.20 , Issue.17 , pp. 3525-3534
    • Taylor, K.C.1    Lange, L.A.2    Zabaneh, D.3
  • 13
    • 77950217693 scopus 로고    scopus 로고
    • Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium
    • Smith NL, Chen MH, Dehghan A, et al; Wellcome Trust Case Control Consortium. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. Circulation. 2010;121(12):1382-1392.
    • (2010) Circulation , vol.121 , Issue.12 , pp. 1382-1392
    • Smith, N.L.1    Chen, M.H.2    Dehghan, A.3
  • 14
    • 67849121952 scopus 로고    scopus 로고
    • Association of novel genetic Loci with circulating fibrinogen levels: A genome-wide association study in 6 population-based cohorts
    • Dehghan A, Yang Q, Peters A, et al; Wellcome Trust Case Control Consortium. Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts. Circ Cardiovasc Genet. 2009;2(2):125-133.
    • (2009) Circ Cardiovasc Genet , vol.2 , Issue.2 , pp. 125-133
    • Dehghan, A.1    Yang, Q.2    Peters, A.3
  • 15
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461(7265):747-753.
    • (2009) Nature , vol.461 , Issue.7265 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 16
    • 63449100039 scopus 로고    scopus 로고
    • Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts
    • Psaty BM, O'Donnell CJ, Gudnason V, et al; CHARGE Consortium. Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ Cardiovasc Genet. 2009;2(1):73-80.
    • (2009) Circ Cardiovasc Genet , vol.2 , Issue.1 , pp. 73-80
    • Psaty, B.M.1    O'Donnell, C.J.2    Gudnason, V.3
  • 17
    • 84880062762 scopus 로고    scopus 로고
    • Best practices and joint calling of the HumanExome BeadChip: The CHARGE Consortium
    • Grove ML, Yu B, Cochran BJ, et al. Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One. 2013;8(7):e68095.
    • (2013) PLoS One , vol.8 , Issue.7
    • Grove, M.L.1    Yu, B.2    Cochran, B.J.3
  • 18
    • 84893756641 scopus 로고    scopus 로고
    • Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks
    • Peloso GM, Auer PL, Bis JC, et al; NHLBI GO Exome Sequencing Project. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014;94(2):223-232.
    • (2014) Am J Hum Genet , vol.94 , Issue.2 , pp. 223-232
    • Peloso, G.M.1    Auer, P.L.2    Bis, J.C.3
  • 19
    • 84881613239 scopus 로고    scopus 로고
    • dbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations
    • Liu X, Jian X, Boerwinkle E. dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat. 2013;34(9):E2393-E2402.
    • (2013) Hum Mutat , vol.34 , Issue.9 , pp. E2393-E2402
    • Liu, X.1    Jian, X.2    Boerwinkle, E.3
  • 20
    • 79960763462 scopus 로고    scopus 로고
    • dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
    • Liu X, Jian X, Boerwinkle E. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat. 2011;32(8):894-899.
    • (2011) Hum Mutat , vol.32 , Issue.8 , pp. 894-899
    • Liu, X.1    Jian, X.2    Boerwinkle, E.3
  • 21
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet. 2011;89(1):82-93.
    • (2011) Am J Hum Genet , vol.89 , Issue.1 , pp. 82-93
    • Wu, M.C.1    Lee, S.2    Cai, T.3    Li, Y.4    Boehnke, M.5    Lin, X.6
  • 22
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • Li B, Leal SM. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet. 2008;83(3):311-321.
    • (2008) Am J Hum Genet , vol.83 , Issue.3 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 23
    • 76649136928 scopus 로고    scopus 로고
    • An evaluation of statistical approaches to rare variant analysis in genetic association studies
    • Morris AP, Zeggini E. An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol. 2010;34(2):188-193.
    • (2010) Genet Epidemiol , vol.34 , Issue.2 , pp. 188-193
    • Morris, A.P.1    Zeggini, E.2
  • 24
    • 84926430386 scopus 로고    scopus 로고
    • Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
    • Dong C, Wei P, Jian X, et al. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 2015;24(8):2125-2137.
    • (2015) Hum Mol Genet , vol.24 , Issue.8 , pp. 2125-2137
    • Dong, C.1    Wei, P.2    Jian, X.3
  • 25
    • 84926503617 scopus 로고    scopus 로고
    • In silico prediction of splice-altering single nucleotide variants in the human genome
    • Jian X, Boerwinkle E, Liu X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res. 2014;42(22):13534-13544.
    • (2014) Nucleic Acids Res , vol.42 , Issue.22 , pp. 13534-13544
    • Jian, X.1    Boerwinkle, E.2    Liu, X.3
  • 26
    • 17444393182 scopus 로고    scopus 로고
    • gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians
    • Ivaskevicius V, Jusciute E, Steffens M, et al. gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians. Blood Coagul Fibrinolysis. 2005;16(3):205-208.
    • (2005) Blood Coagul Fibrinolysis , vol.16 , Issue.3 , pp. 205-208
    • Ivaskevicius, V.1    Jusciute, E.2    Steffens, M.3
  • 27
    • 0034161362 scopus 로고    scopus 로고
    • Hypofibrinogenemia in an individual with 2 coding (gamma82 A→G and Bbeta235 P→L) and 2 noncoding mutations
    • Brennan SO, Fellowes AP, Faed JM, George PM. Hypofibrinogenemia in an individual with 2 coding (gamma82 A→G and Bbeta235 P→L) and 2 noncoding mutations. Blood. 2000;95(5):1709-1713.
    • (2000) Blood , vol.95 , Issue.5 , pp. 1709-1713
    • Brennan, S.O.1    Fellowes, A.P.2    Faed, J.M.3    George, P.M.4
  • 28
    • 0033828227 scopus 로고    scopus 로고
    • Hypofibrinogenaemia with compound heterozygosity for two gamma chain mutations - Gamma 82 Ala→Gly and an intron two GT→AT splice site mutation
    • Wyatt J, Brennan SO, May S, George PM. Hypofibrinogenaemia with compound heterozygosity for two gamma chain mutations - gamma 82 Ala→Gly and an intron two GT→AT splice site mutation. Thromb Haemost. 2000;84(3):449-452.
    • (2000) Thromb Haemost , vol.84 , Issue.3 , pp. 449-452
    • Wyatt, J.1    Brennan, S.O.2    May, S.3    George, P.M.4
  • 29
    • 84929516608 scopus 로고    scopus 로고
    • Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans
    • Tang W, Cushman M, Green D, et al. Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans. Am J Hematol. 2015;90(6):534-540.
    • (2015) Am J Hematol , vol.90 , Issue.6 , pp. 534-540
    • Tang, W.1    Cushman, M.2    Green, D.3
  • 30
    • 0347533989 scopus 로고    scopus 로고
    • Fibrinogen B beta polymorphisms do not directly contribute to an altered in vitro clot structure in humans
    • Maghzal GJ, Brennan SO, George PM. Fibrinogen B beta polymorphisms do not directly contribute to an altered in vitro clot structure in humans. Thromb Haemost. 2003;90(6):1021-1028.
    • (2003) Thromb Haemost , vol.90 , Issue.6 , pp. 1021-1028
    • Maghzal, G.J.1    Brennan, S.O.2    George, P.M.3
  • 31
    • 0023771794 scopus 로고
    • A polymorphism at B beta 448 of fibrinogen identified during structural studies of fibrinogen Baltimore II
    • Schmelzer CH, Ebert RF, Bell WR. A polymorphism at B beta 448 of fibrinogen identified during structural studies of fibrinogen Baltimore II. Thromb Res. 1988;52(2):173-177.
    • (1988) Thromb Res , vol.52 , Issue.2 , pp. 173-177
    • Schmelzer, Ch.1    Ebert, R.F.2    Bell, W.R.3
  • 32
    • 0028263506 scopus 로고
    • Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor
    • Chaing S, Clarke B, Sridhara S, et al. Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor. Blood. 1994;83(12):3524-3535.
    • (1994) Blood , vol.83 , Issue.12 , pp. 3524-3535
    • Chaing, S.1    Clarke, B.2    Sridhara, S.3
  • 33
    • 63049094038 scopus 로고    scopus 로고
    • Factor VII deficiency: Clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene
    • Herrmann FH, Wulff K, Auerswald G, et al; Greifswald Factor FVII Deficiency Study Group. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia. 2009;15(1):267-280.
    • (2009) Haemophilia , vol.15 , Issue.1 , pp. 267-280
    • Herrmann, F.H.1    Wulff, K.2    Auerswald, G.3
  • 34
    • 33845967766 scopus 로고    scopus 로고
    • Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
    • Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood. 2007;109(1):112-121.
    • (2007) Blood , vol.109 , Issue.1 , pp. 112-121
    • Goodeve, A.1    Eikenboom, J.2    Castaman, G.3
  • 35
    • 33846026307 scopus 로고    scopus 로고
    • The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study
    • James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood. 2007;109(1):145-154.
    • (2007) Blood , vol.109 , Issue.1 , pp. 145-154
    • James, P.D.1    Notley, C.2    Hegadorn, C.3
  • 36
    • 84863918505 scopus 로고    scopus 로고
    • High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods
    • Corrales I, Catarino S, Ayats J, et al. High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods. Haematologica. 2012;97(7):1003-1007.
    • (2012) Haematologica , vol.97 , Issue.7 , pp. 1003-1007
    • Corrales, I.1    Catarino, S.2    Ayats, J.3
  • 37
    • 0029916821 scopus 로고    scopus 로고
    • Defective dimerization of von Willebrand factor subunits due to a Cys→Arg mutation in type IID von Willebrand disease
    • Schneppenheim R, Brassard J, Krey S, et al. Defective dimerization of von Willebrand factor subunits due to a Cys→Arg mutation in type IID von Willebrand disease. Proc Natl Acad Sci USA. 1996;93(8):3581-3586.
    • (1996) Proc Natl Acad Sci USA , vol.93 , Issue.8 , pp. 3581-3586
    • Schneppenheim, R.1    Brassard, J.2    Krey, S.3
  • 38
    • 0027537705 scopus 로고
    • Recessive inheritance of von Willebrand's disease type I
    • Eikenboom JC, Reitsma PH, Peerlinck KM, Briët E. Recessive inheritance of von Willebrand's disease type I. Lancet. 1993;341(8851):982-986.
    • (1993) Lancet , vol.341 , Issue.8851 , pp. 982-986
    • Eikenboom, J.C.1    Reitsma, P.H.2    Peerlinck, K.M.3    Briët, E.4
  • 39
    • 0026605718 scopus 로고
    • von Willebrand disease masquerading as haemophilia A
    • Mazurier C. von Willebrand disease masquerading as haemophilia A. Thromb Haemost. 1992;67(4):391-396.
    • (1992) Thromb Haemost , vol.67 , Issue.4 , pp. 391-396
    • Mazurier, C.1
  • 40
    • 0026557952 scopus 로고
    • A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele
    • Peerlinck K, Eikenboom JC, Ploos Van Amstel HK, et al. A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. Br J Haematol. 1992;80(3):358-363.
    • (1992) Br J Haematol , vol.80 , Issue.3 , pp. 358-363
    • Peerlinck, K.1    Eikenboom, J.C.2    Van Ploos Amstel, H.K.3
  • 41
    • 0025817840 scopus 로고
    • The "Normandy" variant of von Willebrand disease: Characterization of a point mutation in the von Willebrand factor gene
    • Gaucher C, Jorieux S, Mercier B, Oufkir D, Mazurier C. The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene. Blood. 1991;77(9):1937-1941.
    • (1991) Blood , vol.77 , Issue.9 , pp. 1937-1941
    • Gaucher, C.1    Jorieux, S.2    Mercier, B.3    Oufkir, D.4    Mazurier, C.5
  • 42
    • 0026002404 scopus 로고
    • Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease
    • Kroner PA, Friedman KD, Fahs SA, Scott JP, Montgomery RR. Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease. J Biol Chem. 1991;266(29):19146-19149.
    • (1991) J Biol Chem , vol.266 , Issue.29 , pp. 19146-19149
    • Kroner, P.A.1    Friedman, K.D.2    Fahs, S.A.3    Scott, J.P.4    Montgomery, R.R.5
  • 43
    • 0025766750 scopus 로고
    • Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction
    • Cacheris PM, Nichols WC, Ginsburg D. Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction. J Biol Chem. 1991;266(21):13499-13502.
    • (1991) J Biol Chem , vol.266 , Issue.21 , pp. 13499-13502
    • Cacheris, P.M.1    Nichols, W.C.2    Ginsburg, D.3
  • 44
    • 34247330151 scopus 로고    scopus 로고
    • A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels
    • Viel KR, Machiah DK, Warren DM, et al. A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. Blood. 2007;109(9):3713-3724.
    • (2007) Blood , vol.109 , Issue.9 , pp. 3713-3724
    • Viel, K.R.1    Machiah, D.K.2    Warren, D.M.3
  • 45
    • 15344341824 scopus 로고    scopus 로고
    • The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels
    • Scanavini D, Legnani C, Lunghi B, Mingozzi F, Palareti G, Bernardi F. The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels. Thromb Haemost. 2005;93(3):453-456.
    • (2005) Thromb Haemost , vol.93 , Issue.3 , pp. 453-456
    • Scanavini, D.1    Legnani, C.2    Lunghi, B.3    Mingozzi, F.4    Palareti, G.5    Bernardi, F.6
  • 46
    • 84899476119 scopus 로고    scopus 로고
    • Guidelines for investigating causality of sequence variants in human disease
    • MacArthur DG, Manolio TA, Dimmock DP, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508(7497):469-476.
    • (2014) Nature , vol.508 , Issue.7497 , pp. 469-476
    • MacArthur, D.G.1    Manolio, T.A.2    Dimmock, D.P.3
  • 47
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-423.
    • (2015) Genet Med , vol.17 , Issue.5 , pp. 405-423
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 48
    • 31744435871 scopus 로고    scopus 로고
    • Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
    • Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet. 2006;38(2):209-213.
    • (2006) Nat Genet , vol.38 , Issue.2 , pp. 209-213
    • Skol, A.D.1    Scott, L.J.2    Abecasis, G.R.3    Boehnke, M.4
  • 49
    • 0024591825 scopus 로고
    • The Atherosclerosis Risk in Communities (ARIC) Study: Design and objectives
    • The ARIC investigators
    • The ARIC Investigators. The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators. Am J Epidemiol. 1989;129(4):687-702.
    • (1989) Am J Epidemiol , vol.129 , Issue.4 , pp. 687-702
  • 50
    • 0024270614 scopus 로고
    • CARDIA: Study design, recruitment, and some characteristics of the examined subjects
    • Friedman GD, Cutter GR, Donahue RP, et al. CARDIA: study design, recruitment, and some characteristics of the examined subjects. J Clin Epidemiol. 1988;41(11):1105-1116.
    • (1988) J Clin Epidemiol , vol.41 , Issue.11 , pp. 1105-1116
    • Friedman, G.D.1    Cutter, G.R.2    Donahue, R.P.3
  • 51
    • 0025913116 scopus 로고
    • The Cardiovascular Health Study: Design and rationale
    • Fried LP, Borhani NO, Enright P, et al. The Cardiovascular Health Study: design and rationale. Ann Epidemiol. 1991;1(3):263-276.
    • (1991) Ann Epidemiol , vol.1 , Issue.3 , pp. 263-276
    • Fried, L.P.1    Borhani, N.O.2    Enright, P.3
  • 53
    • 72949132104 scopus 로고
    • Factors of risk in the development of coronary heart disease-six year follow-up experience. The Framingham Study
    • Kannel WB, Dawber TR, Kagan A, Revotskie N, Stokes J III. Factors of risk in the development of coronary heart disease-six year follow-up experience. The Framingham Study. Ann Intern Med. 1961;55:33-50.
    • (1961) Ann Intern Med , vol.55 , pp. 33-50
    • Kannel, W.B.1    Dawber, T.R.2    Kagan, A.3    Revotskie, N.4    Stokes, J.5
  • 54
    • 35348833023 scopus 로고    scopus 로고
    • Incidence of coronary artery disease in siblings of patients with premature coronary artery disease: 10 Years of follow-up
    • Vaidya D, Yanek LR, Moy TF, Pearson TA, Becker LC, Becker DM. Incidence of coronary artery disease in siblings of patients with premature coronary artery disease: 10 years of follow-up. Am J Cardiol. 2007;100(9):1410-1415.
    • (2007) Am J Cardiol , vol.100 , Issue.9 , pp. 1410-1415
    • Vaidya, D.1    Yanek, L.R.2    Moy, T.F.3    Pearson, T.A.4    Becker, L.C.5    Becker, D.M.6
  • 55
    • 23844467739 scopus 로고    scopus 로고
    • KORA - A research platform for population based health research
    • Holle R, Happich M, Löwel H, Wichmann HE; MONICA/KORA Study Group. KORA-a research platform for population based health research. Gesundheitswesen. 2005;67(Suppl 1):S19-S25.
    • (2005) Gesundheitswesen , vol.67 , pp. S19-S25
    • Holle, R.1    Happich, M.2    Löwel, H.3    Wichmann, H.E.4
  • 56
    • 23844472247 scopus 로고    scopus 로고
    • KORA-gen-resource for population genetics, controls and a broad spectrum of disease phenotypes
    • Wichmann HE, Gieger C, Illig T; MONICA/KORA Study Group. KORA-gen-resource for population genetics, controls and a broad spectrum of disease phenotypes. Gesundheitswesen. 2005;67(Suppl 1):S26-S30.
    • (2005) Gesundheitswesen , vol.67 , pp. S26-S30
    • Wichmann, H.E.1    Gieger, C.2    Illig, T.3
  • 57
    • 67549136520 scopus 로고    scopus 로고
    • Genome-wide association study of biochemical traits in Korcula Island, Croatia
    • Zemunik T, Boban M, Lauc G, et al. Genome-wide association study of biochemical traits in Korcula Island, Croatia. Croat Med J. 2009;50(1):23-33.
    • (2009) Croat Med J , vol.50 , Issue.1 , pp. 23-33
    • Zemunik, T.1    Boban, M.2    Lauc, G.3
  • 58
    • 84863447605 scopus 로고    scopus 로고
    • Cohort profile: The Lothian Birth Cohorts of 1921 and 1936
    • Deary IJ, Gow AJ, Pattie A, Starr JM. Cohort profile: the Lothian Birth Cohorts of 1921 and 1936. Int J Epidemiol. 2012;41(6):1576-1584.
    • (2012) Int J Epidemiol , vol.41 , Issue.6 , pp. 1576-1584
    • Deary, I.J.1    Gow, A.J.2    Pattie, A.3    Starr, J.M.4
  • 59
    • 1642455817 scopus 로고    scopus 로고
    • The impact of childhood intelligence on later life: Following up the Scottish mental surveys of 1932 and 1947
    • Deary IJ, Whiteman MC, Starr JM, Whalley LJ, Fox HC. The impact of childhood intelligence on later life: following up the Scottish mental surveys of 1932 and 1947. J Pers Soc Psychol. 2004;86(1):130-147.
    • (2004) J Pers Soc Psychol , vol.86 , Issue.1 , pp. 130-147
    • Deary, I.J.1    Whiteman, M.C.2    Starr, J.M.3    Whalley, L.J.4    Fox, H.C.5
  • 60
    • 38849151645 scopus 로고    scopus 로고
    • The Lothian Birth Cohort 1936: A study to examine influences on cognitive ageing from age 11 to age 70 and beyond
    • Deary IJ, Gow AJ, Taylor MD, et al. The Lothian Birth Cohort 1936: a study to examine influences on cognitive ageing from age 11 to age 70 and beyond. BMC Geriatr. 2007;7:28.
    • (2007) BMC Geriatr , vol.7 , pp. 28
    • Deary, I.J.1    Gow, A.J.2    Taylor, M.D.3
  • 61
    • 0036840537 scopus 로고    scopus 로고
    • Multi-ethnic study of atherosclerosis: Objectives and design
    • Bild DE, Bluemke DA, Burke GL, et al. Multi-ethnic study of atherosclerosis: objectives and design. Am J Epidemiol. 2002;156(9):871-881.
    • (2002) Am J Epidemiol , vol.156 , Issue.9 , pp. 871-881
    • Bild, D.E.1    Bluemke, D.A.2    Burke, G.L.3
  • 62
    • 73549097512 scopus 로고    scopus 로고
    • Genetic variants associated with Lp(a) lipoprotein level and coronary disease
    • Clarke R, Peden JF, Hopewell JC, et al; PROCARDIS Consortium. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med. 2009;361(26):2518-2528.
    • (2009) N Engl J Med , vol.361 , Issue.26 , pp. 2518-2528
    • Clarke, R.1    Peden, J.F.2    Hopewell, J.C.3
  • 63
    • 70349236841 scopus 로고    scopus 로고
    • The Rotterdam Study: 2010 Objectives and design update
    • Hofman A, Breteler MM, van Duijn CM, et al. The Rotterdam Study: 2010 objectives and design update. Eur J Epidemiol. 2009;24(9):553-572.
    • (2009) Eur J Epidemiol , vol.24 , Issue.9 , pp. 553-572
    • Hofman, A.1    Breteler, M.M.2    Van Duijn, C.M.3
  • 64
    • 84890555012 scopus 로고    scopus 로고
    • The Rotterdam Study: 2014 Objectives and design update
    • Hofman A, Darwish Murad S, van Duijn CM, et al. The Rotterdam Study: 2014 objectives and design update. Eur J Epidemiol. 2013;28(11):889-926.
    • (2013) Eur J Epidemiol , vol.28 , Issue.11 , pp. 889-926
    • Hofman, A.1    Darwish Murad, S.2    Van Duijn, C.M.3
  • 65
    • 0025767240 scopus 로고
    • Determinants of disease and disability in the elderly: The Rotterdam Elderly Study
    • Hofman A, Grobbee DE, de Jong PT, van den Ouweland FA. Determinants of disease and disability in the elderly: the Rotterdam Elderly Study. Eur J Epidemiol. 1991;7(4):403-422.
    • (1991) Eur J Epidemiol , vol.7 , Issue.4 , pp. 403-422
    • Hofman, A.1    Grobbee, D.E.2    De Jong, P.T.3    Van Den Ouweland, F.A.4
  • 66
    • 27544438174 scopus 로고    scopus 로고
    • Serum matrix metalloproteinase-3 concentration is influenced by MMP-3 -1612 5A/6A promoter genotype and associated with myocardial infarction
    • Samnegård A, Silveira A, Lundman P, et al. Serum matrix metalloproteinase-3 concentration is influenced by MMP-3 -1612 5A/6A promoter genotype and associated with myocardial infarction. J Intern Med. 2005;258(5):411-419.
    • (2005) J Intern Med , vol.258 , Issue.5 , pp. 411-419
    • Samnegård, A.1    Silveira, A.2    Lundman, P.3
  • 67
    • 79953680469 scopus 로고    scopus 로고
    • Cohort profile: The study of health in Pomerania
    • Völzke H, Alte D, Schmidt CO, et al. Cohort profile: the study of health in Pomerania. Int J Epidemiol. 2011;40(2):294-307.
    • (2011) Int J Epidemiol , vol.40 , Issue.2 , pp. 294-307
    • Völzke, H.1    Alte, D.2    Schmidt, C.O.3
  • 68
    • 39749089905 scopus 로고    scopus 로고
    • Rationale, design, and methodology of the Women's Genome Health Study: A genome-wide association study of more than 25,000 initially healthy american women
    • Ridker PM, Chasman DI, Zee RY, et al; Women's Genome Health Study Working Group. Rationale, design, and methodology of the Women's Genome Health Study: a genome-wide association study of more than 25,000 initially healthy american women. Clin Chem. 2008;54(2):249-255.
    • (2008) Clin Chem , vol.54 , Issue.2 , pp. 249-255
    • Ridker, P.M.1    Chasman, D.I.2    Zee, R.Y.3
  • 69
    • 6844255857 scopus 로고    scopus 로고
    • Design of the Women's Health Initiative clinical trial and observational study
    • The Women's Health Initiative Study Group. Design of the Women's Health Initiative clinical trial and observational study. Control Clin Trials. 1998;19(1):61-109.
    • (1998) Control Clin Trials , vol.19 , Issue.1 , pp. 61-109
  • 70
    • 79952195585 scopus 로고    scopus 로고
    • Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
    • Anderson CA, Boucher G, Lees CW, et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet. 2011;43(3):246-252.
    • (2011) Nat Genet , vol.43 , Issue.3 , pp. 246-252
    • Anderson, C.A.1    Boucher, G.2    Lees, C.W.3
  • 71
    • 0142248735 scopus 로고    scopus 로고
    • The Women's Health Initiative recruitment methods and results
    • Hays J, Hunt JR, Hubbell FA, et al. The Women's Health Initiative recruitment methods and results. Ann Epidemiol. 2003;13(9 Suppl):S18-S77.
    • (2003) Ann Epidemiol , vol.13 , Issue.9 , pp. S18-S77
    • Hays, J.1    Hunt, J.R.2    Hubbell, F.A.3


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