메뉴 건너뛰기




Volumn 7, Issue 3 SUPPL., 2013, Pages S1-

Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids

Author keywords

Familial hypercholesterolemia; Genetics; LDL cholesterol; PCSK9; Sequencing

Indexed keywords

ADAPTOR PROTEIN; APOLIPOPROTEIN B; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; SUBTILISIN;

EID: 84877578553     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2013.03.005     Document Type: Article
Times cited : (25)

References (27)
  • 1
    • 52349083201 scopus 로고    scopus 로고
    • Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease - A Mendelian Randomisation study
    • Wellcome Trust Case Control Consortium (WTCCC); Cardiogenics Consortium
    • P. Linsel-Nitschke, A. Götz, J. Erdmann Wellcome Trust Case Control Consortium (WTCCC); Cardiogenics Consortium Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease - a Mendelian Randomisation study PLoS One 3 2008 e2986
    • (2008) PLoS One , vol.3 , pp. 2986
    • Linsel-Nitschke, P.1    Götz, A.2    Erdmann, J.3
  • 2
    • 37249029830 scopus 로고    scopus 로고
    • Genetic heterogeneity of autosomal dominant hypercholesterolemia
    • M. Varret, M. Abifadel, J.P. Rabes, and C. Boileau Genetic heterogeneity of autosomal dominant hypercholesterolemia Clin Genet 73 2008 1 13
    • (2008) Clin Genet , vol.73 , pp. 1-13
    • Varret, M.1    Abifadel, M.2    Rabes, J.P.3    Boileau, C.4
  • 4
    • 77955505564 scopus 로고    scopus 로고
    • Biological, clinical and population relevance of 95 loci for blood lipids
    • T.M. Teslovich, K. Musunuru, and A.V. Smith Biological, clinical and population relevance of 95 loci for blood lipids Nature 466 2010 707 713
    • (2010) Nature , vol.466 , pp. 707-713
    • Teslovich, T.M.1    Musunuru, K.2    Smith, A.V.3
  • 5
    • 33645103550 scopus 로고    scopus 로고
    • Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    • J.C. Cohen, E. Boerwinkle, T.H. Mosley Jr., and H.H. Hobbs Sequence variations in PCSK9, low LDL, and protection against coronary heart disease N Engl J Med 354 2006 1264 1272
    • (2006) N Engl J Med , vol.354 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley, Jr.T.H.3    Hobbs, H.H.4
  • 6
    • 0037541585 scopus 로고    scopus 로고
    • A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
    • D. Marks, M. Thorogood, H.A. Neil, and S.E. Humphries A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia Atherosclerosis 168 2003 1 14
    • (2003) Atherosclerosis , vol.168 , pp. 1-14
    • Marks, D.1    Thorogood, M.2    Neil, H.A.3    Humphries, S.E.4
  • 7
    • 79956278397 scopus 로고    scopus 로고
    • Familial hypercholesterolemias: Prevalence, genetics, diagnosis, and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • P.N. Hopkins, P.P. Toth, C.M. Ballantyne, D.J. Rader National Lipid Association Expert Panel on Familial Hypercholesterolemia Familial hypercholesterolemias: prevalence, genetics, diagnosis, and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia J Clin Lipidol 5 3 Suppl 2011 S9 S17
    • (2011) J Clin Lipidol , vol.5 , Issue.3 SUPPL.
    • Hopkins, P.N.1    Toth, P.P.2    Ballantyne, C.M.3    Rader, D.J.4
  • 8
    • 0015718831 scopus 로고
    • Prospects for the prenatal diagnosis of familial hypercholesterolemia
    • A.K. Khachadurian Prospects for the prenatal diagnosis of familial hypercholesterolemia J Med Liban 26 1973 325 329
    • (1973) J Med Liban , vol.26 , pp. 325-329
    • Khachadurian, A.K.1
  • 9
    • 0011723065 scopus 로고
    • Familial defective apolipoprotein B-100: Low-density lipoproteins with abnormal receptor binding
    • T.L. Innerarity, K.H. Weisgraber, and K.S. Arnold Familial defective apolipoprotein B-100: low-density lipoproteins with abnormal receptor binding Proc Natl Acad Sci USA 84 1987 6919 6923
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 6919-6923
    • Innerarity, T.L.1    Weisgraber, K.H.2    Arnold, K.S.3
  • 10
    • 0037603589 scopus 로고    scopus 로고
    • Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
    • M. Abifadel, M. Varret, and J.P. Rabés Mutations in PCSK9 cause autosomal dominant hypercholesterolemia Nat Genet 34 2003 154 156
    • (2003) Nat Genet , vol.34 , pp. 154-156
    • Abifadel, M.1    Varret, M.2    Rabés, J.P.3
  • 11
  • 12
    • 0242416622 scopus 로고    scopus 로고
    • Molecular mechanisms of autosomal recessive hypercholesterolemia
    • J.C. Cohen, M. Kimmel, A. Polanski, and H.H. Hobbs Molecular mechanisms of autosomal recessive hypercholesterolemia Curr Opin Lipidol 14 2003 121 127
    • (2003) Curr Opin Lipidol , vol.14 , pp. 121-127
    • Cohen, J.C.1    Kimmel, M.2    Polanski, A.3    Hobbs, H.H.4
  • 13
    • 79953732508 scopus 로고    scopus 로고
    • Functional validation of new pathways in lipoprotein metabolism identified by human genetics
    • R.C. Bauer, I.M. Stylianou, and D.J. Rader Functional validation of new pathways in lipoprotein metabolism identified by human genetics Curr Opin Lipidol 22 2011 123 128
    • (2011) Curr Opin Lipidol , vol.22 , pp. 123-128
    • Bauer, R.C.1    Stylianou, I.M.2    Rader, D.J.3
  • 14
    • 84858783318 scopus 로고    scopus 로고
    • Finding genes and variants for lipid levels after genome-wide association analysis
    • C.J. Willer, and K.L. Mohlke Finding genes and variants for lipid levels after genome-wide association analysis Curr Opin Lipidol 23 2012 98 103
    • (2012) Curr Opin Lipidol , vol.23 , pp. 98-103
    • Willer, C.J.1    Mohlke, K.L.2
  • 15
    • 0037126526 scopus 로고    scopus 로고
    • Third report of the National Cholesterol Education Program (NCEP) Expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report
    • Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults
    • Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults Third report of the National Cholesterol Education Program (NCEP) Expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III) final report Circulation 106 2002 3143 3421
    • (2002) Circulation , vol.106 , pp. 3143-3421
  • 16
    • 41549091835 scopus 로고    scopus 로고
    • High density lipoprotein cholesterol: An evolving target of therapy in the management of cardiovascular disease
    • N.K. Kapur, D. Ashen, and R.S. Blumenthal High density lipoprotein cholesterol: an evolving target of therapy in the management of cardiovascular disease Vasc Health Risk Manag 4 2008 39 57
    • (2008) Vasc Health Risk Manag , vol.4 , pp. 39-57
    • Kapur, N.K.1    Ashen, D.2    Blumenthal, R.S.3
  • 17
    • 84864845456 scopus 로고    scopus 로고
    • Plasma HDL cholesterol and risk of myocardial infarction: A Mendelian randomization study
    • B.F. Voight, G.M. Peloso, and M. Orho-Melander Plasma HDL cholesterol and risk of myocardial infarction: a Mendelian randomization study Lancet 380 2012 572 580
    • (2012) Lancet , vol.380 , pp. 572-580
    • Voight, B.F.1    Peloso, G.M.2    Orho-Melander, M.3
  • 18
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    • J. Cohen, A. Pertsemlidis, I.K. Kotowski, R. Graham, C.K. Garcia, and H.H. Hobbs Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9 Nat Genet 37 2005 161 165
    • (2005) Nat Genet , vol.37 , pp. 161-165
    • Cohen, J.1    Pertsemlidis, A.2    Kotowski, I.K.3    Graham, R.4    Garcia, C.K.5    Hobbs, H.H.6
  • 19
    • 33344464808 scopus 로고    scopus 로고
    • A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol
    • I.K. Kotowski, A. Pertsemlidis, and A. Luke A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol Am J Hum Genet 78 2006 410 422
    • (2006) Am J Hum Genet , vol.78 , pp. 410-422
    • Kotowski, I.K.1    Pertsemlidis, A.2    Luke, A.3
  • 20
    • 33947725905 scopus 로고    scopus 로고
    • Statins for primary prevention of coronary artery disease
    • R. McPherson, and N. Kavaslar Statins for primary prevention of coronary artery disease Lancet 369 2007 1078 1079
    • (2007) Lancet , vol.369 , pp. 1078-1079
    • McPherson, R.1    Kavaslar, N.2
  • 21
    • 77953309816 scopus 로고    scopus 로고
    • PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analysis
    • M. Benn, B.G. Nordestgaard, P. Grande, P. Schnohr, and A. Tybaerg-Hansen PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analysis J Am Coll Cardiol 55 2010 2833 2842
    • (2010) J Am Coll Cardiol , vol.55 , pp. 2833-2842
    • Benn, M.1    Nordestgaard, B.G.2    Grande, P.3    Schnohr, P.4    Tybaerg-Hansen, A.5
  • 22
    • 38649125868 scopus 로고    scopus 로고
    • Newly identified loci that influence lipid concentrations and risk of coronary artery disease
    • C.J. Willer, S. Sanna, and A.U. Jackson Newly identified loci that influence lipid concentrations and risk of coronary artery disease Nat Genet 40 2008 161 169
    • (2008) Nat Genet , vol.40 , pp. 161-169
    • Willer, C.J.1    Sanna, S.2    Jackson, A.U.3
  • 23
    • 77958469483 scopus 로고    scopus 로고
    • Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
    • J. Rios, E. Stein, J. Shendure, H.H. Hobbs, and J.C. Cohen Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia Hum Mol Genet 19 2010 4313 4318
    • (2010) Hum Mol Genet , vol.19 , pp. 4313-4318
    • Rios, J.1    Stein, E.2    Shendure, J.3    Hobbs, H.H.4    Cohen, J.C.5
  • 24
    • 34447299120 scopus 로고    scopus 로고
    • The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population
    • A.J. Hooper, A.D. Marais, D.M. Tanyanyiwa, and J.R. Burnett The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population Atherosclerosis 193 2007 445 448
    • (2007) Atherosclerosis , vol.193 , pp. 445-448
    • Hooper, A.J.1    Marais, A.D.2    Tanyanyiwa, D.M.3    Burnett, J.R.4
  • 25
    • 84858638369 scopus 로고    scopus 로고
    • Effect of a monoclonal antibody to PCSK9 on LDL cholesterol
    • E.A. Stein, S. Mellis, and G.D. Yancopoulos Effect of a monoclonal antibody to PCSK9 on LDL cholesterol N Engl J Med 366 2012 1108 1118
    • (2012) N Engl J Med , vol.366 , pp. 1108-1118
    • Stein, E.A.1    Mellis, S.2    Yancopoulos, G.D.3
  • 26
    • 20744442541 scopus 로고    scopus 로고
    • Familial hypobetalipoproteinemia: Genetics and metabolism
    • G. Schonfeld, X. Lin, and P. Yue Familial hypobetalipoproteinemia: genetics and metabolism Cell Mol Life Sci 62 2005 1372 1378
    • (2005) Cell Mol Life Sci , vol.62 , pp. 1372-1378
    • Schonfeld, G.1    Lin, X.2    Yue, P.3
  • 27
    • 78649755576 scopus 로고    scopus 로고
    • Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
    • K. Musunuru, J.P. Pirruccello, and R. Do Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia N Engl J Med 363 2010 2220 2227
    • (2010) N Engl J Med , vol.363 , pp. 2220-2227
    • Musunuru, K.1    Pirruccello, J.P.2    Do, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.