메뉴 건너뛰기




Volumn 37, Issue 17, 2016, Pages 1384-1394

Mutations causative of familial hypercholesterolaemia: Screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217

Author keywords

APOB mutation; Coronary artery disease; Familial hypercholesterolaemia; General population; Ischaemic heart disease; LDLR mutation; Low density lipoprotein; Myocardial infarction

Indexed keywords

APOLIPOPROTEIN B; HYPOCHOLESTEROLEMIC AGENT; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 84966551189     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehw028     Document Type: Article
Times cited : (333)

References (38)
  • 1
    • 4444328790 scopus 로고    scopus 로고
    • Familial hypercholesterolemia and coronary heart disease: A HuGE association review
    • Austin MA, Hutter CM, Zimmern RL, Humphries SE. Familial hypercholesterolemia and coronary heart disease: A HuGE association review. Am J Epidemiol 2004;160: 421-429.
    • (2004) Am J Epidemiol , vol.160 , pp. 421-429
    • Austin, M.A.1    Hutter, C.M.2    Zimmern, R.L.3    Humphries, S.E.4
  • 4
    • 4444376916 scopus 로고    scopus 로고
    • Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review
    • Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review. Am J Epidemiol 2004;160:407-420.
    • (2004) Am J Epidemiol , vol.160 , pp. 407-420
    • Austin, M.A.1    Hutter, C.M.2    Zimmern, R.L.3    Humphries, S.E.4
  • 7
    • 0014693152 scopus 로고
    • Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states
    • Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969;2:1380-1382.
    • (1969) Lancet , vol.2 , pp. 1380-1382
    • Slack, J.1
  • 8
    • 84868628467 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in the Danish general population: Prevalence, coronary artery disease, and cholesterol-lowering medication
    • Benn M,Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012;97:3956-3964.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 3956-3964
    • Benn, M.1    Watts, G.F.2    Tybjaerg-Hansen, A.3    Nordestgaard, B.G.4
  • 9
    • 84920160399 scopus 로고    scopus 로고
    • Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)
    • Weng SF, Kai J, Andrew NH, Humphries SE, Qureshi N. Improving identification of familial hypercholesterolaemia in primary care: derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT). Atherosclerosis 2015;238:336-343.
    • (2015) Atherosclerosis , vol.238 , pp. 336-343
    • Weng, S.F.1    Kai, J.2    Andrew, N.H.3    Humphries, S.E.4    Qureshi, N.5
  • 15
    • 0344718782 scopus 로고    scopus 로고
    • 2003 World Health Organization (WHO)/International Society of Hypertension (ISH) statement on management of hypertension
    • Whitworth JA. 2003 World Health Organization (WHO)/International Society of Hypertension (ISH) statement on management of hypertension. J Hypertens 2003; 21:1983-1992.
    • (2003) J Hypertens , vol.21 , pp. 1983-1992
    • Whitworth, J.A.1
  • 19
    • 34447511196 scopus 로고    scopus 로고
    • Nonfasting triglycerides and risk of myocardial infarction, ischemic heart disease, and death in men and women
    • Nordestgaard BG, Benn M, Schnohr P, Tybjaerg-Hansen A. Nonfasting triglycerides and risk of myocardial infarction, ischemic heart disease, and death in men and women. JAMA 2007;298:299-308.
    • (2007) JAMA , vol.298 , pp. 299-308
    • Nordestgaard, B.G.1    Benn, M.2    Schnohr, P.3    Tybjaerg-Hansen, A.4
  • 20
    • 0032844431 scopus 로고    scopus 로고
    • Spectrum of LDL receptor gene mutations in Denmark: Implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia
    • Jensen HK, Jensen LG, Meinertz H, Hansen PS, Gregersen N, Faergeman O. Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. Atherosclerosis 1999; 146:337-344.
    • (1999) Atherosclerosis , vol.146 , pp. 337-344
    • Jensen, H.K.1    Jensen, L.G.2    Meinertz, H.3    Hansen, P.S.4    Gregersen, N.5    Faergeman, O.6
  • 22
    • 0038645309 scopus 로고    scopus 로고
    • Comparison of the efficacy and safety of rosuvastatin versus atorvastatin, simvastatin, and pravastatin across doses (STELLAR∗ Trial)
    • Jones PH, Davidson MH, Stein EA, Bays HE, McKenney JM, Miller E, Cain VA, Blasetto JW. Comparison of the efficacy and safety of rosuvastatin versus atorvastatin, simvastatin, and pravastatin across doses (STELLAR∗ Trial). Am J Cardiol 2003; 92:152-160.
    • (2003) Am J Cardiol , vol.92 , pp. 152-160
    • Jones, P.H.1    Davidson, M.H.2    Stein, E.A.3    Bays, H.E.4    McKenney, J.M.5    Miller, E.6    Cain, V.A.7    Blasetto, J.W.8
  • 23
    • 70350245011 scopus 로고    scopus 로고
    • Harmonizing the metabolic syndrome: A joint interim statement of the International Diabetes Federation Task Force on Epidemiology and Prevention; National Heart, Lung, and Blood Institute; American Heart Association;World Heart Federation; International Atherosclerosis Society; And International Association for the Study of Obesity
    • Alberti KG, Eckel RH, Grundy SM, Zimmet PZ, Cleeman JI, Donato KA, Fruchart JC, James WP, Loria CM, Smith SC Jr. Harmonizing the metabolic syndrome: A joint interim statement of the International Diabetes Federation Task Force on Epidemiology and Prevention; National Heart, Lung, and Blood Institute; American Heart Association;World Heart Federation; International Atherosclerosis Society; and International Association for the Study of Obesity. Circulation 2009;120:1640-1645.
    • (2009) Circulation , vol.120 , pp. 1640-1645
    • Alberti, K.G.1    Eckel, R.H.2    Grundy, S.M.3    Zimmet, P.Z.4    Cleeman, J.I.5    Donato, K.A.6    Fruchart, J.C.7    James, W.P.8    Loria, C.M.9    Smith, S.C.10
  • 25
    • 0032574920 scopus 로고    scopus 로고
    • Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease
    • Tybjaerg-Hansen A, Steffensen R, Meinertz H, Schnohr P, Nordestgaard BG. Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. N Engl J Med 1998;338:1577-1584.
    • (1998) N Engl J Med , vol.338 , pp. 1577-1584
    • Tybjaerg-Hansen, A.1    Steffensen, R.2    Meinertz, H.3    Schnohr, P.4    Nordestgaard, B.G.5
  • 26
    • 84916629524 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in the Danish general population: Prevalence, coronary artery disease, and cholesterol-lowering medication; Erratum
    • Benn M,Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication; erratum. J Clin Endocrinol Metab 2014;99: 4758-4759.
    • (2014) J Clin Endocrinol Metab , vol.99 , pp. 4758-4759
    • Benn, M.1    Watts, G.F.2    Tybjaerg-Hansen, A.3    Nordestgaard, B.G.4
  • 29
    • 84864579096 scopus 로고    scopus 로고
    • Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: A crosssectional study in 26,406 individuals tested for genetic FH
    • Huijgen R, Hutten BA, Kindt I, Vissers MN, Kastelein JJ. Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: A crosssectional study in 26,406 individuals tested for genetic FH. Circ Cardiovasc Genet 2012;5:354-359.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 354-359
    • Huijgen, R.1    Hutten, B.A.2    Kindt, I.3    Vissers, M.N.4    Kastelein, J.J.5
  • 32
    • 0035058910 scopus 로고    scopus 로고
    • A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom
    • Heath KE, Humphries SE, Middleton-Price H, Boxer M. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom. Eur J Hum Genet 2001;9:244-252.
    • (2001) Eur J Hum Genet , vol.9 , pp. 244-252
    • Heath, K.E.1    Humphries, S.E.2    Middleton-Price, H.3    Boxer, M.4
  • 33
    • 34748870952 scopus 로고    scopus 로고
    • Child-parent screening for familial hypercholesterolaemia: Screening strategy based on a meta-analysis
    • Wald DS, Bestwick JP,Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ 2007;335:599.
    • (2007) BMJ , vol.335 , pp. 599
    • Wald, D.S.1    Bestwick, J.P.2    Wald, N.J.3
  • 34
    • 77951133898 scopus 로고    scopus 로고
    • The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway
    • Oosterveer DM, Versmissen J, Yazdanpanah M, Defesche JC, Kastelein JJ, Sijbrands EJ. The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway. Eur Heart J 2010;31:1007-1012.
    • (2010) Eur Heart J , vol.31 , pp. 1007-1012
    • Oosterveer, D.M.1    Versmissen, J.2    Yazdanpanah, M.3    Defesche, J.C.4    Kastelein, J.J.5    Sijbrands, E.J.6
  • 37
    • 0016373413 scopus 로고
    • Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia
    • Stone NJ, Levy RI, Fredrickson DS, Verter J. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation 1974;49:476-488.
    • (1974) Circulation , vol.49 , pp. 476-488
    • Stone, N.J.1    Levy, R.I.2    Fredrickson, D.S.3    Verter, J.4
  • 38
    • 84864602990 scopus 로고    scopus 로고
    • Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: A study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants
    • Huijgen R, Kindt I, Defesche JC, Kastelein JJ. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: A study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. Eur Heart J 2012;33:2325-2330.
    • (2012) Eur Heart J , vol.33 , pp. 2325-2330
    • Huijgen, R.1    Kindt, I.2    Defesche, J.C.3    Kastelein, J.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.