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Volumn 8, Issue 9, 2007, Pages 1179-1189

Apolipoprotein polymorphisms and familial hypercholesterolemia

Author keywords

Apolipoproteins; Cluster; Familial hypercolesterolemia; Low density lipoprotein receptor; Polymorphism

Indexed keywords

ANTILIPEMIC AGENT; APOLIPOPROTEIN; APOLIPOPROTEIN A1; APOLIPOPROTEIN A2; APOLIPOPROTEIN A4; APOLIPOPROTEIN A5; APOLIPOPROTEIN B100; APOLIPOPROTEIN B48; APOLIPOPROTEIN C1; APOLIPOPROTEIN C2; APOLIPOPROTEIN C3; APOLIPOPROTEIN E2; APOLIPOPROTEIN E3; APOLIPOPROTEIN E4; APOLIPOPROTEIN M; CHYLOMICRON; GUANINE; HIGH DENSITY LIPOPROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MESSENGER RNA; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; SCAVENGER RECEPTOR BI; THYMIDINE; TRIACYLGLYCEROL; UNINDEXED DRUG; VERY LOW DENSITY LIPOPROTEIN;

EID: 35348908391     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/14622416.8.9.1179     Document Type: Review
Times cited : (17)

References (89)
  • 2
    • 0026779207 scopus 로고
    • Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolemia and premature coronary artery disease
    • Tybjaerg-Hansen A. Humphries SE: Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atheroclerosis 96, 91-107 (1992).
    • (1992) Atheroclerosis , vol.96 , pp. 91-107
    • Tybjaerg-Hansen, A.1    Humphries, S.E.2
  • 3
    • 0037603589 scopus 로고    scopus 로고
    • Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
    • Abifadel M, Varret M, Rabes JP et al.: Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet. 34, 154-156 (2003).
    • (2003) Nat. Genet , vol.34 , pp. 154-156
    • Abifadel, M.1    Varret, M.2    Rabes, J.P.3
  • 4
    • 3042800597 scopus 로고    scopus 로고
    • FH-clinical phenotype in Greek patients with LDL-R defective vs. negative mutations
    • Dedoussis GV, Skoumas J, Pitsavos C et al.: FH-clinical phenotype in Greek patients with LDL-R defective vs. negative mutations. Eur J. Clin. Invest. 34, 402-409 (2004).
    • (2004) Eur J. Clin. Invest , vol.34 , pp. 402-409
    • Dedoussis, G.V.1    Skoumas, J.2    Pitsavos, C.3
  • 5
    • 0034268668 scopus 로고    scopus 로고
    • Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype
    • Bertolini S, Cantafora A, Averna M et al.: Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype. Arterioscler. Thromb. Vasc. Biol. 20, E41-E52 (2000).
    • (2000) Arterioscler. Thromb. Vasc. Biol , vol.20
    • Bertolini, S.1    Cantafora, A.2    Averna, M.3
  • 6
    • 33748088504 scopus 로고    scopus 로고
    • Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison
    • Pisciotta L, Priore Oliva C, Pes GM et al.: Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atherosclerosis 188, 398-405 (2006).
    • (2006) Atherosclerosis , vol.188 , pp. 398-405
    • Pisciotta, L.1    Priore Oliva, C.2    Pes, G.M.3
  • 7
    • 0020472786 scopus 로고
    • The LDL receptor defect in familial hypercholesterolemia
    • Goldstein JL, Brown MS: The LDL receptor defect in familial hypercholesterolemia. Med. Clin. North Am. 66, 335-362 (1982).
    • (1982) Med. Clin. North Am , vol.66 , pp. 335-362
    • Goldstein, J.L.1    Brown, M.S.2
  • 8
    • 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. 160, 421-429 (2004).
    • (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
  • 9
    • 9644287995 scopus 로고    scopus 로고
    • The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: Data in 2400 patients
    • Jansen AC, van Aalst-Cohen ES, Tanck MW et al.: The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J. Intern. Med. 256, 482-490 (2004).
    • (2004) J. Intern. Med , vol.256 , pp. 482-490
    • Jansen, A.C.1    van Aalst-Cohen, E.S.2    Tanck, M.W.3
  • 11
    • 2342592460 scopus 로고    scopus 로고
    • Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia
    • Bertolini S, Pisciotta L, di Scala L et al.: Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia. Atheroclerosis 174, 57-65 (2004).
    • (2004) Atheroclerosis , vol.174 , pp. 57-65
    • Bertolini, S.1    Pisciotta, L.2    di Scala, L.3
  • 12
    • 0029091696 scopus 로고
    • Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation
    • Ferrieres J, Lambert J, Lussier-Cacan S, Davignon J: Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation. Circulation 92, 290-295 (1995).
    • (1995) Circulation , vol.92 , pp. 290-295
    • Ferrieres, J.1    Lambert, J.2    Lussier-Cacan, S.3    Davignon, J.4
  • 13
    • 0031838215 scopus 로고    scopus 로고
    • Phenotypic variation in heterozygous familial hypercholesterolemia: A comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada
    • Pimstone SN, Sun XM, du Souich C et al.: Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada. Arterioscler. Thromb. Vasc. Biol. 18, 309-315 (1998).
    • (1998) Arterioscler. Thromb. Vasc. Biol , vol.18 , pp. 309-315
    • Pimstone, S.N.1    Sun, X.M.2    du Souich, C.3
  • 14
    • 0024425420 scopus 로고
    • Differential effects of dietary fat on the tissue-specific expression of the apolipoprotein A-I gene: Relationship to plasma concentration of high density lipoproteins
    • Sorci-Thomas M, Prack MM, Dashti N et al.: Differential effects of dietary fat on the tissue-specific expression of the apolipoprotein A-I gene: relationship to plasma concentration of high density lipoproteins. J. Lipid. Res. 30, 1397-1403 (1989).
    • (1989) J. Lipid. Res , vol.30 , pp. 1397-1403
    • Sorci-Thomas, M.1    Prack, M.M.2    Dashti, N.3
  • 15
    • 0021954138 scopus 로고
    • Modulation of lipoprotein lipase activity by apolipoproteins. Effect of apolipoprotein C-III
    • Wang CS, McConathy WJ, Kloer, HU, Alaupovic P: Modulation of lipoprotein lipase activity by apolipoproteins. Effect of apolipoprotein C-III. J. Clin. Invest. 75, 384-390 (1985).
    • (1985) J. Clin. Invest , vol.75 , pp. 384-390
    • Wang, C.S.1    McConathy, W.J.2    Kloer, H.U.3    Alaupovic, P.4
  • 16
    • 0030911585 scopus 로고    scopus 로고
    • Chylomicronemia due to apolipoprotein CIII overexpression in apolipoprotein E-null mice. Apolipoprotein CIII-induced hypertriglyceridemia is not mediated by effects on apolipoprotein E
    • Ebara T, Ramakrishnan R, Steiner G, Shachter NS: Chylomicronemia due to apolipoprotein CIII overexpression in apolipoprotein E-null mice. Apolipoprotein CIII-induced hypertriglyceridemia is not mediated by effects on apolipoprotein E. J. Clin. Invest. 99, 2672-2681 (1997).
    • (1997) J. Clin. Invest , vol.99 , pp. 2672-2681
    • Ebara, T.1    Ramakrishnan, R.2    Steiner, G.3    Shachter, N.S.4
  • 18
    • 0018766193 scopus 로고
    • An apolipoprotein homolog of rat apolipoprotein A-IV in human plasma. Isolation and partial characterisation
    • Beisiegel U, Utermann G: An apolipoprotein homolog of rat apolipoprotein A-IV in human plasma. Isolation and partial characterisation. Eur. J. Biochem. 93, 601-608 (1979).
    • (1979) Eur. J. Biochem , vol.93 , pp. 601-608
    • Beisiegel, U.1    Utermann, G.2
  • 19
    • 0039136346 scopus 로고    scopus 로고
    • A novel human apolipoprotein (apoM)
    • Xu N, Dahlback B: A novel human apolipoprotein (apoM). J. Biol. Chem. 274, 31286-31290 (1999).
    • (1999) J. Biol. Chem , vol.274 , pp. 31286-31290
    • Xu, N.1    Dahlback, B.2
  • 20
    • 3042560032 scopus 로고    scopus 로고
    • Characterization of apoM in normal and genetically modified mice
    • Faber K, Axler O, Dahlback B, Nielsen LB: Characterization of apoM in normal and genetically modified mice. J. Lipid. Res. 45, 1272-1278 (2004).
    • (2004) J. Lipid. Res , vol.45 , pp. 1272-1278
    • Faber, K.1    Axler, O.2    Dahlback, B.3    Nielsen, L.B.4
  • 21
    • 17644393111 scopus 로고    scopus 로고
    • Apolipoprotein M is required for preβ-HDL formation and cholesterol efflux to HDL and protects against Atherosclerosis
    • Wolfrum C, Poy MN, Stoffel M: Apolipoprotein M is required for preβ-HDL formation and cholesterol efflux to HDL and protects against Atherosclerosis Nat. Med. 11, 418-422 (2005).
    • (2005) Nat. Med , vol.11 , pp. 418-422
    • Wolfrum, C.1    Poy, M.N.2    Stoffel, M.3
  • 23
    • 0035812707 scopus 로고    scopus 로고
    • An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing
    • Pennacchio, LA, Olivier M, Hubacek JA et al.: An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science 294, 169-173 (2001).
    • (2001) Science , vol.294 , pp. 169-173
    • Pennacchio, L.A.1    Olivier, M.2    Hubacek, J.A.3
  • 24
    • 0035977037 scopus 로고    scopus 로고
    • Apolipoprotein A-V: A novel apolipoprotein associated with an early phase of liver regeneration
    • van der Vliet HN, Sammels MG, Leegwater AC et al.: Apolipoprotein A-V: a novel apolipoprotein associated with an early phase of liver regeneration. J. Biol. Chem., 276. 44512-44520 (2001).
    • (2001) J. Biol. Chem , vol.276 , pp. 44512-44520
    • van der Vliet, H.N.1    Sammels, M.G.2    Leegwater, A.C.3
  • 25
    • 0026764308 scopus 로고
    • Marked reduction of high density lipoprotein cholesterol in mice genetically modified to lack apolipoprotein A-I
    • Williamson R, Lee D, Hagaman J. Maeda N. Marked reduction of high density lipoprotein cholesterol in mice genetically modified to lack apolipoprotein A-I. Proc. Natl Acad. Sci. USA 89, 7134-7138 (1992).
    • (1992) Proc. Natl Acad. Sci. USA , vol.89 , pp. 7134-7138
    • Williamson, R.1    Lee, D.2    Hagaman, J.3    Maeda, N.4
  • 26
    • 0020003095 scopus 로고
    • Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease
    • Schaefer EJ, Heaton WH, Wetzel MG, Brewer HB Jr: Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. Arteriosclerosis 2, 16-26 (1982).
    • (1982) Arteriosclerosis , vol.2 , pp. 16-26
    • Schaefer, E.J.1    Heaton, W.H.2    Wetzel, M.G.3    Brewer Jr, H.B.4
  • 27
    • 26844431924 scopus 로고    scopus 로고
    • Increased atherosclerosis in mice lacking apolipoprotein A-I attributable to both impaired reverse cholesterol transport and increased inflammation
    • Moore RE, Navab M. Millar JS et al.: Increased atherosclerosis in mice lacking apolipoprotein A-I attributable to both impaired reverse cholesterol transport and increased inflammation. Circ. Res. 97, 763-771 (2005).
    • (2005) Circ. Res , vol.97 , pp. 763-771
    • Moore, R.E.1    Navab, M.2    Millar, J.S.3
  • 28
    • 11844280278 scopus 로고    scopus 로고
    • Genetics of variation in HDL cholesterol in humans and mice
    • Wang X, Palgen B: Genetics of variation in HDL cholesterol in humans and mice. Circ. Res. 96, 27-42 (2005).
    • (2005) Circ. Res , vol.96 , pp. 27-42
    • Wang, X.1    Palgen, B.2
  • 29
    • 0025030698 scopus 로고
    • Hypertiglyceridemia as a result of human apo CIII gene expression in transgenic mice
    • Ito Y, Azrolan N, O'Connell A, Walsh A, Breslow JL: Hypertiglyceridemia as a result of human apo CIII gene expression in transgenic mice. Science 249, 790-793 (1990).
    • (1990) Science , vol.249 , pp. 790-793
    • Ito, Y.1    Azrolan, N.2    O'Connell, A.3    Walsh, A.4    Breslow, J.L.5
  • 30
    • 0027989828 scopus 로고
    • Targeted disruption of the apolipoprotein C-III gene in mice results in hypotriglyceridemia and protection from postprandial hypertriglyceridemia
    • Maeda N, Li H, Lee D, Oliver P, Quarfordt SH, Osada J: Targeted disruption of the apolipoprotein C-III gene in mice results in hypotriglyceridemia and protection from postprandial hypertriglyceridemia. J. Biol. Chem. 269, 23610-23616 (1994).
    • (1994) J. Biol. Chem , vol.269 , pp. 23610-23616
    • Maeda, N.1    Li, H.2    Lee, D.3    Oliver, P.4    Quarfordt, S.H.5    Osada, J.6
  • 31
    • 3142782906 scopus 로고    scopus 로고
    • Genetic determinants of low high-density lipoprotein cholesterol
    • Miller M, Zhan M: Genetic determinants of low high-density lipoprotein cholesterol. Curr. Opin. Cardiol. 19, 380-384 (2004).
    • (2004) Curr. Opin. Cardiol , vol.19 , pp. 380-384
    • Miller, M.1    Zhan, M.2
  • 32
    • 0035200547 scopus 로고    scopus 로고
    • Genetic influences on lipid metabolism trait variability within the Stanislas cohort
    • Pallaud. C, Gueguen R. Sass C et al.: Genetic influences on lipid metabolism trait variability within the Stanislas cohort. J. Lipid. Res. 42, 1879-1890 (2001).
    • (2001) J. Lipid. Res , vol.42 , pp. 1879-1890
    • Pallaud, C.1    Gueguen, R.2    Sass, C.3
  • 33
    • 0036136232 scopus 로고    scopus 로고
    • Polyunsaturated fatty acids modulate the effects of the APOA1 G-A polymorphism on HDL-cholesterol concentrations in a sex-speciftc manner: The Framingham Study
    • Ordovas JM, Corella D. Cupples LA et al.: Polyunsaturated fatty acids modulate the effects of the APOA1 G-A polymorphism on HDL-cholesterol concentrations in a sex-speciftc manner: the Framingham Study. Am. J. Clin. Nutr. 75, 38-46 (2002).
    • (2002) Am. J. Clin. Nutr , vol.75 , pp. 38-46
    • Ordovas, J.M.1    Corella, D.2    Cupples, L.A.3
  • 34
    • 0242493007 scopus 로고    scopus 로고
    • Brown S, Ordovas JM. Campos H: Interaction between the APOC3 gene promoter polymorphisms, saturated fat intake and plasma lipoproteins. Atherosclerosis 170, 307-313 (2003).
    • Brown S, Ordovas JM. Campos H: Interaction between the APOC3 gene promoter polymorphisms, saturated fat intake and plasma lipoproteins. Atherosclerosis 170, 307-313 (2003).
  • 35
    • 33745606435 scopus 로고    scopus 로고
    • The contribution of individual and pairwise combinations of SNPs in the APOA1 and APOC3 genes to interindividual HDL-C variability
    • Brown CM, Rea TJ. Hamon SC et al.: The contribution of individual and pairwise combinations of SNPs in the APOA1 and APOC3 genes to interindividual HDL-C variability. J. Mol. Med. 84. 561-572 (2006).
    • (2006) J. Mol. Med , vol.84 , pp. 561-572
    • Brown, C.M.1    Rea, T.J.2    Hamon, S.C.3
  • 36
    • 2942715373 scopus 로고    scopus 로고
    • Genetic effect of two polymorphisms in the apolipoprotein A5 gene and apolipoprotein C3 gene on serum lipids and lipoproteins levels in a Chinese population
    • Li GP, Wang JY. Yan SK, Chen BS, Xue H, Wu G: Genetic effect of two polymorphisms in the apolipoprotein A5 gene and apolipoprotein C3 gene on serum lipids and lipoproteins levels in a Chinese population. Clin. Genet. 65, 470-476 (2004).
    • (2004) Clin. Genet , vol.65 , pp. 470-476
    • Li, G.P.1    Wang, J.Y.2    Yan, S.K.3    Chen, B.S.4    Xue, H.5    Wu, G.6
  • 37
    • 0345832332 scopus 로고    scopus 로고
    • Lai CQ. Tai ES, Tan CE et al.: The APOA5 locus is a strong determinant of plasma triglyceride concentrations across ethnic groups in Singapore. J. Lipid. Res. 44, 2365-2373 (2003).
    • Lai CQ. Tai ES, Tan CE et al.: The APOA5 locus is a strong determinant of plasma triglyceride concentrations across ethnic groups in Singapore. J. Lipid. Res. 44, 2365-2373 (2003).
  • 38
    • 17144407867 scopus 로고    scopus 로고
    • Influence of the APOA5 locus on plasma triglyceride, lipoprotein subclasses, and CVD risk in the Framingham Heart Study
    • Lai CQ, Demissie S, Cupples LA et al.: Influence of the APOA5 locus on plasma triglyceride, lipoprotein subclasses, and CVD risk in the Framingham Heart Study J Lipid. Res. 45, 2096-2105 (2004).
    • (2004) J Lipid. Res , vol.45 , pp. 2096-2105
    • Lai, C.Q.1    Demissie, S.2    Cupples, L.A.3
  • 39
    • 1642465470 scopus 로고    scopus 로고
    • APOA5 gene variants, lipoprotein particle distribution, and progression of coronary heart disease: Results from the LOCAT study
    • Talmud PJ, Martin S, Taskinen MR et al.: APOA5 gene variants, lipoprotein particle distribution, and progression of coronary heart disease: results from the LOCAT study. J. Lipid. Res. 45, 750-756 (2004).
    • (2004) J. Lipid. Res , vol.45 , pp. 750-756
    • Talmud, P.J.1    Martin, S.2    Taskinen, M.R.3
  • 40
    • 9144257873 scopus 로고    scopus 로고
    • Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia
    • Eichenbaum-Voline S, Olivier M, Jones EL et al.: Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia. Arterioscler. Thromb. Vasc. Biol. 24, 167-174 (2004).
    • (2004) Arterioscler. Thromb. Vasc. Biol , vol.24 , pp. 167-174
    • Eichenbaum-Voline, S.1    Olivier, M.2    Jones, E.L.3
  • 43
    • 0024299370 scopus 로고
    • Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology
    • Mahley RW: Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 240, 622-630 (1988).
    • (1988) Science , vol.240 , pp. 622-630
    • Mahley, R.W.1
  • 44
    • 0021824223 scopus 로고
    • Role of the apolipoprotein E polymorphism in determining normal plasm lipid and lipoprotein variation
    • Sing CF, Davignon J: Role of the apolipoprotein E polymorphism in determining normal plasm lipid and lipoprotein variation. Am. J. Hum. Genet. 37, 268-285 (1985).
    • (1985) Am. J. Hum. Genet , vol.37 , pp. 268-285
    • Sing, C.F.1    Davignon, J.2
  • 45
    • 0022644527 scopus 로고
    • Apolipoprotein E polymorphism in the Finnish population: Gene frequencies and relation to lipoprotein concentrations
    • Ehnholm C, Lukka M, Kuusi T, Nikkila E, Utermann G: Apolipoprotein E polymorphism in the Finnish population: gene frequencies and relation to lipoprotein concentrations. J. Lipid. Res. 27, 227-235 (1986).
    • (1986) J. Lipid. Res , vol.27 , pp. 227-235
    • Ehnholm, C.1    Lukka, M.2    Kuusi, T.3    Nikkila, E.4    Utermann, G.5
  • 46
    • 0023860891 scopus 로고
    • Apolipoprotein E polymorphism and atherosclerosis
    • Davignon J, Gregg RE. Sing CF: Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8, 1-21 (1988).
    • (1988) Arteriosclerosis , vol.8 , pp. 1-21
    • Davignon, J.1    Gregg, R.E.2    Sing, C.F.3
  • 47
    • 0025816694 scopus 로고
    • Influences of common variants of apolipoprotein E on measures of lipid metabolism in a sample selected for health
    • Xhignesse M, Lussier-Cacan S, Sing CF, Kessling AM, Davignon J: Influences of common variants of apolipoprotein E on measures of lipid metabolism in a sample selected for health. Arterioscler. Thromb. 11, 1100-1110 (1991).
    • (1991) Arterioscler. Thromb , vol.11 , pp. 1100-1110
    • Xhignesse, M.1    Lussier-Cacan, S.2    Sing, C.F.3    Kessling, A.M.4    Davignon, J.5
  • 48
    • 0025262456 scopus 로고
    • Apolipoprotein E phenotypes in Finnish youths: A cross-sectional and 6-year follow-up study
    • Lehtimaki T, Moilanen T, Viikari J et al.: Apolipoprotein E phenotypes in Finnish youths: a cross-sectional and 6-year follow-up study. J. Lipid. Res. 31, 487-495 (1990).
    • (1990) J. Lipid. Res , vol.31 , pp. 487-495
    • Lehtimaki, T.1    Moilanen, T.2    Viikari, J.3
  • 49
    • 34248153778 scopus 로고    scopus 로고
    • Influence of apolipoprotein E polymorphism on serum lipid and lipoprotein changes: A 21-year follow-up study from childhood to adulthood. The Cardiovascular Risk in Young Finns Study
    • Gronroos P. Raitakari OT, Kahonen M et al.: Influence of apolipoprotein E polymorphism on serum lipid and lipoprotein changes: a 21-year follow-up study from childhood to adulthood. The Cardiovascular Risk in Young Finns Study. Clin. Chem. Lab. Med. 45, 592-598 (2007).
    • (2007) Clin. Chem. Lab. Med , vol.45 , pp. 592-598
    • Gronroos, P.1    Raitakari, O.T.2    Kahonen, M.3
  • 50
    • 13844271932 scopus 로고    scopus 로고
    • The association of the apolipoprotein E gene promoter polymorphisms and haplotypes with serum lipid and lipoprotein concentrations
    • Vilri LE, Loimaala A, Nenonen A et al.: The association of the apolipoprotein E gene promoter polymorphisms and haplotypes with serum lipid and lipoprotein concentrations. Atherosclerosis 179, 161-167 (2005).
    • (2005) Atherosclerosis , vol.179 , pp. 161-167
    • Vilri, L.E.1    Loimaala, A.2    Nenonen, A.3
  • 51
    • 33744784279 scopus 로고    scopus 로고
    • Relations of APOE promoter polymorphisms to LDL cholesterol and markers of subclinical atherosclerosis in young adults
    • Viiri LE. Raitakari OT, Huhtala H et al.: Relations of APOE promoter polymorphisms to LDL cholesterol and markers of subclinical atherosclerosis in young adults. J. lipid. Res. 47, 1298-1306 (2006).
    • (2006) J. lipid. Res , vol.47 , pp. 1298-1306
    • Viiri, L.E.1    Raitakari, O.T.2    Huhtala, H.3
  • 52
    • 3142706539 scopus 로고    scopus 로고
    • Meta-analysis: Apolipoprotein E genotypes and risk for coronary heart disease
    • Song Y, Stampfer MJ, Liu S: Meta-analysis: apolipoprotein E genotypes and risk for coronary heart disease. Ann. Intern. Med. 141, 137-147 (2004).
    • (2004) Ann. Intern. Med , vol.141 , pp. 137-147
    • Song, Y.1    Stampfer, M.J.2    Liu, S.3
  • 53
    • 2542453270 scopus 로고    scopus 로고
    • Effect of apolipoprotein E4 allelé on plasma LDL cholesterol response to diet therapy in type 2 diabetic patients
    • Saito M, Eto M, Nitta H et al.: Effect of apolipoprotein E4 allelé on plasma LDL cholesterol response to diet therapy in type 2 diabetic patients. Diabetes Care. 27, 1276-1280 (2004).
    • (2004) Diabetes Care , vol.27 , pp. 1276-1280
    • Saito, M.1    Eto, M.2    Nitta, H.3
  • 54
    • 0025324544 scopus 로고
    • Genetic polymorphism of human plasma apolipoprotein A-IV is due to nucleotide substitutions in the apolipoprotein A-IV gene
    • Lohse P, Kindt MR, Rader DJ, Brewer HB Jr: Genetic polymorphism of human plasma apolipoprotein A-IV is due to nucleotide substitutions in the apolipoprotein A-IV gene. J. Biol. Chem. 265, 10061-10064 (1990).
    • (1990) J. Biol. Chem , vol.265 , pp. 10061-10064
    • Lohse, P.1    Kindt, M.R.2    Rader, D.J.3    Brewer Jr, H.B.4
  • 55
    • 0028136021 scopus 로고    scopus 로고
    • McCombs RJ. Marcadis DE, Ellis J. Weinberg RB: Attenuated hypercholesterolemic response to a high-cholesterol diet in subjects heterozygous for the apolipoprotein A-IV-2 allele. N. Engl. J. Med. 331, 706-710 (1994).
    • McCombs RJ. Marcadis DE, Ellis J. Weinberg RB: Attenuated hypercholesterolemic response to a high-cholesterol diet in subjects heterozygous for the apolipoprotein A-IV-2 allele. N. Engl. J. Med. 331, 706-710 (1994).
  • 56
    • 0030987448 scopus 로고    scopus 로고
    • Urbanization elicits a more atherogenic lipoprotein profile in carriers of the apolipoprotein A-IV-2 allele than in A-IV-1 homozygotes
    • Campos H, Lopez-Miranda, J, Rodriguez C, Albajar M, Schaefer EJ, Ordovas JM: Urbanization elicits a more atherogenic lipoprotein profile in carriers of the apolipoprotein A-IV-2 allele than in A-IV-1 homozygotes. Arterioscler. Thromb. Vasc. Biol. 17, 1074-1081 (1997).
    • (1997) Arterioscler. Thromb. Vasc. Biol , vol.17 , pp. 1074-1081
    • Campos, H.1    Lopez-Miranda, J.2    Rodriguez, C.3    Albajar, M.4    Schaefer, E.J.5    Ordovas, J.M.6
  • 57
    • 0141955276 scopus 로고    scopus 로고
    • Boekholdt SM, Peters RJ, Fountoulaki K, Kastelein JJ. Sijbrands EJ: Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis. Hum. Genet. 113, 417-425 (2003).
    • Boekholdt SM, Peters RJ, Fountoulaki K, Kastelein JJ. Sijbrands EJ: Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis. Hum. Genet. 113, 417-425 (2003).
  • 58
    • 0029838433 scopus 로고    scopus 로고
    • Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: A meta-analysis of population-based prospective studies
    • Hokanson JE, Austin MA: Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: a meta-analysis of population-based prospective studies. J. Cardiovasc. Risk. 3, 213-219 (1996).
    • (1996) J. Cardiovasc. Risk , vol.3 , pp. 213-219
    • Hokanson, J.E.1    Austin, M.A.2
  • 59
    • 0029741921 scopus 로고    scopus 로고
    • A prospective study of triglyceride level, low-density lipoprotein particle diameter, and risk of myocardial infarction
    • Stampfer MJ, Krauss RM, Ma J et al.: A prospective study of triglyceride level, low-density lipoprotein particle diameter, and risk of myocardial infarction. JAMA 276, 882-888 (1996).
    • (1996) JAMA , vol.276 , pp. 882-888
    • Stampfer, M.J.1    Krauss, R.M.2    Ma, J.3
  • 60
    • 0031855022 scopus 로고    scopus 로고
    • Is hypertriglyceridaemia an independent risk factor for coronary heart disease? The epidemiological evidence
    • Miller M: Is hypertriglyceridaemia an independent risk factor for coronary heart disease? The epidemiological evidence. Eur Heart. J. 19(Suppl. H), H18-H22 (1998).
    • (1998) Eur Heart. J , vol.19 , Issue.SUPPL. H
    • Miller, M.1
  • 61
    • 0141841622 scopus 로고    scopus 로고
    • A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia
    • Kao JT, Wen HC, Chien KL, Hsu HC, Lin SW: A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia. Hum. Mol. Genet. 12, 2533-2539 (2003).
    • (2003) Hum. Mol. Genet , vol.12 , pp. 2533-2539
    • Kao, J.T.1    Wen, H.C.2    Chien, K.L.3    Hsu, H.C.4    Lin, S.W.5
  • 62
    • 3042817124 scopus 로고    scopus 로고
    • Analysis of apolipoprotein A5, c3, and plasma triglyceride concentrations in genetically engineered mice
    • Baroukh N, Bauge E, Akiyama J et al.: Analysis of apolipoprotein A5, c3, and plasma triglyceride concentrations in genetically engineered mice. Arterioscler. Thromb. Vasc. Biol. 24, 1297-1302 (2004).
    • (2004) Arterioscler. Thromb. Vasc. Biol , vol.24 , pp. 1297-1302
    • Baroukh, N.1    Bauge, E.2    Akiyama, J.3
  • 63
    • 0020621407 scopus 로고
    • Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia
    • Brunzell JD, Albers JJ, Chait A, Grundy SM,Groszek E, McDonald GB: Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. J. Lipid. Res. 24, 147-155 (1983).
    • (1983) J. Lipid. Res , vol.24 , pp. 147-155
    • Brunzell, J.D.1    Albers, J.J.2    Chait, A.3    Grundy, S.M.4    Groszek, E.5    McDonald, G.B.6
  • 64
    • 0037112882 scopus 로고    scopus 로고
    • Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides
    • Talmud, PJ, Hawe E, Martin S et al.: Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. Hum. Mol. Genet. 11, 3039-3046 (2002).
    • (2002) Hum. Mol. Genet , vol.11 , pp. 3039-3046
    • Talmud, P.J.1    Hawe, E.2    Martin, S.3
  • 65
    • 20244385557 scopus 로고    scopus 로고
    • Association between DNA variant sites in the apolipoprotein A5 gene and coronary heart disease in Chinese
    • Liu H, Zhang S, Lin J et al.: Association between DNA variant sites in the apolipoprotein A5 gene and coronary heart disease in Chinese. Metabolism 54, 568-572 (2005).
    • (2005) Metabolism , vol.54 , pp. 568-572
    • Liu, H.1    Zhang, S.2    Lin, J.3
  • 66
    • 8144225907 scopus 로고    scopus 로고
    • A single nucleotide polymorphism -1131T>C in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and alters triglyceride metabolism in Chinese
    • Bi N, Yan SK, GP Li, Yin ZN, Chen BS: A single nucleotide polymorphism -1131T>C in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and alters triglyceride metabolism in Chinese. Mol. Genet. Metab. 83, 280-286 (2004).
    • (2004) Mol. Genet. Metab , vol.83 , pp. 280-286
    • Bi, N.1    Yan, S.K.2    GP, L.3    Yin, Z.N.4    Chen, B.S.5
  • 67
    • 10744231400 scopus 로고    scopus 로고
    • Polymorphism in the promoter region of the apolipoprotein A5 gene is associated with-an increased susceptibility for coronary artery disease
    • Szalai C, Kesmi M, Duba J et al.: Polymorphism in the promoter region of the apolipoprotein A5 gene is associated with-an increased susceptibility for coronary artery disease. Atherosclerosis 173, 109-114 (2004).
    • (2004) Atherosclerosis , vol.173 , pp. 109-114
    • Szalai, C.1    Kesmi, M.2    Duba, J.3
  • 69
    • 13544275663 scopus 로고    scopus 로고
    • Rationale for using apolipoprotein B and apolipoprotein A-I as indicators of cardiac risk and as targets for lipid-lowering therapy
    • Walldius G, Jungner I: Rationale for using apolipoprotein B and apolipoprotein A-I as indicators of cardiac risk and as targets for lipid-lowering therapy. Eur. Heart J. 26, 210-212 (2005).
    • (2005) Eur. Heart J , vol.26 , pp. 210-212
    • Walldius, G.1    Jungner, I.2
  • 70
    • 4444382796 scopus 로고    scopus 로고
    • Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): Case-control study
    • Yusuf S, Hawken S, Ounpuu S et al.: Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study. Lancet 364, 937-952 (2004).
    • (2004) Lancet , vol.364 , pp. 937-952
    • Yusuf, S.1    Hawken, S.2    Ounpuu, S.3
  • 71
    • 0035894648 scopus 로고    scopus 로고
    • High apolipoprotein B, low apolipoprotein A-I, and improvement in the prediction of fatal myocardial infarction (AMORIS study): A prospective study
    • Walldius G, Jungner I, Holme I, Aastveit AH, Kolar W, Steiner E: High apolipoprotein B, low apolipoprotein A-I, and improvement in the prediction of fatal myocardial infarction (AMORIS study): a prospective study. Lancet 358, 2026-2033 (2001).
    • (2001) Lancet , vol.358 , pp. 2026-2033
    • Walldius, G.1    Jungner, I.2    Holme, I.3    Aastveit, A.H.4    Kolar, W.5    Steiner, E.6
  • 72
    • 8344248639 scopus 로고    scopus 로고
    • Common promoter C516T polymorphism in the ApoB gene is an independent predictor of carotid atherosclerotic disease in subjects presenting a broad range of plasma cholesterol levels
    • Sposito AC, Gonbert S, Turpin G, Chapman MJ, Thinet J: Common promoter C516T polymorphism in the ApoB gene is an independent predictor of carotid atherosclerotic disease in subjects presenting a broad range of plasma cholesterol levels. Arterioscler: Thromb. Vasc. Biol. 24, 2192-2195 (2004).
    • (2004) Arterioscler: Thromb. Vasc. Biol , vol.24 , pp. 2192-2195
    • Sposito, A.C.1    Gonbert, S.2    Turpin, G.3    Chapman, M.J.4    Thinet, J.5
  • 73
    • 0032823407 scopus 로고    scopus 로고
    • A functional polymorphism in the apolipoprotein B promoter that influences the level of plasma low density lipoprotein
    • van't Hooft FM, Jormsjo S. Lundahl B, Tornvall P, Eriksson P, Hamsten A: A functional polymorphism in the apolipoprotein B promoter that influences the level of plasma low density lipoprotein. J. Lipid. Res. 40, 1686-1694 (1999).
    • (1999) J. Lipid. Res , vol.40 , pp. 1686-1694
    • van't Hooft, F.M.1    Jormsjo, S.2    Lundahl, B.3    Tornvall, P.4    Eriksson, P.5    Hamsten, A.6
  • 74
    • 0033543116 scopus 로고    scopus 로고
    • Age-dependent association of apolipoprotein E genotype with coronary and aortic atherosclerosis in middle-aged men: An autopsy study
    • Ilveskoski E, Perola M, Lehtimaki T et al.: Age-dependent association of apolipoprotein E genotype with coronary and aortic atherosclerosis in middle-aged men: an autopsy study. Circulation 100, 608-613 (1999).
    • (1999) Circulation , vol.100 , pp. 608-613
    • Ilveskoski, E.1    Perola, M.2    Lehtimaki, T.3
  • 75
    • 33646545683 scopus 로고    scopus 로고
    • The.effects of apoA-II-III/ A-IV, apoE and apoB polymorphisms on carotid artery intima-media thickness
    • Nieminen T, Kähonen M, Lehtimaki T: The.effects of apoA-II-III/ A-IV, apoE and apoB polymorphisms on carotid artery intima-media thickness. Future Cardiol. 2(2), 179-186 (2006).
    • (2006) Future Cardiol , vol.2 , Issue.2 , pp. 179-186
    • Nieminen, T.1    Kähonen, M.2    Lehtimaki, T.3
  • 76
    • 0023764870 scopus 로고
    • Familial hypercholesterolemia and apolipoprotein E4
    • Eto M, Watanabe K, Chonan N, Ishii K: Familial hypercholesterolemia and apolipoprotein E4. Atherosclerosis 72, 123-128 (1988).
    • (1988) Atherosclerosis , vol.72 , pp. 123-128
    • Eto, M.1    Watanabe, K.2    Chonan, N.3    Ishii, K.4
  • 77
    • 0035859488 scopus 로고    scopus 로고
    • Apolipoprotein E4 and cor onary heart disease in middle-aged men who smoke: A prospective study
    • Humphries SE, Talmud PJ, Hawe E, Bolla M, Day IN, Miller GJ: Apolipoprotein E4 and cor onary heart disease in middle-aged men who smoke: a prospective study. Lancet 358, 115-119 (2001).
    • (2001) Lancet , vol.358 , pp. 115-119
    • Humphries, S.E.1    Talmud, P.J.2    Hawe, E.3    Bolla, M.4    Day, I.N.5    Miller, G.J.6
  • 78
    • 33749548257 scopus 로고    scopus 로고
    • The effect of apolipoprotein E polymorphism on the response to lipid-lowering treatment with atorvastatin or fenofibrate
    • Christidis DS, Liberopoulos EN, Kakafika Al et al.: The effect of apolipoprotein E polymorphism on the response to lipid-lowering treatment with atorvastatin or fenofibrate. J. Cardiovasc. Pharmacol. Ther. 11, 211-221 (2006).
    • (2006) J. Cardiovasc. Pharmacol. Ther , vol.11 , pp. 211-221
    • Christidis, D.S.1    Liberopoulos, E.N.2    Kakafika, A.3
  • 79
    • 29144458061 scopus 로고    scopus 로고
    • Apolipoprotein E polymorphism is not associated with lipid levels and coronary artery disease in Greek patients with familial hypercholesterolaemia
    • Pitsavos C, Choumerianou DM, Skoumas J et al.: Apolipoprotein E polymorphism is not associated with lipid levels and coronary artery disease in Greek patients with familial hypercholesterolaemia. Clin. Exp. Med. 5, 196-201 (2005).
    • (2005) Clin. Exp. Med , vol.5 , pp. 196-201
    • Pitsavos, C.1    Choumerianou, D.M.2    Skoumas, J.3
  • 81
    • 0036182829 scopus 로고    scopus 로고
    • Influence of LDL receptor gene mutation and apo E polymorphism on lipoprotein response to simvastatin treatment among adolescents with heterozygous familial hypercholesterolemia
    • Vohl MC, Szots F, Lelievre M et al.: Influence of LDL receptor gene mutation and apo E polymorphism on lipoprotein response to simvastatin treatment among adolescents with heterozygous familial hypercholesterolemia. Atherosclerosis 160, 361-368 (2002).
    • (2002) Atherosclerosis , vol.160 , pp. 361-368
    • Vohl, M.C.1    Szots, F.2    Lelievre, M.3
  • 82
    • 0034931412 scopus 로고    scopus 로고
    • Importance of HDL cholesterol levels and the total/HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia
    • Real JT, Chaves FJ, Martinez-Uso I, Garcia-Garcia AB, Ascaso JF, Carmena R: Importance of HDL cholesterol levels and the total/HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia. Eur. Heart J. 22, 465-471 (2001).
    • (2001) Eur. Heart J , vol.22 , pp. 465-471
    • Real, J.T.1    Chaves, F.J.2    Martinez-Uso, I.3    Garcia-Garcia, A.B.4    Ascaso, J.F.5    Carmena, R.6
  • 83
    • 0027258008 scopus 로고
    • Relation of lipoprotein(a) to coronary heart disease and duplexsonographic findings of the carotid arteries in heterozygous familial hypercholesterolemia
    • Tato F, Keller C, Schuster H, Spengel F, Wolfram G, Zollner N: Relation of lipoprotein(a) to coronary heart disease and duplexsonographic findings of the carotid arteries in heterozygous familial hypercholesterolemia. Atherosclerosis 101, 69-77 (1993).
    • (1993) Atherosclerosis , vol.101 , pp. 69-77
    • Tato, F.1    Keller, C.2    Schuster, H.3    Spengel, F.4    Wolfram, G.5    Zollner, N.6
  • 84
    • 27144491367 scopus 로고    scopus 로고
    • Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia
    • van Aalst-Cohen ES, Jansen AC, Boekholdt SM et al.: Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia. Eur. J. Hum. Genet. 13, 1137-1142 (2005).
    • (2005) Eur. J. Hum. Genet , vol.13 , pp. 1137-1142
    • van Aalst-Cohen, E.S.1    Jansen, A.C.2    Boekholdt, S.M.3
  • 85
    • 33845234606 scopus 로고    scopus 로고
    • Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in greek familial hypercholesterolemia patients
    • Dedoussis GV, Maumus S, Chournerianou DM et al: Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in greek familial hypercholesterolemia patients. Genet. Test 10, 192-199 (2006).
    • (2006) Genet. Test , vol.10 , pp. 192-199
    • Dedoussis, G.V.1    Maumus, S.2    Chournerianou, D.M.3
  • 86
    • 0034143958 scopus 로고    scopus 로고
    • Quantitative trait locus mapping using human pedigrees
    • Blangero J, Williams JT, Almasy L: Quantitative trait locus mapping using human pedigrees. Hum. Biol. 72, 35-62 (2000).
    • (2000) Hum. Biol , vol.72 , pp. 35-62
    • Blangero, J.1    Williams, J.T.2    Almasy, L.3
  • 87
    • 0035671407 scopus 로고    scopus 로고
    • The genetic architecture of quantitative traits
    • Mackay TF: The genetic architecture of quantitative traits. Annu. Rev. Genet. 35, 303-339 (2001).
    • (2001) Annu. Rev. Genet , vol.35 , pp. 303-339
    • Mackay, T.F.1
  • 88
    • 0035084663 scopus 로고    scopus 로고
    • A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation
    • Nelson MR, Kardia SL, Ferrell RE, Sing CF: A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation. Genome Res. 11, 498-470 (2001).
    • (2001) Genome Res , vol.11 , pp. 498-470
    • Nelson, M.R.1    Kardia, S.L.2    Ferrell, R.E.3    Sing, C.F.4
  • 89
    • 33745110920 scopus 로고    scopus 로고
    • Evidence for consistent intragenic and intergenic interactions between SNP effects in the APOA1/C3/A4/A5 gene cluster
    • Hamon SC, Kardia SL, Boerwinkle E et al.: Evidence for consistent intragenic and intergenic interactions between SNP effects in the APOA1/C3/A4/A5 gene cluster. Hum. Hered. 61, 87-96 (2006).
    • (2006) Hum. Hered , vol.61 , pp. 87-96
    • Hamon, S.C.1    Kardia, S.L.2    Boerwinkle, E.3


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