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Volumn 19, Issue 4, 2004, Pages 380-384

Genetic determinants of low high-density lipoprotein cholesterol

Author keywords

Candidate genes; CHD; HDL

Indexed keywords

ABC TRANSPORTER; APOLIPOPROTEIN A1; APOLIPOPROTEIN C3; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 3142782906     PISSN: 02684705     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.hco.0000126584.12520.b5     Document Type: Review
Times cited : (34)

References (65)
  • 1
    • 0023880042 scopus 로고
    • High-density lipoprotein cholesterol, total cholesterol screening and myocardial infarction: The Framingham Study
    • Abbott RD, Wilson PWF, Kannel WB, et al.: High-density lipoprotein cholesterol, total cholesterol screening and myocardial infarction: the Framingham Study. Arteriosclerosis 1988, 8:207-211.
    • (1988) Arteriosclerosis , vol.8 , pp. 207-211
    • Abbott, R.D.1    Wilson, P.W.F.2    Kannel, W.B.3
  • 2
    • 0025060889 scopus 로고
    • Dyslipidemias with desirable total cholesterol and arteriographically demonstrated coronary disease
    • Miller M, Mead LA, Kwiterovich PO, et al.: Dyslipidemias with desirable total cholesterol and arteriographically demonstrated coronary disease. Am J Cardiol 1990, 65:1-5.
    • (1990) Am J Cardiol , vol.65 , pp. 1-5
    • Miller, M.1    Mead, L.A.2    Kwiterovich, P.O.3
  • 3
    • 0026669282 scopus 로고
    • Long-term predictors of subsequent cardiovascular events with coronary artery disease and desirable levels of plasma total cholesterol
    • Miller M, Seidler A, Kwiterovich PO, et al.: Long-term predictors of subsequent cardiovascular events with coronary artery disease and desirable levels of plasma total cholesterol. Circulation 1992, 86:1165-1170.
    • (1992) Circulation , vol.86 , pp. 1165-1170
    • Miller, M.1    Seidler, A.2    Kwiterovich, P.O.3
  • 4
    • 0035897696 scopus 로고    scopus 로고
    • Executive summary of the 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)
    • Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults: Executive summary of the 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). JAMA 2001, 285:2486-2497.
    • (2001) JAMA , vol.285 , pp. 2486-2497
  • 5
    • 0027512278 scopus 로고
    • Genetic and environmental influences on serum lipid levels in twins
    • Heller DA, de Faire U, Pedersen NL, et al.: Genetic and environmental influences on serum lipid levels in twins. N Engl J Med 1993, 328:1150-1156.
    • (1993) N Engl J Med , vol.328 , pp. 1150-1156
    • Heller, D.A.1    De Faire, U.2    Pedersen, N.L.3
  • 6
    • 0026621245 scopus 로고
    • ABC-transporters: From microorganisms to man
    • Higgins CF: ABC-transporters: from microorganisms to man. Ann Rev Cell Biol 1992, 8:67-113.
    • (1992) Ann Rev Cell Biol , vol.8 , pp. 67-113
    • Higgins, C.F.1
  • 7
  • 8
    • 0032813809 scopus 로고    scopus 로고
    • The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
    • Bodzioch M, Orso E, Klucken J, et al.: The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 1999, 22:347-351.
    • (1999) Nat Genet , vol.22 , pp. 347-351
    • Bodzioch, M.1    Orso, E.2    Klucken, J.3
  • 9
    • 0032813660 scopus 로고    scopus 로고
    • Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
    • Rust S, Rosier M, Funke H, et al.: Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999, 22: 352-355.
    • (1999) Nat Genet , vol.22 , pp. 352-355
    • Rust, S.1    Rosier, M.2    Funke, H.3
  • 10
    • 0032813808 scopus 로고    scopus 로고
    • Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
    • Brooks-Wilson A, Marcil M, Clee SM, et al.: Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999, 22: 336-345.
    • (1999) Nat Genet , vol.22 , pp. 336-345
    • Brooks-Wilson, A.1    Marcil, M.2    Clee, S.M.3
  • 11
    • 0034750411 scopus 로고    scopus 로고
    • Cholesterol and apolipoprotein B metabolism in Tangier disease
    • Schaefer EJ, Brousseau ME, Diffenderfer MR, et al.: Cholesterol and apolipoprotein B metabolism in Tangier disease. Atherosclerosis 2001, 159:231-236.
    • (2001) Atherosclerosis , vol.159 , pp. 231-236
    • Schaefer, E.J.1    Brousseau, M.E.2    Diffenderfer, M.R.3
  • 13
    • 0035864677 scopus 로고    scopus 로고
    • Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease
    • Brousseau ME, Bodzioch M, Schaefer EJ, et al.: Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. Atherosclerosis 2001, 154:607-611.
    • (2001) Atherosclerosis , vol.154 , pp. 607-611
    • Brousseau, M.E.1    Bodzioch, M.2    Schaefer, E.J.3
  • 14
    • 0038234823 scopus 로고    scopus 로고
    • ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore
    • Tan JH, Low PS, Tan YS,et al.: ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. Hum Genet 2003, 113:106-117. Genotyped ABCAI polymorphisms in Singapore Chinese, Malay, and Indian populations. Two polymorphisms, V825I and M883I were associated with CAD in the Malay cohort. No unifying genotype-phenotype relationship was observed.
    • (2003) Hum Genet , vol.113 , pp. 106-117
    • Tan, J.H.1    Low, P.S.2    Tan, Y.S.3
  • 15
    • 0242721842 scopus 로고    scopus 로고
    • Novel polypyrimidine variation (IVS46: Del T -39.-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease
    • Hong SH, Rhyne J, Miller M: Novel polypyrimidine variation (IVS46: del T -39.-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease. Circ Res 2003, 93:1006-1012. Proband was an ABCAI compound heterozygote. Variants included R1851Q and nucleotide deletion of thymidine in a polypyrimidine tract, resulting in skipping of exon 47. Polypyrimidine variation provides a third mechanism for altered splicing that had been previously observed with acceptor/donor splice site and lariat branchpoint variation.
    • (2003) Circ Res , vol.93 , pp. 1006-1012
    • Hong, S.H.1    Rhyne, J.2    Miller, M.3
  • 16
    • 11144353792 scopus 로고    scopus 로고
    • In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction
    • February 12
    • Tregouet DA, Ricard S, Nicaud V, et al.: In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Arterioscler Thromb Vasc Biol [serial online] February 12, 2004. Molecular screening of the promoter and coding regions of ABCA1 were performed to evaluate their association with plasma ApoA1 and MI. The R1587K was associated with reduced HDL-C but was unrelated to CHD. In contrast, R219K was associated with reduced CHD (see also [19•,20•]).
    • (2004) Arterioscler Thromb Vasc Biol [Serial Online]
    • Tregouet, D.A.1    Ricard, S.2    Nicaud, V.3
  • 17
    • 0142124350 scopus 로고    scopus 로고
    • A new ABCA1 mutation associated with low HDL cholesterol but without coronary artery disease
    • Kolovou G, Anagnostopoulou K, Cokkinos DV: A new ABCA1 mutation associated with low HDL cholesterol but without coronary artery disease. Atherosclerosis 2003, 169:345-346.
    • (2003) Atherosclerosis , vol.169 , pp. 345-346
    • Kolovou, G.1    Anagnostopoulou, K.2    Cokkinos, D.V.3
  • 18
    • 0037298521 scopus 로고    scopus 로고
    • ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease
    • Kakko S, Kelloniemi J, von Rohr P, et al.: ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease. Atherosclerosis 2003, 166:285-290.
    • (2003) Atherosclerosis , vol.166 , pp. 285-290
    • Kakko, S.1    Kelloniemi, J.2    Von Rohr, P.3
  • 19
    • 0038583684 scopus 로고    scopus 로고
    • The association of the R219K polymorphism in the ATP-binding cassette transporter 1 (ABCA1) gene with coronary heart disease and hyperlipidaemia
    • Evans D, Beil FU: The association of the R219K polymorphism in the ATP-binding cassette transporter 1 (ABCA1) gene with coronary heart disease and hyperlipidaemia. J Mol Med 2003, 81:264-270. The R219K polymorphism was studied in an outpatient German population. After excluding metabolic conditions, the K allele was associated with reduced triglycerides, which the authors propose may account for reduced CHD event rates in affected subjects.
    • (2003) J Mol Med , vol.81 , pp. 264-270
    • Evans, D.1    Beil, F.U.2
  • 20
    • 0037337602 scopus 로고    scopus 로고
    • Spanish FH Group: A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia
    • Cenarro A, Artieda M, Castilio S, et al., Spanish FH Group: A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. J Med Genet 2003, 40:163-168. FH subjects were evaluated for R219K. Extending the findings described in [19•], the K allele of the R219K variant was more prevalent among FH family members who did not have premature CHD. These data reaffirm that this ABCA1 variant may protect against CHD in an otherwise high-risk cohort.
    • (2003) J Med Genet , vol.40 , pp. 163-168
    • Cenarro, A.1    Artieda, M.2    Castilio, S.3
  • 21
    • 0030759445 scopus 로고    scopus 로고
    • Scavenger receptor BI-a cell surface receptor for high density lipoprotein
    • Rigotti A, Trigatti B, Babitt J, et al.: Scavenger receptor BI-a cell surface receptor for high density lipoprotein. Curr Opin Lipidol 1997, 8:181-188.
    • (1997) Curr Opin Lipidol , vol.8 , pp. 181-188
    • Rigotti, A.1    Trigatti, B.2    Babitt, J.3
  • 22
    • 0034816722 scopus 로고    scopus 로고
    • Apolipoprotein specificity for lipid efflux by the human ABCAI transporter
    • Remaley AT, Stonik JA, Demosky SJ, et al.: Apolipoprotein specificity for lipid efflux by the human ABCAI transporter. Biochem Biophys Res Commun 2001, 280:818-823.
    • (2001) Biochem Biophys Res Commun , vol.280 , pp. 818-823
    • Remaley, A.T.1    Stonik, J.A.2    Demosky, S.J.3
  • 23
    • 0344189687 scopus 로고
    • DNA inversion within the apolipoproteins A-I/C-III/A-IV encoding gene cluster of certain patients with premature atherosclerosis
    • Karathanasis SK, Ferris E, Haddad IA: DNA inversion within the apolipoproteins A-I/C-III/A-IV encoding gene cluster of certain patients with premature atherosclerosis. Proc Natl Acad Sci U S A 1987, 84:7198-7202.
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 7198-7202
    • Karathanasis, S.K.1    Ferris, E.2    Haddad, I.A.3
  • 24
    • 0024443049 scopus 로고
    • Familial apolipoprotein A-I, C-III and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11
    • Ordovas JM, Cassidy DK, Civeira F, et al.: Familial apolipoprotein A-I, C-III and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11. J Biol Chem 1989, 264:16339-16342.
    • (1989) J Biol Chem , vol.264 , pp. 16339-16342
    • Ordovas, J.M.1    Cassidy, D.K.2    Civeira, F.3
  • 25
    • 0025846967 scopus 로고
    • Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-J gene
    • Matsunaga T, Hiasa Y, Yanagi H, et al.: Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-J gene. Proc Natl Acad Sci U S A 1991, 88:2793-2797.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 2793-2797
    • Matsunaga, T.1    Hiasa, Y.2    Yanagi, H.3
  • 26
    • 0028157828 scopus 로고
    • Apolipoprotein A-I Q [-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia
    • Ng DS, Leiter LA, Vezina C, et al.: Apolipoprotein A-I Q [-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. J Clin Invest 1994, 93:223-229.
    • (1994) J Clin Invest , vol.93 , pp. 223-229
    • Ng, D.S.1    Leiter, L.A.2    Vezina, C.3
  • 27
    • 0028981906 scopus 로고
    • ApoA-IHelsinki (Lys107→0) associated with reduced HDL cholesterol and LpA-l:A-ll deficiency
    • Tilly-Kiesi M, Zhang Q, Ehnholm S, et al.: ApoA-IHelsinki (Lys107→0) associated with reduced HDL cholesterol and LpA-l:A-ll deficiency. Arterioscler Thromb Vasc Biol 1995, 15:1294-1306.
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1294-1306
    • Tilly-Kiesi, M.1    Zhang, Q.2    Ehnholm, S.3
  • 28
    • 10144236519 scopus 로고    scopus 로고
    • pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease
    • pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease. Circulation 1996, 94:1622-1628.
    • (1996) Circulation , vol.94 , pp. 1622-1628
    • Miccoli, R.1    Bertolotto, A.2    Navalesi, R.3
  • 29
    • 0031815712 scopus 로고    scopus 로고
    • 159 → Pro): HDL cholesterol deficiency in a kindred associated with premature coronary artery disease
    • 159 → Pro): HDL cholesterol deficiency in a kindred associated with premature coronary artery disease. Arterioscler Thromb Vasc Biol 1998, 18:1242-1247.
    • (1998) Arterioscler Thromb Vasc Biol , vol.18 , pp. 1242-1247
    • Miller, M.1    Aielio, D.2    Pritchard, H.3
  • 30
    • 0038801308 scopus 로고    scopus 로고
    • Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency
    • Pisciotta L, Miccoli R, Cantafora A, et al.: Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. Atherosclerosis 2003, 167:335-345. High-density lipoprotein deficiency in three Italian families resulting from APOAI mutations. Despite very low HDL-C, development of premature CHD was related to the presence of other risk factors, once again demonstrating the importance of gene-environmental interactions in triggering premature CHD.
    • (2003) Atherosclerosis , vol.167 , pp. 335-345
    • Pisciotta, L.1    Miccoli, R.2    Cantafora, A.3
  • 31
    • 9144250425 scopus 로고    scopus 로고
    • A novel two nucleotide deletion in the apolipoprotein A-I gene, apoA-I Shinbashi, associated with high density lipoprotein deficiency, corneal opacities, planar xanthomas, and premature coronary artery disease
    • Ikewaki K, Matsunaga A, Han H, et al.: A novel two nucleotide deletion in the apolipoprotein A-I gene, apoA-I Shinbashi, associated with high density lipoprotein deficiency, corneal opacities, planar xanthomas, and premature coronary artery disease. Atherosclerosis 2004, 172:39-45. Obstructive CAD identified in a 51-year-old woman who was homozygous for a 2-bp deletion that results in frameshift and premature truncation of encoded apoAI.
    • (2004) Atherosclerosis , vol.172 , pp. 39-45
    • Ikewaki, K.1    Matsunaga, A.2    Han, H.3
  • 32
    • 0141885325 scopus 로고    scopus 로고
    • Apolipoprotein A-I deficiency results in markedly increased atherosclerosis in mice lacking the LDL receptor
    • -/- mice, despite normal HDL-C levels. The authors propose that apoAI possesses properties that directly protect against atherosclerosis.
    • (2003) Arterioscler Thromb Vasc Biol , vol.23 , pp. 1914-1920
    • Moore, R.E.1    Kawashiri, M.A.2    Kitajima, K.3
  • 33
    • 0037566365 scopus 로고    scopus 로고
    • Long-term stable expression of human apolipoprotein A-I mediated by helper-dependent adenovirus gene transfer inhibits atherosclerosis progression and remodels atherosclerotic plaques in a mouse model of familial hypercholesterolemia
    • Belalcazar LM, Merched A, Carr B, et al.: Long-term stable expression of human apolipoprotein A-I mediated by helper-dependent adenovirus gene transfer inhibits atherosclerosis progression and remodels atherosclerotic plaques in a mouse model of familial hypercholesterolemia. Circulation 2003, 107:26-32. The effect of apoAI overexpression on inhibiting atherosclerotic progression became more evident nearly 7 months into the study, when complex lesions were less likely to develop. HD-Ad-AI treatment yielded a structurally stable-appearing plaque with decreases in subendothelial lipid deposits and adhesion molecule expression. The authors propose that apoAI gene therapy using a HD-Ad vector may have a potential role in secondary prevention.
    • (2003) Circulation , vol.107 , pp. 26-32
    • Belalcazar, L.M.1    Merched, A.2    Carr, B.3
  • 34
    • 0032861594 scopus 로고    scopus 로고
    • Apolipoprotein A-I (R151C)Paris is defective in activation of lecithin: Cholesterol acyltransferase but not in initial lipid binding, formation of reconstituted lipoproteins, or promotion of cholesterol efflux
    • Daum U, Langer C, Duverger N, et al.: Apolipoprotein A-I (R151C)Paris is defective in activation of lecithin: cholesterol acyltransferase but not in initial lipid binding, formation of reconstituted lipoproteins, or promotion of cholesterol efflux. J Mol Med 1999, 77:614-622.
    • (1999) J Mol Med , vol.77 , pp. 614-622
    • Daum, U.1    Langer, C.2    Duverger, N.3
  • 36
    • 0032967387 scopus 로고    scopus 로고
    • Inhibition of arterial thrombus formation by ApoA1 Milano
    • Li D, Weng S, Yang B, et al.: Inhibition of arterial thrombus formation by ApoA1 Milano. Arterioscler Thromb Vasc Biol 1999, 19:378-383.
    • (1999) Arterioscler Thromb Vasc Biol , vol.19 , pp. 378-383
    • Li, D.1    Weng, S.2    Yang, B.3
  • 37
    • 0035901577 scopus 로고    scopus 로고
    • Cardiovascular status of carriers of the apolipoprotein A-I(Milano) mutant: The Limone sul Garda study
    • Sirtori CR, Calabresi L, Franceschini G, et al.: Cardiovascular status of carriers of the apolipoprotein A-I(Milano) mutant: the Limone sul Garda study. Circulation 2001, 103:1949-1954.
    • (2001) Circulation , vol.103 , pp. 1949-1954
    • Sirtori, C.R.1    Calabresi, L.2    Franceschini, G.3
  • 38
    • 0028985103 scopus 로고
    • Recombinant apolipoprotein A-IMilano dimer inhibits carotid intimal thickening induced by perivascular manipulation in rabbits
    • Soma MR, Donetti E, Parolini C, et al.: Recombinant apolipoprotein A-IMilano dimer inhibits carotid intimal thickening induced by perivascular manipulation in rabbits. Circ Res 1995, 76:405-411.
    • (1995) Circ Res , vol.76 , pp. 405-411
    • Soma, M.R.1    Donetti, E.2    Parolini, C.3
  • 39
    • 0032478183 scopus 로고    scopus 로고
    • Effects of recombinant apolipoprotein A-I(Milano) on aortic atherosclerosis in apolipoprotein E-deficient mice
    • Shah PK, Nilsson J, Kaul S, et al.: Effects of recombinant apolipoprotein A-I(Milano) on aortic atherosclerosis in apolipoprotein E-deficient mice. Circulation 1998, 97:780-785.
    • (1998) Circulation , vol.97 , pp. 780-785
    • Shah, P.K.1    Nilsson, J.2    Kaul, S.3
  • 40
    • 0037124010 scopus 로고    scopus 로고
    • Recombinant apolipoprotein A-I(Milano) infusion into rabbit carotid artery rapidly removes lipid from fatty streaks
    • Chiesa G, Monteggia E, Marchesi M, et al.: Recombinant apolipoprotein A-I(Milano) infusion into rabbit carotid artery rapidly removes lipid from fatty streaks. Circ Res 2002, 90:974-980.
    • (2002) Circ Res , vol.90 , pp. 974-980
    • Chiesa, G.1    Monteggia, E.2    Marchesi, M.3
  • 41
    • 0242577955 scopus 로고    scopus 로고
    • Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: A randomized controlled trial
    • Milano therapy provides added clinical benefit.
    • (2003) JAMA , vol.290 , pp. 2292-2300
    • Nissen, S.E.1    Tsunoda, T.2    Tuzcu, E.M.3
  • 42
    • 0037065730 scopus 로고    scopus 로고
    • Apolipoprotein A-I(Milano) and apolipoprotein A-I(Paris) exhibit an antioxidant activity distinct from that of wild-type apolipoprotein A-I
    • Mosc
    • Bielicki JK, Oda MN: Apolipoprotein A-I(Milano) and apolipoprotein A-I(Paris) exhibit an antioxidant activity distinct from that of wild-type apolipoprotein A-I. Biochemistry (Mosc) 2002, 41:2089-2096.
    • (2002) Biochemistry , vol.41 , pp. 2089-2096
    • Bielicki, J.K.1    Oda, M.N.2
  • 43
    • 0025322265 scopus 로고
    • Regression of atherosclerotic lesions by high density lipoprotein plasma fraction in the cholesterol-fed rabbit
    • Badimon JJ, Badimon L, Fuster V: Regression of atherosclerotic lesions by high density lipoprotein plasma fraction in the cholesterol-fed rabbit. J Clin Invest 1990, 85:1234-1241.
    • (1990) J Clin Invest , vol.85 , pp. 1234-1241
    • Badimon, J.J.1    Badimon, L.2    Fuster, V.3
  • 44
    • 0018212970 scopus 로고
    • Familial LCAT deficiency: Report of two patients from a Canadian family of Italian and Swedish descent
    • Frohlich J, Godolphin WJ, Reeve CE, et al.: Familial LCAT deficiency: report of two patients from a Canadian family of Italian and Swedish descent. Scand J Clin Lab Invest Suppl 1978, 150:156-161.
    • (1978) Scand J Clin Lab Invest Suppl , vol.150 , pp. 156-161
    • Frohlich, J.1    Godolphin, W.J.2    Reeve, C.E.3
  • 45
    • 0030933460 scopus 로고    scopus 로고
    • The molecular pathology of lecithin: Cholesterol acyltransferase (LCAT) deficiency syndromes
    • Kuivenhoven JA, Pritchard H, Hill J, et al.: The molecular pathology of lecithin: cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res 1997, 38:191-205.
    • (1997) J Lipid Res , vol.38 , pp. 191-205
    • Kuivenhoven, J.A.1    Pritchard, H.2    Hill, J.3
  • 46
    • 0035004674 scopus 로고    scopus 로고
    • A novel TC deletion resulting in Pro(260)→Stop in the human LCAT gene is associated with a dominant effect on HDL-cholesterol
    • Kasid A, Rhyne J, Zeller K, et al.: A novel TC deletion resulting in Pro(260)→Stop in the human LCAT gene is associated with a dominant effect on HDL-cholesterol. Atherosclerosis 2001, 156:127-132.
    • (2001) Atherosclerosis , vol.156 , pp. 127-132
    • Kasid, A.1    Rhyne, J.2    Zeller, K.3
  • 47
    • 0033027795 scopus 로고    scopus 로고
    • A first British case of fish-eye disease presenting at age 75 years: A double heterozygote for defined and new mutations affecting LCAT structure and expression
    • Winder AF, Owen JS, Pritchard PH, et al.: A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression. J Clin Pathol 1999, 52:228-230.
    • (1999) J Clin Pathol , vol.52 , pp. 228-230
    • Winder, A.F.1    Owen, J.S.2    Pritchard, P.H.3
  • 48
    • 0020462683 scopus 로고
    • Renal failure in familial lecithin: Cholesterol acyltransferase deficiency
    • Borysiewicz LK, Soutar AK, Evans DJ, et al.: Renal failure in familial lecithin: cholesterol acyltransferase deficiency. Q J Med 1982, 51:411-426.
    • (1982) Q J Med , vol.51 , pp. 411-426
    • Borysiewicz, L.K.1    Soutar, A.K.2    Evans, D.J.3
  • 49
    • 0015530365 scopus 로고
    • Inhibition of lipoprotein lipase by an apoprotein of human very low density lipoprotein
    • Brown WV, Baginsky ML: Inhibition of lipoprotein lipase by an apoprotein of human very low density lipoprotein. Biochem Biophys Res Commun 1972, 46:375-382.
    • (1972) Biochem Biophys Res Commun , vol.46 , pp. 375-382
    • Brown, W.V.1    Baginsky, M.L.2
  • 50
    • 0037109169 scopus 로고    scopus 로고
    • New perspectives on atherogenesis: Role of abnormal triglyceride-rich lipoprotein metabolism
    • Ginsberg HN: New perspectives on atherogenesis: role of abnormal triglyceride-rich lipoprotein metabolism. Circulation 2002, 106:2137-2142.
    • (2002) Circulation , vol.106 , pp. 2137-2142
    • Ginsberg, H.N.1
  • 51
    • 0028200055 scopus 로고
    • Triglyceride- and cholesterol-rich lipoproteins have a differential effect on mild/moderate and severe lesion progression as assessed by quantitative coronary angiography in a controlled trial of lovastatin
    • Hodis HN, Mack WJ, Azen SP, et al.: Triglyceride- and cholesterol-rich lipoproteins have a differential effect on mild/moderate and severe lesion progression as assessed by quantitative coronary angiography in a controlled trial of lovastatin. Circulation 1994, 90:42-49.
    • (1994) Circulation , vol.90 , pp. 42-49
    • Hodis, H.N.1    Mack, W.J.2    Azen, S.P.3
  • 52
    • 0031923075 scopus 로고    scopus 로고
    • Linkage of the apo CIII microsatellite with isolated low high-density lipoprotein cholesterol
    • Devlin CM, Prenger VL, Miller M: Linkage of the apo CIII microsatellite with isolated low high-density lipoprotein cholesterol. Hum Genet 1998, 102:273-281.
    • (1998) Hum Genet , vol.102 , pp. 273-281
    • Devlin, C.M.1    Prenger, V.L.2    Miller, M.3
  • 53
    • 0242690899 scopus 로고    scopus 로고
    • Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment
    • Gagnon F, Jarvik GP, Motulsky AG, et al.: Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment. Hum Genet 2003, 113:522-533.
    • (2003) Hum Genet , vol.113 , pp. 522-533
    • Gagnon, F.1    Jarvik, G.P.2    Motulsky, A.G.3
  • 54
    • 0035863672 scopus 로고    scopus 로고
    • Prevalence of the APOC3 promoter polymorphisms T-455C and C-482T in Asian-Indians
    • Miller M, Rhyne J, Khatta M, et al.: Prevalence of the APOC3 promoter polymorphisms T-455C and C-482T in Asian-Indians. Am J Cardiol 2001, 87: 220-221.
    • (2001) Am J Cardiol , vol.87 , pp. 220-221
    • Miller, M.1    Rhyne, J.2    Khatta, M.3
  • 55
    • 0026581783 scopus 로고
    • Lipoprotein lipase and hepatic triglyceride lipase: Molecular and genetic aspects
    • Lalouel J, Wilson DE, Iverius PH: Lipoprotein lipase and hepatic triglyceride lipase: molecular and genetic aspects. Curr Opin Lipidol 1992, 3:86-95.
    • (1992) Curr Opin Lipidol , vol.3 , pp. 86-95
    • Lalouel, J.1    Wilson, D.E.2    Iverius, P.H.3
  • 56
    • 0036906508 scopus 로고    scopus 로고
    • Lipoprotein lipase: Genetics, lipid uptake, and regulation
    • Merkel M, Eckel RH, Goldberg IJ: Lipoprotein lipase: genetics, lipid uptake, and regulation. J Lipid Res 2002, 43:1997-2006.
    • (2002) J Lipid Res , vol.43 , pp. 1997-2006
    • Merkel, M.1    Eckel, R.H.2    Goldberg, I.J.3
  • 57
    • 0029047717 scopus 로고
    • A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis
    • Reymer PW, Gagne E, Groenemeyer BE, et al.: A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat Genet 1995, 10:28-34.
    • (1995) Nat Genet , vol.10 , pp. 28-34
    • Reymer, P.W.1    Gagne, E.2    Groenemeyer, B.E.3
  • 58
    • 0033016308 scopus 로고    scopus 로고
    • Lipoprotein lipase gene mutations, plasma lipid levels, progression/regression of coronary atherosclerosis, response to therapy, and future clinical events: Lipoproteins and Coronary Atherosclerosis Study
    • Sing K, Ballantyne CM, Ferlic L. et al.: Lipoprotein lipase gene mutations, plasma lipid levels, progression/regression of coronary atherosclerosis, response to therapy, and future clinical events: Lipoproteins and Coronary Atherosclerosis Study. Atherosclerosis 1999, 144:435-442.
    • (1999) Atherosclerosis , vol.144 , pp. 435-442
    • Sing, K.1    Ballantyne, C.M.2    Ferlic, L.3
  • 59
    • 0025368184 scopus 로고
    • Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis
    • Viana MB, Giugliani R, Leite VH, et al.: Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. J Med Genet 1990, 27:499-504.
    • (1990) J Med Genet , vol.27 , pp. 499-504
    • Viana, M.B.1    Giugliani, R.2    Leite, V.H.3
  • 60
    • 0030039634 scopus 로고    scopus 로고
    • The influence of sphingomyelin on the structure and function of reconstituted high density lipoproteins
    • Rye KA, Hime NJ, Barter PJ: The influence of sphingomyelin on the structure and function of reconstituted high density lipoproteins. J Biol Chem 1996, 271:4243-4250.
    • (1996) J Biol Chem , vol.271 , pp. 4243-4250
    • Rye, K.A.1    Hime, N.J.2    Barter, P.J.3
  • 61
    • 0041825673 scopus 로고    scopus 로고
    • Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease
    • Choi HY, Karten B, Chan T, et al.: Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. J Biol Chem 2003, 278:32569-32577. Interesting study evaluating the mechanism underlying low HDL in subjects with Niemann-Pick disease. The authors believe that the cholesterol trafficking defect in NPC disease causes reduced ABCA1 activity and likely accounts for the low HDL-C phenotype typically observed in this disorder.
    • (2003) J Biol Chem , vol.278 , pp. 32569-32577
    • Choi, H.Y.1    Karten, B.2    Chan, T.3
  • 62
    • 0038620213 scopus 로고    scopus 로고
    • Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol
    • Lee CY, Krimbou L, Vincent J, et al.: Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol. Hum Genet 2003, 112:552-562.
    • (2003) Hum Genet , vol.112 , pp. 552-562
    • Lee, C.Y.1    Krimbou, L.2    Vincent, J.3
  • 63
    • 0021183291 scopus 로고
    • Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type disease
    • Ginsberg H, Grabowski GA, Gibson JC, et al.: Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type disease. Clin Genet 1984, 26:109-116.
    • (1984) Clin Genet , vol.26 , pp. 109-116
    • Ginsberg, H.1    Grabowski, G.A.2    Gibson, J.C.3
  • 64
    • 0032572381 scopus 로고    scopus 로고
    • Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia
    • Pocovi M, Cenarro A, Civeira F, et al.: Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia. Lancet 1998, 351:1919-1923.
    • (1998) Lancet , vol.351 , pp. 1919-1923
    • Pocovi, M.1    Cenarro, A.2    Civeira, F.3
  • 65
    • 0036015983 scopus 로고    scopus 로고
    • Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia
    • Recalde D, Cenarro A, Garcia-Otin AL, et al.: Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia. Atherosclerosis 2002, 163:49-58.
    • (2002) Atherosclerosis , vol.163 , pp. 49-58
    • Recalde, D.1    Cenarro, A.2    Garcia-Otin, A.L.3


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