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Volumn 96, Issue 6, 1997, Pages 1737-1744

Heterozygous lipoprotein lipase deficiency: Frequency in the general population, effect on plasma lipid levels, and risk of ischemic heart disease

Author keywords

Atherosclerosis; Coronary disease; Genes; Lipoproteins

Indexed keywords

HIGH DENSITY LIPOPROTEIN; LIPOPROTEIN LIPASE;

EID: 0030848547     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.96.6.1737     Document Type: Article
Times cited : (118)

References (43)
  • 1
    • 0001033625 scopus 로고
    • Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
    • Scriver C, Beaudet A, Sly W, Valle D, eds. New York, NY: McGraw-Hill Inc
    • Brunzell J. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill Inc; 1995:1913-1932.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 1913-1932
    • Brunzell, J.1
  • 2
    • 0029808302 scopus 로고    scopus 로고
    • Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
    • Benlian P, De Gennes JL, Foubert L, Zhang H, Gagné SE, Hayden M. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med. 1996;335:848-854.
    • (1996) N Engl J Med , vol.335 , pp. 848-854
    • Benlian, P.1    De Gennes, J.L.2    Foubert, L.3    Zhang, H.4    Gagné, S.E.5    Hayden, M.6
  • 6
    • 0025962224 scopus 로고
    • Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome
    • Dichek HL, Fojo SS, Beg OU, Skarlatos SI, Brunzell JD, Cutler GB Jr, Brewer HB Jr. Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome. J Biol Chem. 1991;266:473-477.
    • (1991) J Biol Chem , vol.266 , pp. 473-477
    • Dichek, H.L.1    Fojo, S.S.2    Beg, O.U.3    Skarlatos, S.I.4    Brunzell, J.D.5    Cutler G.B., Jr.6    Brewer H.B., Jr.7
  • 7
    • 0024383955 scopus 로고
    • Detection and characterization of the heterozygote state for lipoprotein lipase deficiency
    • Babirak SP, Iverius P-H, Fujimoto WY, Brunzell JD. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis. 1989;9:326-334.
    • (1989) Arteriosclerosis , vol.9 , pp. 326-334
    • Babirak, S.P.1    Iverius, P.-H.2    Fujimoto, W.Y.3    Brunzell, J.D.4
  • 8
    • 0025167797 scopus 로고
    • Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation
    • Wilson DE, Emi M, Iverius P-H, Hata A, Wu LL, Hillas E, Williams RR, Lalouel J-M. Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J Clin Invest. 1990;86-735-750.
    • (1990) J Clin Invest , vol.86 , pp. 735-750
    • Wilson, D.E.1    Emi, M.2    Iverius, P.-H.3    Hata, A.4    Wu, L.L.5    Hillas, E.6    Williams, R.R.7    Lalouel, J.-M.8
  • 10
    • 0024572531 scopus 로고
    • The Copenhagen City Heart Study. Østerbroundersøgelsen: A book of tables with data from the first examination (1976-78) and a five year follow-up (1981-83)
    • Appleyard M, Hansen AT, Schnohr P, Jensen G, Nyboe J. The Copenhagen City Heart Study. Østerbroundersøgelsen: a book of tables with data from the first examination (1976-78) and a five year follow-up (1981-83). Scand J Soc Med. 1989;170(suppl 41):1-160.
    • (1989) Scand J Soc Med , vol.170 , Issue.41 SUPPL. , pp. 1-160
    • Appleyard, M.1    Hansen, A.T.2    Schnohr, P.3    Jensen, G.4    Nyboe, J.5
  • 12
    • 0025257612 scopus 로고
    • Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal
    • Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal. J Lipid Res. 1990;31:545-548.
    • (1990) J Lipid Res , vol.31 , pp. 545-548
    • Hixson, J.E.1    Vernier, D.T.2
  • 13
    • 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. Atherosclerosis. 1992; 96:91-107.
    • (1992) Atherosclerosis , vol.96 , pp. 91-107
    • Tybjaerg-Hansen, A.1    Humphries, S.E.2
  • 14
    • 0011707884 scopus 로고
    • Statistical computation
    • Armitage P, Berry G, eds. Oxford, UK: Blackwell Scientific Publications
    • Armitage P, Berry G. Statistical computation. In: Armitage P, Berry G, eds. Statistical Methods in Medical Research. Oxford, UK: Blackwell Scientific Publications; 1987:506-509.
    • (1987) Statistical Methods in Medical Research , pp. 506-509
    • Armitage, P.1    Berry, G.2
  • 16
    • 0027535752 scopus 로고
    • Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities
    • Miesenbock G, Holzl B, Föger B, Brandstätter E, Paulweber B, Sandhofer F, Patsch JR. Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities. J Clin Invest. 1993;91:448-455.
    • (1993) J Clin Invest , vol.91 , pp. 448-455
    • Miesenbock, G.1    Holzl, B.2    Föger, B.3    Brandstätter, E.4    Paulweber, B.5    Sandhofer, F.6    Patsch, J.R.7
  • 19
    • 0028556785 scopus 로고
    • Lipoprotein lipase deficiency due to a 3′ splice site mutation in intron 6 of the lipoprotein lipase gene
    • Hölzl B, Huber R, Paulweber B, Patsch JR, Sandhofer F. Lipoprotein lipase deficiency due to a 3′ splice site mutation in intron 6 of the lipoprotein lipase gene. J Lipid Res. 1994;35: 2161-2169.
    • (1994) J Lipid Res , vol.35 , pp. 2161-2169
    • Hölzl, B.1    Huber, R.2    Paulweber, B.3    Patsch, J.R.4    Sandhofer, F.5
  • 24
    • 0030464749 scopus 로고    scopus 로고
    • Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes: A preliminary report
    • Sprecher DL, Harris BV, Stein EA, Bellet PS, Keilson LM, Simbartl LA. Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes: a preliminary report. Circulation. 1996;94: 3239-3245.
    • (1996) Circulation , vol.94 , pp. 3239-3245
    • Sprecher, D.L.1    Harris, B.V.2    Stein, E.A.3    Bellet, P.S.4    Keilson, L.M.5    Simbartl, L.A.6
  • 25
  • 26
    • 0026065576 scopus 로고
    • Plasma triglyceride and coronary heart disease
    • Austin MA. Plasma triglyceride and coronary heart disease. Arterioscler Thromb. 1991;11:2-14.
    • (1991) Arterioscler Thromb , vol.11 , pp. 2-14
    • Austin, M.A.1
  • 28
    • 0001941948 scopus 로고
    • Fundamental epidemiologic concepts and approaches
    • Khoury MJ, Beaty TH, Cohen BH, eds. New York, NY: Oxford University Press Inc
    • Khoury MJ, Beaty TH, Cohen BH. Fundamental epidemiologic concepts and approaches. In: Khoury MJ, Beaty TH, Cohen BH, eds. Fundamentals of Genetic Epidemiology. New York, NY: Oxford University Press Inc; 1993:55-81.
    • (1993) Fundamentals of Genetic Epidemiology , pp. 55-81
    • Khoury, M.J.1    Beaty, T.H.2    Cohen, B.H.3
  • 29
    • 0028903142 scopus 로고
    • Selective retention of VLDL, IDL, and LDL in the arterial intima of genetically hyperlipidemic rabbits in vivo: Molecular size as a determinant of fractional loss from the intima-inner media
    • Nordestgaard BG, Wootton R, Lewis B. Selective retention of VLDL, IDL, and LDL in the arterial intima of genetically hyperlipidemic rabbits in vivo: molecular size as a determinant of fractional loss from the intima-inner media. Anerioscler Thromb Vasc Biol. 1995;15:534-542.
    • (1995) Anerioscler Thromb Vasc Biol , vol.15 , pp. 534-542
    • Nordestgaard, B.G.1    Wootton, R.2    Lewis, B.3
  • 30
    • 0019966307 scopus 로고
    • Hypertriglyceridemic very low density lipoproteins induce triglyceride synthesis and accumulation in mouse peritoneal macrophages
    • Gianturco SH, Bradley WA, Gotto AM Jr, Morrisett JD, Peavy DL. Hypertriglyceridemic very low density lipoproteins induce triglyceride synthesis and accumulation in mouse peritoneal macrophages. J Clin Invest. 1982;70:168-178.
    • (1982) J Clin Invest , vol.70 , pp. 168-178
    • Gianturco, S.H.1    Bradley, W.A.2    Gotto A.M., Jr.3    Morrisett, J.D.4    Peavy, D.L.5
  • 32
    • 0024216203 scopus 로고
    • Large lipoproteins are excluded from the arterial wall in diabetic cholesterol-fed rabbits
    • Nordestgaard BG, Zilversmit DB. Large lipoproteins are excluded from the arterial wall in diabetic cholesterol-fed rabbits. J Lipid Res. 1988;29:1491-1500.
    • (1988) J Lipid Res , vol.29 , pp. 1491-1500
    • Nordestgaard, B.G.1    Zilversmit, D.B.2
  • 33
    • 0028887870 scopus 로고
    • Molecular physiology of reverse cholesterol transport
    • Fielding CJ, Fielding PE. Molecular physiology of reverse cholesterol transport. J Lipid Res. 1995;36:211-228.
    • (1995) J Lipid Res , vol.36 , pp. 211-228
    • Fielding, C.J.1    Fielding, P.E.2
  • 36
    • 0028230993 scopus 로고
    • High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: Possible association with apolipoprotein E2 isoform
    • Ma Y, Ooi TC, Liu M-S, Zhang H, McPherson R, Edwards AL, Forsythe IJ, Frohlich J, Brunzell JD, Hayden MR. High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform. J Lipid Res. 1994;35:1066-1075.
    • (1994) J Lipid Res , vol.35 , pp. 1066-1075
    • Ma, Y.1    Ooi, T.C.2    Liu, M.-S.3    Zhang, H.4    McPherson, R.5    Edwards, A.L.6    Forsythe, I.J.7    Frohlich, J.8    Brunzell, J.D.9    Hayden, M.R.10
  • 37
    • 0028853880 scopus 로고
    • Interaction of the lipoprotein lipase asparagine 291→serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: A study in hyperlipidemic subjects, myocardial infarction survivors, and healthy adults
    • Fisher RM, Mailly F, Peacock RE, Hamsten A, Seed M, Yudkin JS, Beisiegel U, Feussner G, Miller G, Humphries SE, Talmud PJ. Interaction of the lipoprotein lipase asparagine 291→serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: a study in hyperlipidemic subjects, myocardial infarction survivors, and healthy adults. J Lipid Res. 1995; 36:2104-2112.
    • (1995) J Lipid Res , vol.36 , pp. 2104-2112
    • Fisher, R.M.1    Mailly, F.2    Peacock, R.E.3    Hamsten, A.4    Seed, M.5    Yudkin, J.S.6    Beisiegel, U.7    Feussner, G.8    Miller, G.9    Humphries, S.E.10    Talmud, P.J.11
  • 43
    • 0029045344 scopus 로고
    • A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity
    • Yang WS, Nevin DN, Peng R, Brunzell JD, Deeb SS. A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc Natl Acad Sci U S A. 1995;92:4462-4466.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 4462-4466
    • Yang, W.S.1    Nevin, D.N.2    Peng, R.3    Brunzell, J.D.4    Deeb, S.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.