메뉴 건너뛰기




Volumn 19, Issue 11, 1999, Pages 2730-2736

Linkage of a candidate gene locus to familial combined hyperlipidemia - Lecithin: Cholesterol acyltransferase on 16q

Author keywords

Familial combined hyperlipidemia; Genetics; Lecithin:cholesterol acyltransferase; Lipid metabolism

Indexed keywords

CHOLESTEROL; MANGANESE SUPEROXIDE DISMUTASE; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; TRIACYLGLYCEROL;

EID: 0032698344     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.19.11.2730     Document Type: Article
Times cited : (46)

References (49)
  • 1
    • 0015796295 scopus 로고
    • Hyperlipidemia in coronary artery disease, II: Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia
    • Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG. Hyperlipidemia in coronary artery disease, II: genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest. 1973;52:1544-1568.
    • (1973) J Clin Invest , vol.52 , pp. 1544-1568
    • Goldstein, J.L.1    Schrott, H.G.2    Hazzard, W.R.3    Bierman, E.L.4    Motulsky, A.G.5
  • 2
    • 0015579930 scopus 로고
    • Inheritance of combined hyperlipoproteinemia: Evidence for a new lipoprotein phenotype
    • Rose HG, Kranz P, Weinstock M, Juliano J, Haft JI. Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype. Am J Med. 1973;54:148-160.
    • (1973) Am J Med , vol.54 , pp. 148-160
    • Rose, H.G.1    Kranz, P.2    Weinstock, M.3    Juliano, J.4    Haft, J.I.5
  • 3
    • 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. 1983;24:147-155.
    • (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
  • 4
    • 0026731011 scopus 로고
    • Familial combined hyperlipidemia and abnormal lipoprotein lipase
    • Babirak SP, Brown G, Brunzell JD. Familial combined hyperlipidemia and abnormal lipoprotein lipase. Arterioscler Thromb. 1992;12: 1176-1183.
    • (1992) Arterioscler Thromb , vol.12 , pp. 1176-1183
    • Babirak, S.P.1    Brown, G.2    Brunzell, J.D.3
  • 6
    • 0027415567 scopus 로고
    • Genetic and molecular biology of familial combined hyperlipidemia
    • Kwiterovich PO. Genetic and molecular biology of familial combined hyperlipidemia. Curr Opin Lipidol. 1993;4:133-143.
    • (1993) Curr Opin Lipidol , vol.4 , pp. 133-143
    • Kwiterovich, P.O.1
  • 7
    • 0344856567 scopus 로고    scopus 로고
    • Lipid metabolism
    • Rimoin DL, Conner JM, Pyeriz RE, eds. New York: Churchill Livingston
    • Lusis AJ, Ivandic B. Lipid metabolism. In: Rimoin DL, Conner JM, Pyeriz RE, eds. Principles and Practice of Medical Genetics. New York: Churchill Livingston; 1997:1945-1976.
    • (1997) Principles and Practice of Medical Genetics , pp. 1945-1976
    • Lusis, A.J.1    Ivandic, B.2
  • 8
    • 0015914934 scopus 로고
    • Family study of serum lipids and lipoproteins in coronary heart disease
    • Nikkila EA, Aro A. Family study of serum lipids and lipoproteins in coronary heart disease. Lancet. 1973; 1:954-959.
    • (1973) Lancet , vol.1 , pp. 954-959
    • Nikkila, E.A.1    Aro, A.2
  • 9
    • 0015841574 scopus 로고
    • Familial combined hyperlipoproteinemia: Studies in 91 adults and 95 children from 33 kindred
    • Glueck CJ, Fallal R, Buncher CR, Tsang R, Steiner P. Familial combined hyperlipoproteinemia: studies in 91 adults and 95 children from 33 kindred. Metabolism. 1973;23:1403-1428.
    • (1973) Metabolism , vol.23 , pp. 1403-1428
    • Glueck, C.J.1    Fallal, R.2    Buncher, C.R.3    Tsang, R.4    Steiner, P.5
  • 10
    • 0020051829 scopus 로고
    • Complex segregation analysis of hyperlipidemia in a Seattle sample
    • Williams WR, Lalouel JM. Complex segregation analysis of hyperlipidemia in a Seattle sample. Hum Hered. 1982;32:24-26.
    • (1982) Hum Hered , vol.32 , pp. 24-26
    • Williams, W.R.1    Lalouel, J.M.2
  • 11
    • 0027991557 scopus 로고
    • Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia
    • Cullen P, Farren B, Scott J, Farrall M. Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia. Arterioscler Thromb. 1994;14:1233-1249.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1233-1249
    • Cullen, P.1    Farren, B.2    Scott, J.3    Farrall, M.4
  • 12
    • 0028172750 scopus 로고
    • Genetic predictors of FCHL in four large pedigrees: Influence of apoB level major locus predicted genotype and LDL subclass phenotype
    • Jarvik GP, Brunzell JD, Austin MA, Krauss RM, Motulsky AG, Wijsman E. Genetic predictors of FCHL in four large pedigrees: influence of apoB level major locus predicted genotype and LDL subclass phenotype. Arterioscler Thromb. 1994;14:1687-1694.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1687-1694
    • Jarvik, G.P.1    Brunzell, J.D.2    Austin, M.A.3    Krauss, R.M.4    Motulsky, A.G.5    Wijsman, E.6
  • 14
    • 0029918965 scopus 로고    scopus 로고
    • Inherited susceptibility determines the distribution of dense lowdensity lipoprotein subfraction profiles in familial combined hyperlipidemia
    • Bredie SJH, Kiemeney LA, de Haan AFJ, Demacker PMN, Stalenhoef AFH. Inherited susceptibility determines the distribution of dense lowdensity lipoprotein subfraction profiles in familial combined hyperlipidemia. Am J Hum Genet. 1996;58:812-822.
    • (1996) Am J Hum Genet , vol.58 , pp. 812-822
    • Bredie, S.J.H.1    Kiemeney, L.A.2    De Haan, A.F.J.3    Demacker, P.M.N.4    Stalenhoef, A.F.H.5
  • 17
    • 0027171902 scopus 로고
    • Impaired fatty acid metabolism in familial combined hyperlipidemia: A mechanism associating hepatic apolipoprotein B overproduction and insulin resistance
    • Castro Cabezas M, de Bruin TWA, de Valk HW, Shoulders CC, Jansen H, Erkelens DW. Impaired fatty acid metabolism in familial combined hyperlipidemia: a mechanism associating hepatic apolipoprotein B overproduction and insulin resistance. J Clin Invest. 1993;92:160-168.
    • (1993) J Clin Invest , vol.92 , pp. 160-168
    • Castro Cabezas, M.1    De Bruin, T.W.A.2    De Valk, H.W.3    Shoulders, C.C.4    Jansen, H.5    Erkelens, D.W.6
  • 19
    • 0018843763 scopus 로고
    • Very low density lipoprotein overproduction in genetic forms of hypertriglyceridemia
    • Chait A, Albers JJ, Brunzell JD. Very low density lipoprotein overproduction in genetic forms of hypertriglyceridemia. Eur J Clin Invest. 1980;110:12-22.
    • (1980) Eur J Clin Invest , vol.110 , pp. 12-22
    • Chait, A.1    Albers, J.J.2    Brunzell, J.D.3
  • 20
    • 0018886617 scopus 로고
    • Kinetic bases of the primary hyperlipidemias: Studies of apolipoprotein B turnover in genetically defined subjects
    • Janus ED, Nicoll AM, Turner PR, Magill P, Lewis B. Kinetic bases of the primary hyperlipidemias: studies of apolipoprotein B turnover in genetically defined subjects. Eur J Clin Invest. 1980;10:161-172.
    • (1980) Eur J Clin Invest , vol.10 , pp. 161-172
    • Janus, E.D.1    Nicoll, A.M.2    Turner, P.R.3    Magill, P.4    Lewis, B.5
  • 21
    • 0019506499 scopus 로고
    • Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein B kinetics in man: Normolipidemic subjects, familial hypertriglyceridemia and familial combined hyperlipidemia
    • Kissebah AH, Alfarsi S, Adams PW. Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein B kinetics in man: normolipidemic subjects, familial hypertriglyceridemia and familial combined hyperlipidemia. Metabolism. 1981;30:856-868.
    • (1981) Metabolism , vol.30 , pp. 856-868
    • Kissebah, A.H.1    Alfarsi, S.2    Adams, P.W.3
  • 22
    • 0025999972 scopus 로고
    • Familial combined hyperlipidemia: Use of stable isotopes to demonstrate overproduction of very low density apolipoprotein B by the liver
    • Conner TA, Coates PM, Bennett MJ, Cryer DR, Le N-A. Familial combined hyperlipidemia: use of stable isotopes to demonstrate overproduction of very low density apolipoprotein B by the liver. J Inherit Metab Dis. 1991;14:915-922.
    • (1991) J Inherit Metab Dis , vol.14 , pp. 915-922
    • Conner, T.A.1    Coates, P.M.2    Bennett, M.J.3    Cryer, D.R.4    Le, N.-A.5
  • 23
    • 0027322479 scopus 로고
    • Stable isotopes show a direct relation between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia
    • Venkatesan S, Cullen P, Pacy P, Halliday D, Scott J. Stable isotopes show a direct relation between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia. Arterioscler Thromb. 1993;13:1110-1118.
    • (1993) Arterioscler Thromb , vol.13 , pp. 1110-1118
    • Venkatesan, S.1    Cullen, P.2    Pacy, P.3    Halliday, D.4    Scott, J.5
  • 24
    • 0028179511 scopus 로고
    • The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity
    • Nevin DN, Brunzell JD, Deeb SS. The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity. Arterioscler Thromb. 1994;14:869-873.
    • (1994) Arterioscler Thromb , vol.14 , pp. 869-873
    • Nevin, D.N.1    Brunzell, J.D.2    Deeb, S.S.3
  • 25
    • 0028167760 scopus 로고
    • Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia
    • Gagne E, Genest J, Zang H, Clarke LA, Hayden MR. Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler Thromb. 1994;14:1250-1257.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1250-1257
    • Gagne, E.1    Genest, J.2    Zang, H.3    Clarke, L.A.4    Hayden, M.R.5
  • 27
    • 0029838836 scopus 로고    scopus 로고
    • Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity
    • Deeb SS, Nevin DN, Iwasaki L, Brunzell JD. Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity. Hwn Mutat. 1996;8:319-325.
    • (1996) Hwn Mutat , vol.8 , pp. 319-325
    • Deeb, S.S.1    Nevin, D.N.2    Iwasaki, L.3    Brunzell, J.D.4
  • 28
    • 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 USA. 1995;92:4462-4466.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 4462-4466
    • Yang, W.S.1    Nevin, D.N.2    Peng, R.3    Brunzell, J.D.4    Deeb, S.S.5
  • 33
    • 0030069735 scopus 로고    scopus 로고
    • Apolipoprotein AI-CIII-AIV gene cluster in familial combined hyperlipidemia: Effects on LDL-cholesterol and apolipoproteins B and C-III
    • Dallinga-Thie GM, Bu XD, van Linde-Sibenius Trip M, Rotter JI, Lusis AJ, de Bruin TWA. Apolipoprotein AI-CIII-AIV gene cluster in familial combined hyperlipidemia: effects on LDL-cholesterol and apolipoproteins B and C-III. J Lipid Res. 1996;37:136-147.
    • (1996) J Lipid Res , vol.37 , pp. 136-147
    • Dallinga-Thie, G.M.1    Bu, X.D.2    Van Linde-Sibenius Trip, M.3    Rotter, J.I.4    Lusis, A.J.5    De Bruin, T.W.A.6
  • 36
    • 0026752381 scopus 로고
    • Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels
    • Coresh J, Beaty TH, Kwiterovich PO Jr, Antonarakis SE. Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels. Am J Hum Genet. 1992;50:1038-1045.
    • (1992) Am J Hum Genet , vol.50 , pp. 1038-1045
    • Coresh, J.1    Beaty, T.H.2    Kwiterovich Jr., P.O.3    Antonarakis, S.E.4
  • 38
    • 0002625306 scopus 로고    scopus 로고
    • A familial combined hyperlipidemic kindred with impaired apolipoprotein B catabolism: Kinetics of apolipoprotein B during placebo and pravastatin therapy
    • Aguilar-Salinas CA, Hugh P, Barret R, Pulai J, Zhu XL, Schonfeld G. A familial combined hyperlipidemic kindred with impaired apolipoprotein B catabolism: kinetics of apolipoprotein B during placebo and pravastatin therapy. Arterioscler Thromb Vasc Biol. 1997;17:72-82.
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 72-82
    • Aguilar-Salinas, C.A.1    Hugh, P.2    Barret, R.3    Pulai, J.4    Zhu, X.L.5    Schonfeld, G.6
  • 39
    • 0025714336 scopus 로고
    • Tetranucleotide repeat polymorphism in the apolipoprotein CIII gene
    • Zuliani G, Hobbs HH. Tetranucleotide repeat polymorphism in the apolipoprotein CIII gene. Nucleic Acids Res. 1990;18:4299.
    • (1990) Nucleic Acids Res , vol.18 , pp. 4299
    • Zuliani, G.1    Hobbs, H.H.2
  • 40
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using polymerase chain reaction
    • Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using polymerase chain reaction. Am J Hum Genet. 1989;44:388-96.
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 41
    • 85034493756 scopus 로고    scopus 로고
    • Accessed November 1998
    • Cooperative Human Linkage Center. Available at: http://www.chlc.org. Accessed November 1998.
  • 42
    • 85034490496 scopus 로고    scopus 로고
    • Accessed November 1998
    • Whitehead Institute for Biomedical Research. Available at: http://www.genome.wi.mit.edu. Accessed November 1998.
  • 44
    • 0025292831 scopus 로고
    • Dinucleotide repeat polymorphism at the 3′ end of the LDL receptor gene
    • Zuliani G, Hobbs HH. Dinucleotide repeat polymorphism at the 3′ end of the LDL receptor gene. Nucleic Acids Res. 1990;18:4300.
    • (1990) Nucleic Acids Res , vol.18 , pp. 4300
    • Zuliani, G.1    Hobbs, H.H.2
  • 45
    • 0011156618 scopus 로고    scopus 로고
    • Accessed November
    • The Genome Database. Available at: http://gdbwww.gdb.org. Accessed November 1998.
    • (1998) The Genome Database
  • 46
    • 0028022939 scopus 로고
    • Human microsomal triglyceride transfer protein large subunit gene structure
    • Sharp D, Ricci B, Kienzle B, Lin MC, Wetterau JR. Human microsomal triglyceride transfer protein large subunit gene structure. Biochemistry. 1994;33:9057-9061.
    • (1994) Biochemistry , vol.33 , pp. 9057-9061
    • Sharp, D.1    Ricci, B.2    Kienzle, B.3    Lin, M.C.4    Wetterau, J.R.5
  • 47
    • 23444462256 scopus 로고
    • CGG triple repeat polymorphism in the VLDL receptor (VLDLR) gene
    • Jokinen E, Sakai J, Yamamoto T, Hobbs HH. CGG triple repeat polymorphism in the VLDL receptor (VLDLR) gene. Hum Mol Genet. 1994;3:521.
    • (1994) Hum Mol Genet , vol.3 , pp. 521
    • Jokinen, E.1    Sakai, J.2    Yamamoto, T.3    Hobbs, H.H.4
  • 49
    • 0026542767 scopus 로고
    • An amino acid exchange in exon I of the human lecithin:cholesterol acyltransferase (LCAT) gene is associated with fish eye disease
    • Skretting G, Prydz H. An amino acid exchange in exon I of the human lecithin:cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. Biochem Biophys Res Commun. 1992;182:583-587.
    • (1992) Biochem Biophys Res Commun , vol.182 , pp. 583-587
    • Skretting, G.1    Prydz, H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.