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Volumn 7, Issue 8, 2012, Pages

Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARAGINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; SERINE; TRYPTOPHAN;

EID: 84865406477     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0037437     Document Type: Article
Times cited : (29)

References (48)
  • 2
    • 62549162170 scopus 로고    scopus 로고
    • Genomics and cardiovascular drug development
    • Plump AS, Lum PY, (2009) Genomics and cardiovascular drug development. J Am Coll Cardiol 53: 1089-1100.
    • (2009) J Am Coll Cardiol , vol.53 , pp. 1089-1100
    • Plump, A.S.1    Lum, P.Y.2
  • 3
    • 0017384270 scopus 로고
    • High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study
    • Gordon T, Castelli WP, Hjortland MC, Kannel WB, Dawber TR, (1977) High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study. Am J Med 62: 707-714.
    • (1977) Am J Med , vol.62 , pp. 707-714
    • Gordon, T.1    Castelli, W.P.2    Hjortland, M.C.3    Kannel, W.B.4    Dawber, T.R.5
  • 4
    • 79952068598 scopus 로고    scopus 로고
    • Association of high-density lipoprotein cholesterol with coronary heart disease risk across categories of low-density lipoprotein cholesterol: The Atherosclerosis Risk in Communities Study
    • Muntner P. Lee F, Astor BC, (2010) Association of high-density lipoprotein cholesterol with coronary heart disease risk across categories of low-density lipoprotein cholesterol: The Atherosclerosis Risk in Communities Study. Am J Med Sci 341: 173-180.
    • (2010) Am J Med Sci , vol.341 , pp. 173-180
    • Muntner, P.1    Lee, F.2    Astor, B.C.3
  • 6
    • 36049023700 scopus 로고    scopus 로고
    • New insights into the role of HDL as an anti-inflammatory agent in the prevention of cardiovascular disease
    • Barter PJ, Puranik R, Rye KA, (2007) New insights into the role of HDL as an anti-inflammatory agent in the prevention of cardiovascular disease. Curr Cardiol Rep 9: 493-498.
    • (2007) Curr Cardiol Rep , vol.9 , pp. 493-498
    • Barter, P.J.1    Puranik, R.2    Rye, K.A.3
  • 7
  • 9
    • 78549235583 scopus 로고    scopus 로고
    • Safety of Anacetrapib in patients with or at high risk for coronary artery disease
    • Cannon CP, Shah S, Dansky HM, Davidson M, Brinton EA, et al. (2010) Safety of Anacetrapib in patients with or at high risk for coronary artery disease. N Engl J Med 363: 2406-2415.
    • (2010) N Engl J Med , vol.363 , pp. 2406-2415
    • Cannon, C.P.1    Shah, S.2    Dansky, H.M.3    Davidson, M.4    Brinton, E.A.5
  • 10
    • 79953732508 scopus 로고    scopus 로고
    • Functional validation of new pathways in lipoprotein metabolism identified by human genetics
    • Bauer RC, Stylianou IO, Rader DJ, (2011) Functional validation of new pathways in lipoprotein metabolism identified by human genetics. Curr Opin Lipidol 22: 123-128.
    • (2011) Curr Opin Lipidol , vol.22 , pp. 123-128
    • Bauer, R.C.1    Stylianou, I.O.2    Rader, D.J.3
  • 11
    • 0025104275 scopus 로고
    • Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation
    • Inazu A, Brown ML, Hesler CB, Agellon LB, Koizumi J, et al. (1990) Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. N Engl J Med 323: 1234-1238.
    • (1990) N Engl J Med , vol.323 , pp. 1234-1238
    • Inazu, A.1    Brown, M.L.2    Hesler, C.B.3    Agellon, L.B.4    Koizumi, J.5
  • 12
    • 0025819206 scopus 로고
    • A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity
    • Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJ, et al. (1991) A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity. Proc Natl Acad Sci 88: 4855-4859.
    • (1991) Proc Natl Acad Sci , vol.88 , pp. 4855-4859
    • Funke, H.1    von Eckardstein, A.2    Pritchard, P.H.3    Albers, J.J.4    Kastelein, J.J.5
  • 13
    • 0029047717 scopus 로고
    • A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis
    • Reymer PW, Gagné E, Groenemeyer BE, Zhang H, Forsyth I, et al. (1995) A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat Genet 10: 28-34.
    • (1995) Nat Genet , vol.10 , pp. 28-34
    • Reymer, P.W.1    Gagné, E.2    Groenemeyer, B.E.3    Zhang, H.4    Forsyth, I.5
  • 14
    • 0032813808 scopus 로고    scopus 로고
    • Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
    • Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, et al. (1999) Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 22: 336-345.
    • (1999) Nat Genet , vol.22 , pp. 336-345
    • Brooks-Wilson, A.1    Marcil, M.2    Clee, S.M.3    Zhang, L.H.4    Roomp, K.5
  • 15
    • 0033692757 scopus 로고    scopus 로고
    • Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes
    • Clee SM, Kastelein JJP, van Dam M, Marcil M, Roomp K, et al. (2000) Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest 106: 1263-1270.
    • (2000) J Clin Invest , vol.106 , pp. 1263-1270
    • Clee, S.M.1    Kastelein, J.J.P.2    van Dam, M.3    Marcil, M.4    Roomp, K.5
  • 17
    • 65249186429 scopus 로고    scopus 로고
    • Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans
    • Edmondson AC, Brown RJ, Kathiresan S, Cupples LA, Demissie S, et al. (2009) Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. J Clin Invest 119: 1042-1050.
    • (2009) J Clin Invest , vol.119 , pp. 1042-1050
    • Edmondson, A.C.1    Brown, R.J.2    Kathiresan, S.3    Cupples, L.A.4    Demissie, S.5
  • 18
    • 34250195008 scopus 로고    scopus 로고
    • Genetic determinants of HDL: Monogenic disorders and contributions to variation
    • Klos KLE, Kullo IJ, (2007) Genetic determinants of HDL: Monogenic disorders and contributions to variation. Curr Opin Cardiol 23: 344-351.
    • (2007) Curr Opin Cardiol , vol.23 , pp. 344-351
    • Klos, K.L.E.1    Kullo, I.J.2
  • 19
    • 77956812723 scopus 로고    scopus 로고
    • Genetic causes of high and low serum HDL-cholesterol
    • Weissglas-Volkov D, Pajukanta P, (2010) Genetic causes of high and low serum HDL-cholesterol. J Lipid Res 51: 2032-2057.
    • (2010) J Lipid Res , vol.51 , pp. 2032-2057
    • Weissglas-Volkov, D.1    Pajukanta, P.2
  • 21
    • 0037316555 scopus 로고    scopus 로고
    • Inhibition of endothelial lipase causes increased HDL cholesterol levels in vivo
    • Jin W, Millar JS, Broedl U, Glick JM, Rader DJ, (2003) Inhibition of endothelial lipase causes increased HDL cholesterol levels in vivo. J Clin Invest 111: 357-362.
    • (2003) J Clin Invest , vol.111 , pp. 357-362
    • Jin, W.1    Millar, J.S.2    Broedl, U.3    Glick, J.M.4    Rader, D.J.5
  • 22
    • 84855290539 scopus 로고    scopus 로고
    • Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol
    • Khetarpal SA, Edmondson AC, Raghavan A, Heeli H, Jin W, et al. (2011) Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol. PLoS Genet 7: e1002393.
    • (2011) PLoS Genet , vol.7
    • Khetarpal, S.A.1    Edmondson, A.C.2    Raghavan, A.3    Heeli, H.4    Jin, W.5
  • 23
    • 0037056085 scopus 로고    scopus 로고
    • Identification of genetic variants in endothelial lipase in persons with elevated high-density lipoprotein cholesterol
    • deLemos AS, Wolfe ML, Long CJ, Sivapackianathan R, Rader DJ, (2002) Identification of genetic variants in endothelial lipase in persons with elevated high-density lipoprotein cholesterol. Circulation 106: 1321-1326.
    • (2002) Circulation , vol.106 , pp. 1321-1326
    • deLemos, A.S.1    Wolfe, M.L.2    Long, C.J.3    Sivapackianathan, R.4    Rader, D.J.5
  • 24
    • 26244455164 scopus 로고    scopus 로고
    • Cholesteryl ester transfer protein directly mediates selective uptake of high density lipoprotein cholesteryl esters by the liver
    • Gauthier A, Lau P, Zha X, Milne R, McPherson R, (2005) Cholesteryl ester transfer protein directly mediates selective uptake of high density lipoprotein cholesteryl esters by the liver. Arterioscler Thromb Vasc Biol 25: 2177-2184.
    • (2005) Arterioscler Thromb Vasc Biol , vol.25 , pp. 2177-2184
    • Gauthier, A.1    Lau, P.2    Zha, X.3    Milne, R.4    McPherson, R.5
  • 25
    • 0022346576 scopus 로고
    • Deficiency of serum cholesteryl-ester transfer activity in patients with familial hyperalphalipoproteinaemia
    • Koizumi J, Mabuchi H, Yoshimura A, Michishita I, Takeda M, et al. (1985) Deficiency of serum cholesteryl-ester transfer activity in patients with familial hyperalphalipoproteinaemia. Atherosclerosis 58: 175-186.
    • (1985) Atherosclerosis , vol.58 , pp. 175-186
    • Koizumi, J.1    Mabuchi, H.2    Yoshimura, A.3    Michishita, I.4    Takeda, M.5
  • 26
    • 0024415898 scopus 로고
    • Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins
    • Brown ML, Inazu A, Hesler CB, Agellon LB, Mann C, et al. (1989) Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. Nature 342: 448-451.
    • (1989) Nature , vol.342 , pp. 448-451
    • Brown, M.L.1    Inazu, A.2    Hesler, C.B.3    Agellon, L.B.4    Mann, C.5
  • 27
    • 0030798627 scopus 로고    scopus 로고
    • Substrate specificities of the three members of the human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3
    • Wandall HH, Hassan H, Mirgorodskaya E, Kristensen AK, Roepstorff P, et al. (1997) Substrate specificities of the three members of the human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1,-T2, and -T3. J Biol Chem 272: 23503-23514.
    • (1997) J Biol Chem , vol.272 , pp. 23503-23514
    • Wandall, H.H.1    Hassan, H.2    Mirgorodskaya, E.3    Kristensen, A.K.4    Roepstorff, P.5
  • 28
    • 82955239839 scopus 로고    scopus 로고
    • Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man
    • Holleboom AG, Karlsson H, Lin RS, Beres TM, Sierts JA, et al. (2011) Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. Cell Metab 14: 811-818.
    • (2011) Cell Metab , vol.14 , pp. 811-818
    • Holleboom, A.G.1    Karlsson, H.2    Lin, R.S.3    Beres, T.M.4    Sierts, J.A.5
  • 29
    • 0025780049 scopus 로고
    • Apolipoprotein C-III(Lys58→Glu): Identification of an Apolipoprotein C-III variant in a family with hyperalphalipoproteinemia
    • von Eckardstein A, Holz H, Sandkamp M, Weng W, Funke H, et al. (1991) Apolipoprotein C-III(Lys58→Glu): Identification of an Apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. J Clin Invest 87: 1724-1731.
    • (1991) J Clin Invest , vol.87 , pp. 1724-1731
    • von Eckardstein, A.1    Holz, H.2    Sandkamp, M.3    Weng, W.4    Funke, H.5
  • 30
    • 58149262866 scopus 로고    scopus 로고
    • A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection
    • Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science 322: 1702-1705.
    • (2008) Science , vol.322 , pp. 1702-1705
    • Pollin, T.I.1    Damcott, C.M.2    Shen, H.3    Ott, S.H.4    Shelton, J.5
  • 31
    • 0019080053 scopus 로고
    • The epidemiology of plasma high-density lipoprotein cholesterol levels. The Lipid Research Clinics Program Prevalence Study
    • Heiss G, Johnson NJ, Reiland S, Davis CE, Tyroler HA, (1980) The epidemiology of plasma high-density lipoprotein cholesterol levels. The Lipid Research Clinics Program Prevalence Study. Circulation 62: IV116-136.
    • (1980) Circulation , vol.62
    • Heiss, G.1    Johnson, N.J.2    Reiland, S.3    Davis, C.E.4    Tyroler, H.A.5
  • 32
    • 0033576209 scopus 로고    scopus 로고
    • Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux
    • Marcil M, Brooks-Wilson A, Clee SM, Roomp K, Zhang LH, et al. (1999) Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet 354: 1341-1346.
    • (1999) Lancet , vol.354 , pp. 1341-1346
    • Marcil, M.1    Brooks-Wilson, A.2    Clee, S.M.3    Roomp, K.4    Zhang, L.H.5
  • 33
    • 0029007219 scopus 로고
    • HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients
    • Rogler G, Trumbach B, Klima B, Lackner KJ, Schmitz G, (1995) HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients. Arterioscler Thromb Vasc Biol 15: 683-690.
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 683-690
    • Rogler, G.1    Trumbach, B.2    Klima, B.3    Lackner, K.J.4    Schmitz, G.5
  • 34
    • 0030787856 scopus 로고    scopus 로고
    • Analysis of donor splice signals in different organisms
    • Rogozin IB, Milanesi L, (1997) Analysis of donor splice signals in different organisms. J Mol Evol 45: 50-59.
    • (1997) J Mol Evol , vol.45 , pp. 50-59
    • Rogozin, I.B.1    Milanesi, L.2
  • 35
    • 0036713510 scopus 로고    scopus 로고
    • Humans non-synonymous SNPs: server and survey
    • Ramensky V, Bork P, Sunyaev S, (2002) Humans non-synonymous SNPs: server and survey. Nucleic Acids Res 30: 3894-3900.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 37
    • 33846014328 scopus 로고    scopus 로고
    • A strategy to discovery genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)
    • Morgenthaler S, Thilly WG, (2007) A strategy to discovery genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST). Mutation Res 615: 28-56.
    • (2007) Mutation Res , vol.615 , pp. 28-56
    • Morgenthaler, S.1    Thilly, W.G.2
  • 38
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • Li B, Leal SM, (2008) Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data. Am J Hum Genet 83: 311-321.
    • (2008) Am J Hum Genet , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 39
    • 0030933460 scopus 로고    scopus 로고
    • The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
    • Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, et al. (1997) The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res 38: 191-205.
    • (1997) J Lipid Res , vol.38 , pp. 191-205
    • Kuivenhoven, J.A.1    Pritchard, H.2    Hill, J.3    Frohlich, J.4    Assmann, G.5
  • 40
    • 4644356978 scopus 로고    scopus 로고
    • A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease
    • Hovingh GK, Brownlie A, Bisoendial RJ, Dube MP, Levels JH, et al. (2004) A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease. J Am Coll Cardiol 44: 1429-1435.
    • (2004) J Am Coll Cardiol , vol.44 , pp. 1429-1435
    • Hovingh, G.K.1    Brownlie, A.2    Bisoendial, R.J.3    Dube, M.P.4    Levels, J.H.5
  • 42
    • 0035965240 scopus 로고    scopus 로고
    • Adenovirus-mediated rescue of lipoprotein lipase-deficient mice. Lipolysis of triglyceride-rich lipoproteins is essential for high density lipoprotein maturation in mice
    • Strauss JG, Frank S, Kratky D, Hammerle G, Hrzenjak A, et al. (2001) Adenovirus-mediated rescue of lipoprotein lipase-deficient mice. Lipolysis of triglyceride-rich lipoproteins is essential for high density lipoprotein maturation in mice. J Biol Chem 276: 36083-36090.
    • (2001) J Biol Chem , vol.276 , pp. 36083-36090
    • Strauss, J.G.1    Frank, S.2    Kratky, D.3    Hammerle, G.4    Hrzenjak, A.5
  • 43
    • 0036906508 scopus 로고    scopus 로고
    • Lipoprotein lipase: genetics, lipid uptake, and regulation
    • Merkel M, Eckel RH, Goldberg IJ, (2002) Lipoprotein lipase: genetics, lipid uptake, and regulation. J Lipid Res 43: 1997-2006.
    • (2002) J Lipid Res , vol.43 , pp. 1997-2006
    • Merkel, M.1    Eckel, R.H.2    Goldberg, I.J.3
  • 44
    • 70350788822 scopus 로고    scopus 로고
    • Single-dose pharmacokinetics and pharmacodynamics of anacetrapib, a potent cholesterol ester transfer protein (CETP) inhibitor, in healthy subjects
    • Krishna R, Garg A, Panebianco D, Cote J, Bergman AJ, et al. (2009) Single-dose pharmacokinetics and pharmacodynamics of anacetrapib, a potent cholesterol ester transfer protein (CETP) inhibitor, in healthy subjects. Br J Clin Pharmacol 68: 535-545.
    • (2009) Br J Clin Pharmacol , vol.68 , pp. 535-545
    • Krishna, R.1    Garg, A.2    Panebianco, D.3    Cote, J.4    Bergman, A.J.5
  • 45
    • 79953825909 scopus 로고    scopus 로고
    • Revisiting Mendelian disorders through exome sequencing
    • Ku CS, Naidoo N, Pawitan Y, (2011) Revisiting Mendelian disorders through exome sequencing. Hum Genet 129: 351-370.
    • (2011) Hum Genet , vol.129 , pp. 351-370
    • Ku, C.S.1    Naidoo, N.2    Pawitan, Y.3
  • 46
    • 59849113821 scopus 로고    scopus 로고
    • Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
    • Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, et al. (2009) Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 27: 182-189.
    • (2009) Nat Biotechnol , vol.27 , pp. 182-189
    • Gnirke, A.1    Melnikov, A.2    Maguire, J.3    Rogov, P.4    LeProust, E.M.5
  • 47
    • 84857628622 scopus 로고    scopus 로고
    • Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT
    • Tietjen I, Hovingh GK, Singaraja R, Radomski C, McEwen J, et al. (2012) Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT. Biochim Biophys Acta 1821: 416-424.
    • (2012) Biochim Biophys Acta , vol.1821 , pp. 416-424
    • Tietjen, I.1    Hovingh, G.K.2    Singaraja, R.3    Radomski, C.4    McEwen, J.5
  • 48
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, et al. (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305: 869-872.
    • (2004) Science , vol.305 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3    Marcel, Y.L.4    McPherson, R.5


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