메뉴 건너뛰기




Volumn 8, Issue 4, 2013, Pages

Genetic Polymorphisms in LDLR, APOB, PCSK9 and Other Lipid Related Genes Associated with Familial Hypercholesterolemia in Malaysia

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 84875987106     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0060729     Document Type: Article
Times cited : (41)

References (46)
  • 1
    • 0041743167 scopus 로고    scopus 로고
    • Monogenic hypercholesterolemia: new insights in pathogenesis and treatment
    • Rader DJ, Cohen J, Hobbs HH, (2003) Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 111: 1795-1803.
    • (2003) J Clin Invest , vol.111 , pp. 1795-1803
    • Rader, D.J.1    Cohen, J.2    Hobbs, H.H.3
  • 2
    • 67349261433 scopus 로고    scopus 로고
    • Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
    • Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, et al. (2009) Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. Clin Biochem 42: 899-903.
    • (2009) Clin Biochem , vol.42 , pp. 899-903
    • Alonso, R.1    Defesche, J.C.2    Tejedor, D.3    Castillo, S.4    Stef, M.5
  • 3
    • 0023025526 scopus 로고
    • Is relationship between serum cholesterol and risk of premature death from coronary heart disease continuous and graded? Findings in 356,222 primary screenees of the Multiple Risk Factor Intervention Trial (MRFIT)
    • Stamler J, Wentworth D, Neaton JD, (1986) Is relationship between serum cholesterol and risk of premature death from coronary heart disease continuous and graded? Findings in 356,222 primary screenees of the Multiple Risk Factor Intervention Trial (MRFIT). JAMA 256: 2823-2828.
    • (1986) JAMA , vol.256 , pp. 2823-2828
    • Stamler, J.1    Wentworth, D.2    Neaton, J.D.3
  • 4
    • 0018949549 scopus 로고
    • Prevalence of coronary heart disease in the Framingham Offspring Study: role of lipoprotein cholesterols
    • Wilson PW, Garrison RJ, Castelli WP, Feinleib M, McNamara PM, et al. (1980) Prevalence of coronary heart disease in the Framingham Offspring Study: role of lipoprotein cholesterols. Am J Cardiol 46: 649-654.
    • (1980) Am J Cardiol , vol.46 , pp. 649-654
    • Wilson, P.W.1    Garrison, R.J.2    Castelli, W.P.3    Feinleib, M.4    McNamara, P.M.5
  • 5
    • 0026558610 scopus 로고
    • Lipids and risk of coronary heart disease. The Framingham Study
    • Castelli WP, Anderson K, Wilson PW, Levy D, (1992) Lipids and risk of coronary heart disease. The Framingham Study. Ann Epidemiol 2: 23-28.
    • (1992) Ann Epidemiol , vol.2 , pp. 23-28
    • Castelli, W.P.1    Anderson, K.2    Wilson, P.W.3    Levy, D.4
  • 6
    • 0025633323 scopus 로고
    • Lipoproteins and atherogenesis. Current concepts
    • Steinberg D, Witztum JL, (1990) Lipoproteins and atherogenesis. Current concepts. JAMA 264: 3047-3052.
    • (1990) JAMA , vol.264 , pp. 3047-3052
    • Steinberg, D.1    Witztum, J.L.2
  • 7
    • 32644460466 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia
    • Marais AD, (2004) Familial hypercholesterolaemia. Clin Biochem Rev 25: 49-68.
    • (2004) Clin Biochem Rev , vol.25 , pp. 49-68
    • Marais, A.D.1
  • 8
    • 33947679772 scopus 로고    scopus 로고
    • Mechanisms of disease: genetic causes of familial hypercholesterolemia
    • Soutar AK, Naoumova RP, (2007) Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 4: 214-225.
    • (2007) Nat Clin Pract Cardiovasc Med , vol.4 , pp. 214-225
    • Soutar, A.K.1    Naoumova, R.P.2
  • 9
    • 1542713799 scopus 로고    scopus 로고
    • Joe Goldstein and Mike Brown: from cholesterol homeostasis to new paradigms in membrane biology
    • Anderson RG, (2003) Joe Goldstein and Mike Brown: from cholesterol homeostasis to new paradigms in membrane biology. Trends Cell Biol 13: 534-539.
    • (2003) Trends Cell Biol , vol.13 , pp. 534-539
    • Anderson, R.G.1
  • 10
    • 35148883209 scopus 로고    scopus 로고
    • USF1 contributes to high serum lipid levels in Dutch FCHL families and U.S. whites with coronary artery disease
    • Lee JC, Weissglas-Volkov D, Kyttala M, Sinsheimer JS, Jokiaho A, et al. (2007) USF1 contributes to high serum lipid levels in Dutch FCHL families and U.S. whites with coronary artery disease. Arterioscler Thromb Vasc Biol 27: 2222-2227.
    • (2007) Arterioscler Thromb Vasc Biol , vol.27 , pp. 2222-2227
    • Lee, J.C.1    Weissglas-Volkov, D.2    Kyttala, M.3    Sinsheimer, J.S.4    Jokiaho, A.5
  • 11
    • 0029970057 scopus 로고    scopus 로고
    • Apolipoprotein E as a risk factor for coronary heart disease: a genetic and molecular biology approach
    • de Knijff P, Havekes LM, (1996) Apolipoprotein E as a risk factor for coronary heart disease: a genetic and molecular biology approach. Curr Opin Lipidol 7: 59-63.
    • (1996) Curr Opin Lipidol , vol.7 , pp. 59-63
    • de Knijff, P.1    Havekes, L.M.2
  • 13
    • 0035080108 scopus 로고    scopus 로고
    • Severe hypercholesterolemia in a double heterozygote for lipoprotein lipase deficiency (LPL(Arita)) and apolipoprotein epsilon4: a report of a family with LPL(Arita)
    • Ando H, Nishimura Y, Nemoto T, Takamura T, Nagai Y, et al. (2001) Severe hypercholesterolemia in a double heterozygote for lipoprotein lipase deficiency (LPL(Arita)) and apolipoprotein epsilon4: a report of a family with LPL(Arita). Endocr J 48: 113-118.
    • (2001) Endocr J , vol.48 , pp. 113-118
    • Ando, H.1    Nishimura, Y.2    Nemoto, T.3    Takamura, T.4    Nagai, Y.5
  • 14
    • 77949426167 scopus 로고    scopus 로고
    • Association of LIPC -250G>A polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations
    • Meng L, Ruixing Y, Yiyang L, Xingjiang L, Kela L, et al. (2010) Association of LIPC -250G>A polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Lipids Health Dis 9: 28.
    • (2010) Lipids Health Dis , vol.9 , pp. 28
    • Meng, L.1    Ruixing, Y.2    Yiyang, L.3    Xingjiang, L.4    Kela, L.5
  • 15
    • 84867411475 scopus 로고    scopus 로고
    • SNP-SNP interactions discovered by logic regression explain Crohn's disease genetics
    • Dinu I, Mahasirimongkol S, Liu Q, Yanai H, Sharaf Eldin N, et al. (2012) SNP-SNP interactions discovered by logic regression explain Crohn's disease genetics. PLoS One 7: e43035.
    • (2012) PLoS One , vol.7
    • Dinu, I.1    Mahasirimongkol, S.2    Liu, Q.3    Yanai, H.4    Sharaf Eldin, N.5
  • 17
    • 78649942440 scopus 로고    scopus 로고
    • LDLR-Gene therapy for familial hypercholesterolaemia: problems, progress, and perspectives
    • Al-Allaf FA, Coutelle C, Waddington SN, David AL, Harbottle R, et al. (2010) LDLR-Gene therapy for familial hypercholesterolaemia: problems, progress, and perspectives. Int Arch Med 3: 36.
    • (2010) Int Arch Med , vol.3 , pp. 36
    • Al-Allaf, F.A.1    Coutelle, C.2    Waddington, S.N.3    David, A.L.4    Harbottle, R.5
  • 18
    • 0035852415 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia is underdiagnosed after AMI
    • Dorsch MF, Lawrance RA, Durham NP, Hall AS, (2001) Familial hypercholesterolaemia is underdiagnosed after AMI. BMJ 322: 111.
    • (2001) BMJ , vol.322 , pp. 111
    • Dorsch, M.F.1    Lawrance, R.A.2    Durham, N.P.3    Hall, A.S.4
  • 19
    • 55749083573 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia: underdiagnosed and undertreated
    • Rees A, (2008) Familial hypercholesterolaemia: underdiagnosed and undertreated. Eur Heart J 29: 2583-2584.
    • (2008) Eur Heart J , vol.29 , pp. 2583-2584
    • Rees, A.1
  • 20
    • 54349129519 scopus 로고    scopus 로고
    • Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia
    • Jarvik GP, Brunzell JD, Motulsky AG, (2008) Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia. J Am Coll Cardiol 52: 1554-1556.
    • (2008) J Am Coll Cardiol , vol.52 , pp. 1554-1556
    • Jarvik, G.P.1    Brunzell, J.D.2    Motulsky, A.G.3
  • 21
    • 79952709976 scopus 로고    scopus 로고
    • Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia
    • Al-Khateeb A, Zahri MK, Mohamed MS, Sasongko TH, Ibrahim S, et al. (2011) Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia. BMC Med Genet 12: 40.
    • (2011) BMC Med Genet , vol.12 , pp. 40
    • Al-Khateeb, A.1    Zahri, M.K.2    Mohamed, M.S.3    Sasongko, T.H.4    Ibrahim, S.5
  • 22
    • 70350186234 scopus 로고    scopus 로고
    • Familial hyperlipidaemia in Malaysian children
    • Khoo KL, Tan H, Liew YM, (2000) Familial hyperlipidaemia in Malaysian children. Med J Malaysia 55: 249-258.
    • (2000) Med J Malaysia , vol.55 , pp. 249-258
    • Khoo, K.L.1    Tan, H.2    Liew, Y.M.3
  • 23
    • 0034569894 scopus 로고    scopus 로고
    • Genetic causes of familial hypercholesterolaemia in a Malaysian population
    • Khoo KL, Van Acker P, Tan H, Deslypere JP, (2000) Genetic causes of familial hypercholesterolaemia in a Malaysian population. Med J Malaysia 55: 409-418.
    • (2000) Med J Malaysia , vol.55 , pp. 409-418
    • Khoo, K.L.1    Van Acker, P.2    Tan, H.3    Deslypere, J.P.4
  • 24
    • 0033843686 scopus 로고    scopus 로고
    • Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia
    • Khoo KL, van Acker P, Defesche JC, Tan H, van de Kerkhof L, et al. (2000) Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. Clin Genet 58: 98-105.
    • (2000) Clin Genet , vol.58 , pp. 98-105
    • Khoo, K.L.1    van Acker, P.2    Defesche, J.C.3    Tan, H.4    van de Kerkhof, L.5
  • 26
    • 34648851428 scopus 로고    scopus 로고
    • Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB)
    • Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, et al. (2006) Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB). Malays J Pathol 28: 7-15.
    • (2006) Malays J Pathol , vol.28 , pp. 7-15
    • Azian, M.1    Hapizah, M.N.2    Khalid, B.A.3    Khalid, Y.4    Rosli, A.5
  • 29
    • 44849108492 scopus 로고    scopus 로고
    • Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database
    • Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE, (2008) Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet 72: 485-498.
    • (2008) Ann Hum Genet , vol.72 , pp. 485-498
    • Leigh, S.E.1    Foster, A.H.2    Whittall, R.A.3    Hubbart, C.S.4    Humphries, S.E.5
  • 31
    • 18344396568 scopus 로고    scopus 로고
    • Minimum information about a microarray experiment (MIAME)-toward standards for microarray data
    • Brazma A, Hingamp P, Quackenbush J, Sherlock G, Spellman P, et al. (2001) Minimum information about a microarray experiment (MIAME)-toward standards for microarray data. Nat Genet 29: 365-371.
    • (2001) Nat Genet , vol.29 , pp. 365-371
    • Brazma, A.1    Hingamp, P.2    Quackenbush, J.3    Sherlock, G.4    Spellman, P.5
  • 32
    • 0033593229 scopus 로고    scopus 로고
    • Essential role in vivo of upstream stimulatory factors for a normal dietary response of the fatty acid synthase gene in the liver
    • Casado M, Vallet VS, Kahn A, Vaulont S, (1999) Essential role in vivo of upstream stimulatory factors for a normal dietary response of the fatty acid synthase gene in the liver. J Biol Chem 274: 2009-2013.
    • (1999) J Biol Chem , vol.274 , pp. 2009-2013
    • Casado, M.1    Vallet, V.S.2    Kahn, A.3    Vaulont, S.4
  • 33
    • 0033556309 scopus 로고    scopus 로고
    • Cooperative binding of upstream stimulatory factor and hepatic nuclear factor 4 drives the transcription of the human apolipoprotein A-II gene
    • Ribeiro A, Pastier D, Kardassis D, Chambaz J, Cardot P, (1999) Cooperative binding of upstream stimulatory factor and hepatic nuclear factor 4 drives the transcription of the human apolipoprotein A-II gene. J Biol Chem 274: 1216-1225.
    • (1999) J Biol Chem , vol.274 , pp. 1216-1225
    • Ribeiro, A.1    Pastier, D.2    Kardassis, D.3    Chambaz, J.4    Cardot, P.5
  • 34
    • 0037177851 scopus 로고    scopus 로고
    • Two initiator-like elements are required for the combined activation of the human apolipoprotein C-III promoter by upstream stimulatory factor and hepatic nuclear factor-4
    • Pastier D, Lacorte JM, Chambaz J, Cardot P, Ribeiro A, (2002) Two initiator-like elements are required for the combined activation of the human apolipoprotein C-III promoter by upstream stimulatory factor and hepatic nuclear factor-4. J Biol Chem 277: 15199-15206.
    • (2002) J Biol Chem , vol.277 , pp. 15199-15206
    • Pastier, D.1    Lacorte, J.M.2    Chambaz, J.3    Cardot, P.4    Ribeiro, A.5
  • 35
    • 33846002317 scopus 로고    scopus 로고
    • The involvement of upstream stimulatory factor 1 in Dutch patients with familial combined hyperlipidemia
    • van der Vleuten GM, Isaacs A, Hijmans A, van Duijn CM, Stalenhoef AF, et al. (2007) The involvement of upstream stimulatory factor 1 in Dutch patients with familial combined hyperlipidemia. J Lipid Res 48: 193-200.
    • (2007) J Lipid Res , vol.48 , pp. 193-200
    • van der Vleuten, G.M.1    Isaacs, A.2    Hijmans, A.3    van Duijn, C.M.4    Stalenhoef, A.F.5
  • 36
    • 33645928247 scopus 로고    scopus 로고
    • Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease
    • Yuan G, Wang J, Hegele RA, (2006) Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ 174: 1124-1129.
    • (2006) CMAJ , vol.174 , pp. 1124-1129
    • Yuan, G.1    Wang, J.2    Hegele, R.A.3
  • 37
    • 84862904109 scopus 로고    scopus 로고
    • Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population
    • Alex L, Chahil JK, Lye SH, Bagali P, Ler LW, (2012) Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population. J Hum Genet 57: 358-362.
    • (2012) J Hum Genet , vol.57 , pp. 358-362
    • Alex, L.1    Chahil, J.K.2    Lye, S.H.3    Bagali, P.4    Ler, L.W.5
  • 38
    • 4444376916 scopus 로고    scopus 로고
    • Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review
    • Austin MA, Hutter CM, Zimmern RL, Humphries SE, (2004) Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 160: 407-420.
    • (2004) Am J Epidemiol , vol.160 , pp. 407-420
    • Austin, M.A.1    Hutter, C.M.2    Zimmern, R.L.3    Humphries, S.E.4
  • 39
    • 0028901081 scopus 로고
    • Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing
    • Lombardi P, Sijbrands EJ, van de Giessen K, Smelt AH, Kastelein JJ, et al. (1995) Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 36: 860-867.
    • (1995) J Lipid Res , vol.36 , pp. 860-867
    • Lombardi, P.1    Sijbrands, E.J.2    van de Giessen, K.3    Smelt, A.H.4    Kastelein, J.J.5
  • 40
    • 27644546712 scopus 로고    scopus 로고
    • Population structure, differential bias and genomic control in a large-scale, case-control association study
    • Clayton DG, Walker NM, Smyth DJ, Pask R, Cooper JD, et al. (2005) Population structure, differential bias and genomic control in a large-scale, case-control association study. Nat Genet 37: 1243-1246.
    • (2005) Nat Genet , vol.37 , pp. 1243-1246
    • Clayton, D.G.1    Walker, N.M.2    Smyth, D.J.3    Pask, R.4    Cooper, J.D.5
  • 41
    • 21744448518 scopus 로고    scopus 로고
    • Hardy-Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power
    • Salanti G, Amountza G, Ntzani EE, Ioannidis JP, (2005) Hardy-Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power. Eur J Hum Genet 13: 840-848.
    • (2005) Eur J Hum Genet , vol.13 , pp. 840-848
    • Salanti, G.1    Amountza, G.2    Ntzani, E.E.3    Ioannidis, J.P.4
  • 42
    • 33744454405 scopus 로고    scopus 로고
    • Quantification of the power of Hardy-Weinberg equilibrium testing to detect genotyping error
    • Cox DG, Kraft P, (2006) Quantification of the power of Hardy-Weinberg equilibrium testing to detect genotyping error. Hum Hered 61: 10-14.
    • (2006) Hum Hered , vol.61 , pp. 10-14
    • Cox, D.G.1    Kraft, P.2
  • 43
    • 33748804424 scopus 로고    scopus 로고
    • A tutorial on statistical methods for population association studies
    • Balding DJ, (2006) A tutorial on statistical methods for population association studies. Nat Rev Genet 7: 781-791.
    • (2006) Nat Rev Genet , vol.7 , pp. 781-791
    • Balding, D.J.1
  • 44
    • 78349255044 scopus 로고    scopus 로고
    • Age-Related Hypercholesterolemia and HMG-CoA Reductase Dysregulation: Sex Does Matter (A Gender Perspective)
    • Trapani L, Pallottini V (2010) Age-Related Hypercholesterolemia and HMG-CoA Reductase Dysregulation: Sex Does Matter (A Gender Perspective). Curr Gerontol Geriatr Res: 420139.
    • (2010) Curr Gerontol Geriatr Res , pp. 420139
    • Trapani, L.1    Pallottini, V.2
  • 45
    • 26444501044 scopus 로고    scopus 로고
    • Pituitary control of cholesterol metabolism in normal and LDL receptor knock-out mice: effects of hypophysectomy and growth hormone treatment
    • Matasconi M, Parini P, Angelin B, Rudling M, (2005) Pituitary control of cholesterol metabolism in normal and LDL receptor knock-out mice: effects of hypophysectomy and growth hormone treatment. Biochim Biophys Acta 1736: 221-227.
    • (2005) Biochim Biophys Acta , vol.1736 , pp. 221-227
    • Matasconi, M.1    Parini, P.2    Angelin, B.3    Rudling, M.4
  • 46
    • 0030987347 scopus 로고    scopus 로고
    • Growth hormone and bile acid synthesis. Key role for the activity of hepatic microsomal cholesterol 7alpha-hydroxylase in the rat
    • Rudling M, Parini P, Angelin B, (1997) Growth hormone and bile acid synthesis. Key role for the activity of hepatic microsomal cholesterol 7alpha-hydroxylase in the rat. J Clin Invest 99: 2239-2245.
    • (1997) J Clin Invest , vol.99 , pp. 2239-2245
    • Rudling, M.1    Parini, P.2    Angelin, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.