메뉴 건너뛰기




Volumn 59, Issue 2, 2014, Pages 88-94

Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels

Author keywords

African population; Haplotypes; LDL C; LDLR

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 84896809484     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.123     Document Type: Article
Times cited : (16)

References (39)
  • 1
    • 0019473234 scopus 로고
    • Regulation of plasma cholesterol by lipoprotein receptors
    • Brown, M. S., Kovanen, P. T. & Goldstein, J. L. Regulation of plasma cholesterol by lipoprotein receptors. Science 212, 628-635 (1981).
    • (1981) Science , vol.212 , pp. 628-635
    • Brown, M.S.1    Kovanen, P.T.2    Goldstein, J.L.3
  • 2
    • 55649099411 scopus 로고    scopus 로고
    • Common and rare gene variants affecting plasma LDL cholesterol
    • Burnett, J. R. & Hooper, A. J. Common and rare gene variants affecting plasma LDL cholesterol. Clin. Biochem. Rev. 29, 11-26 (2008).
    • (2008) Clin. Biochem. Rev. , vol.29 , pp. 11-26
    • Burnett, J.R.1    Hooper, A.J.2
  • 4
    • 0031040122 scopus 로고    scopus 로고
    • Coronary heart disease: Outlook for Africa
    • Walker, A. R. P. & Sareli, P. Coronary heart disease: outlook for Africa. J. R. Sc. Med. 90, 23-27 (1997).
    • (1997) J. R. Sc. Med. , vol.90 , pp. 23-27
    • Walker, A.R.P.1    Sareli, P.2
  • 6
    • 33947679772 scopus 로고    scopus 로고
    • Mechanisms of disease: Genetic causes of familial hypercholesterolemia
    • Soutar, A. K. & Naoumova, R. P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat. Clin. Pract. Card. 4, 214-225 (2007).
    • (2007) Nat. Clin. Pract. Card. , vol.4 , pp. 214-225
    • Soutar, A.K.1    Naoumova, R.P.2
  • 7
    • 0032588306 scopus 로고    scopus 로고
    • Mutation -59c-4t in repeat 2 of the LDL receptor promoter: Reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia
    • Scholtz, C., Peeters, A., Hoogendijk, C., Thiart, R., Villiers, J., Hillermann, R. et al. Mutation -59c-4t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia. Hum. Mol. Genet. 8, 2025-2030 (1999).
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2025-2030
    • Scholtz, C.1    Peeters, A.2    Hoogendijk, C.3    Thiart, R.4    Villiers, J.5    Hillermann, R.6
  • 8
    • 67049146795 scopus 로고    scopus 로고
    • The Prospective Urban Rural Epidemiology (PURE) study: Examining the impact of societal influences on chronic non-communicable diseases in low-, middle-, and high-income countries
    • PURE Investigators-Writing Group
    • Teo, K., Chow, C. K., Vaz, M., Rangarajan, S. & Yusuf, S. PURE Investigators-Writing Group. The Prospective Urban Rural Epidemiology (PURE) study: examining the impact of societal influences on chronic non-communicable diseases in low-, middle-, and high-income countries. Am. Heart. J. 158, 1-7, e1 (2009).
    • (2009) Am. Heart. J. , vol.158 , Issue.1-7
    • Teo, K.1    Chow, C.K.2    Vaz, M.3    Rangarajan, S.4    Yusuf, S.5
  • 9
    • 0015348189 scopus 로고
    • Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge
    • Friedewald, W. T., Levy, R. I. & Fredrickson, D. S. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin. Chem. 18, 499-502 (1972).
    • (1972) Clin. Chem. , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.I.2    Fredrickson, D.S.3
  • 10
    • 0036842950 scopus 로고    scopus 로고
    • Detecting polymorphisms and mutations in candidate genes
    • Collins, J. S. & Schwartz, C. E. Detecting polymorphisms and mutations in candidate genes. Am. J. Hum. Genet. 71, 1251 (2002).
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1251
    • Collins, J.S.1    Schwartz, C.E.2
  • 14
    • 0035129131 scopus 로고    scopus 로고
    • A culture-sensitive quantitative food frequency questionnaire used in an African population: 2. Relative validation by. 7-day weighed records and biomarkers
    • MacIntyre, U., Venter, C. & Vorster, H. A culture-sensitive quantitative food frequency questionnaire used in an African population: 2. Relative validation by 7-day weighed records and biomarkers. Public Health Nutr. 4, 63 (2001).
    • (2001) Public Health Nutr. , vol.4 , pp. 63
    • Macintyre, U.1    Venter, C.2    Vorster, H.3
  • 16
    • 67649300363 scopus 로고    scopus 로고
    • (eds Betteridge, D. J., Illingworth, D. R. & Shepherd, J.) Arnold Publishers, London
    • Soutar, A. K. in Low-density Lipoprotein Receptors (eds Betteridge, D. J., Illingworth, D. R. & Shepherd, J.) 303-322 (Arnold Publishers, London, 1999).
    • (1999) Low-density Lipoprotein Receptors , pp. 303-322
    • Soutar, A.K.1
  • 17
    • 0032248337 scopus 로고    scopus 로고
    • Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia
    • Cenarro, A., Jensen, H. K., Casao, E., Civeira, F., González- Bonillo, J., Rodríguez-Rey, J. C. et al. Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Hum. Mutat. 11, 413-413 (1998).
    • (1998) Hum. Mutat. , vol.11 , pp. 413-413
    • Cenarro, A.1    Jensen, H.K.2    Casao, E.3    Civeira, F.4    González-Bonillo, J.5    Rodríguez-Rey, J.C.6
  • 18
    • 0029082090 scopus 로고
    • Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in la Habana
    • Pereira, E., Ferreira, R., Hermelin, B., Thomas, G., Bernard, C., Bertrand, V. et al. Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. Hum. Genet. 96, 319-322 (1995).
    • (1995) Hum. Genet. , vol.96 , pp. 319-322
    • Pereira, E.1    Ferreira, R.2    Hermelin, B.3    Thomas, G.4    Bernard, C.5    Bertrand, V.6
  • 19
    • 0029059348 scopus 로고
    • An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia
    • Ekström, U., Abrahamson, M., Sveger, T., Lombardi, P. & Nilsson-Ehle, P. An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia. Hum. Genet. 96, 147-150 (1995).
    • (1995) Hum. Genet. , vol.96 , pp. 147-150
    • Ekström, U.1    Abrahamson, M.2    Sveger, T.3    Lombardi, P.4    Nilsson-Ehle, P.5
  • 20
    • 77958497833 scopus 로고    scopus 로고
    • Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study
    • Lu, Y., Feskens, E. J., Boer, J., Imholz, S., Verschuren, W., Wijmenga, C. et al. Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study. Atherosclerosis 213, 200-205 (2010).
    • (2010) Atherosclerosis , vol.213 , pp. 200-205
    • Lu, Y.1    Feskens, E.J.2    Boer, J.3    Imholz, S.4    Verschuren, W.5    Wijmenga, C.6
  • 21
    • 0036934013 scopus 로고    scopus 로고
    • Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia
    • Amsellem, S., Briffaut, D., Carrié, A., Rabès, J., Girardet, J., Fredenrich, A. et al. Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. Hum. Genet. 111, 501-510 (2002).
    • (2002) Hum. Genet. , vol.111 , pp. 501-510
    • Amsellem, S.1    Briffaut, D.2    Carrié, A.3    Rabès, J.4    Girardet, J.5    Fredenrich, A.6
  • 22
    • 33749025102 scopus 로고    scopus 로고
    • Genetic causes of familial hypercholesterolaemia in patients in the UK: Relation to plasma lipid levels and coronary heart disease risk
    • Humphries, S. E., Whittall, R. A., Hubbart, C. S., Maplebeck, S., Cooper, J. A., Soutar, A. et al. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J. Med. Genet. 43, 943-949 (2006).
    • (2006) J. Med. Genet. , vol.43 , pp. 943-949
    • Humphries, S.E.1    Whittall, R.A.2    Hubbart, C.S.3    Maplebeck, S.4    Cooper, J.A.5    Soutar, A.6
  • 23
    • 0029069578 scopus 로고
    • Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento)
    • Lelli, N., Garuti, R., Ghisellini, M., Tiozzo, R., Rolleri, M., Aimale, V. et al. Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento). J. Lipid Res. 36, 1315-1324 (1995).
    • (1995) J. Lipid Res. , vol.36 , pp. 1315-1324
    • Lelli, N.1    Garuti, R.2    Ghisellini, M.3    Tiozzo, R.4    Rolleri, M.5    Aimale, V.6
  • 24
    • 26444578961 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in St-Petersburg: The known and novel mutations found in the low density lipoprotein receptor gene in Russia
    • Zakharova, F., Damgaard, D., Mandelshtam, M., Golubkov, V., Nissen, P., Nilsen, G. et al. Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. BMC Med. Genet. 6, 6 (2005).
    • (2005) BMC Med. Genet. , vol.6 , pp. 6
    • Zakharova, F.1    Damgaard, D.2    Mandelshtam, M.3    Golubkov, V.4    Nissen, P.5    Nilsen, G.6
  • 26
    • 84896804267 scopus 로고    scopus 로고
    • The genetic characterization of familial hypercholesterolemia in Pakistan
    • Rafiq, S., Ahmed, N., Soutar, A. & Qamar, R. The genetic characterization of familial hypercholesterolemia in Pakistan. J. Basic Appl. Sci. 7, 21-25 (2011).
    • (2011) J. Basic Appl. Sci. , vol.7 , pp. 21-25
    • Rafiq, S.1    Ahmed, N.2    Soutar, A.3    Qamar, R.4
  • 30
    • 33745728414 scopus 로고    scopus 로고
    • A systematic analysis of disease-associated variants in the 30 regulatory regions of human protein-coding genes I: General principles and overview
    • Chen, J., Férec, C. & Cooper, D. N. A systematic analysis of disease-associated variants in the 30 regulatory regions of human protein-coding genes I: general principles and overview. Hum. Genet. 120, 1-21 (2006).
    • (2006) Hum. Genet. , vol.120 , pp. 1-21
    • Chen, J.1    Férec, C.2    Cooper, D.N.3
  • 31
    • 0037020162 scopus 로고    scopus 로고
    • Bile acids enhance low density lipoprotein receptor gene expression via a MAPK cascade-mediated stabilization of mRNA
    • Nakahara, M., Fujii, H., Maloney, P. R., Shimizu, M. & Sato, R. Bile acids enhance low density lipoprotein receptor gene expression via a MAPK cascade-mediated stabilization of mRNA. J. Biol. Chem. 277, 37229-37234 (2002).
    • (2002) J. Biol. Chem. , vol.277 , pp. 37229-37234
    • Nakahara, M.1    Fujii, H.2    Maloney, P.R.3    Shimizu, M.4    Sato, R.5
  • 32
    • 0031895061 scopus 로고    scopus 로고
    • Stabilization and cytoskeletal-association of LDL receptor mRNA are mediated by distinct domains in its 30 untranslated region
    • Wilson, G., Vasa, M. & Deeley, R. Stabilization and cytoskeletal-association of LDL receptor mRNA are mediated by distinct domains in its 30 untranslated region. J. Lipid Res. 39, 1025-1032 (1998).
    • (1998) J. Lipid Res. , vol.39 , pp. 1025-1032
    • Wilson, G.1    Vasa, M.2    Deeley, R.3
  • 33
    • 0035830883 scopus 로고    scopus 로고
    • Doubling expression of the low density lipoprotein receptor by truncation of the 30-untranslated region sequence ameliorates type iii hyperlipoproteinemia in mice expressing the human apoe2 isoform
    • Knouff, C., Malloy, S., Wilder, J., Altenburg, M. K. & Maeda, N. Doubling expression of the low density lipoprotein receptor by truncation of the 30-untranslated region sequence ameliorates type iii hyperlipoproteinemia in mice expressing the human apoe2 isoform. J. Biol. Chem. 276, 3856-3862 (2001).
    • (2001) J. Biol. Chem. , vol.276 , pp. 3856-3862
    • Knouff, C.1    Malloy, S.2    Wilder, J.3    Altenburg, M.K.4    Maeda, N.5
  • 34
    • 34147143495 scopus 로고    scopus 로고
    • Quantitative effects of common genetic variations in the 30 UTR of the human LDLreceptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study
    • Muallem, H., North, K. E., Kakoki, M., Wojczynski, M. K., Li, X., Grove, M. et al. Quantitative effects of common genetic variations in the 30 UTR of the human LDLreceptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study. Hum. Genet. 121, 421-431 (2007).
    • (2007) Hum. Genet. , vol.121 , pp. 421-431
    • Muallem, H.1    North, K.E.2    Kakoki, M.3    Wojczynski, M.K.4    Li, X.5    Grove, M.6
  • 35
    • 52349083201 scopus 로고    scopus 로고
    • Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease-A Mendelian Randomisation Study
    • Linsel-Nitschke, P., Götz, A., Erdmann, J., Braenne, I., Braund, P., Hengstenberg, C. et al. Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease-A Mendelian Randomisation Study. PLoS One 3, 1-9 (2008).
    • (2008) PLoS One , vol.3 , pp. 1-9
    • Linsel-Nitschke, P.1    Götz, A.2    Erdmann, J.3    Braenne, I.4    Braund, P.5    Hengstenberg, C.6
  • 36
    • 0028947242 scopus 로고
    • Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals
    • Gudnason, V., Patel, D., Sun, X., Humphries, S., Soutar, A. & Knight, B. Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals. Clin. Genet. 47, 68-74 (1995).
    • (1995) Clin. Genet. , vol.47 , pp. 68-74
    • Gudnason, V.1    Patel, D.2    Sun, X.3    Humphries, S.4    Soutar, A.5    Knight, B.6
  • 37
    • 33749552162 scopus 로고    scopus 로고
    • The A370T variant (StuI polymorphism) in the LDL receptor gene is not associated with plasma lipid levels or cardiovascular risk in UK men
    • Vieira, J. R. S., Whittall, R. A., Cooper, J. A., Miller, G. J. & Humphries, S. E. The A370T variant (StuI polymorphism) in the LDL receptor gene is not associated with plasma lipid levels or cardiovascular risk in UK men. Ann. Hum. Genet. 70, 697-704 (2006).
    • (2006) Ann. Hum. Genet. , vol.70 , pp. 697-704
    • Vieira, J.R.S.1    Whittall, R.A.2    Cooper, J.A.3    Miller, G.J.4    Humphries, S.E.5
  • 38
    • 0037908684 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in Morocco: First report of mutations in the LDL receptor gene
    • El Messal, M., Chihab, K. A., Chater, R., Vallvé, J. C., Bennis, F., Hafidi, A. et al. Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. J. Hum. Genet. 48, 199-203 (2003).
    • (2003) J. Hum. Genet. , vol.48 , pp. 199-203
    • El Messal, M.1    Chihab, K.A.2    Chater, R.3    Vallvé, J.C.4    Bennis, F.5    Hafidi, A.6
  • 39
    • 0031833042 scopus 로고    scopus 로고
    • LDLR Database: New additions to the database and the software, and results of the first molecular analysis
    • Varret, M., Rabés, J., Thiart, R., Kotze, M. J., Baron, H., Cenarro, A. et al. LDLR Database: new additions to the database and the software, and results of the first molecular analysis. Nucleic Acids Res. 26, 248-252 (1998).
    • (1998) Nucleic Acids Res. , vol.26 , pp. 248-252
    • Varret, M.1    Rabés, J.2    Thiart, R.3    Kotze, M.J.4    Baron, H.5    Cenarro, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.