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Volumn 50, Issue SUPPL., 2009, Pages

New technologies for delineating and characterizing the lipid exome: Prospects for understanding familial combined hyperlipidemia

Author keywords

Genetic heterogeneity; Linkage

Indexed keywords

LIPID;

EID: 66349102249     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.R800081-JLR200     Document Type: Review
Times cited : (6)

References (50)
  • 1
    • 39449094315 scopus 로고    scopus 로고
    • Tissue-specific stable isotope measurements of postprandial lipid metabolism in familial combined hyperlipidaemia
    • DOI 10.1016/j.atherosclerosis.2007.03.009, PII S0021915007001736
    • Evans, K., G. C. Burdge, S. A. Wootton, J. M. Collins, M. L. Clark, G. D. Tan, F. Karpe, and K. N. Frayn. 2008. Tissue-specific stable isotope measurements of postprandial lipid metabolism in familial combined hyperlipidaemia. Atherosclerosis. 197: 164-170. (Pubitemid 351273236)
    • (2008) Atherosclerosis , vol.197 , Issue.1 , pp. 164-170
    • Evans, K.1    Burdge, G.C.2    Wootton, S.A.3    Collins, J.M.4    Clark, M.L.5    Tan, G.D.6    Karpe, F.7    Frayn, K.N.8
  • 2
    • 43249096797 scopus 로고    scopus 로고
    • Microsomal triglyceride transfer protein in plasma and cellular lipid metabolism
    • DOI 10.1097/MOL.0b013e3282feea85, PII 0004143320080600000010
    • Hussain, M. M., P. Rava, X. Pan, K. Dai, S. K. Dougan, J. Iqbal, F. Lazare, and I. Khatun. 2008. Microsomal triglyceride transfer protein in plasma and cellular lipid metabolism. Curr. Opin. Lipidol. 19: 277-284. (Pubitemid 351653566)
    • (2008) Current Opinion in Lipidology , vol.19 , Issue.3 , pp. 277-284
    • Hussain, M.M.1    Rava, P.2    Pan, X.3    Dai, K.4    Dougan, S.K.5    Iqbal, J.6    Lazare, F.7    Khatun, I.8
  • 3
    • 33846283872 scopus 로고    scopus 로고
    • Effect of aging and obesity on the expression of dyslipidaemia in children from families with familial combined hyperlipidaemia
    • DOI 10.1042/CS20060234
    • ter Avest, E., A. D. Sniderman, S. J. Bredie, A. Wiegman, A. F. Stalenhoef, and J. de Graaf. 2007. Effect of aging and obesity on the expression of dyslipidaemia in children from families with familial combined hyperlipidaemia. Clin. Sci. (Lond.). 112: 131-139. (Pubitemid 46120092)
    • (2007) Clinical Science , vol.112 , Issue.1-2 , pp. 131-139
    • Ter, A.E.1    Sniderman, A.D.2    Bredie, S.J.H.3    Wiegman, A.4    Stalenhoef, A.F.H.5    De Graaf, J.6
  • 4
    • 35248839502 scopus 로고    scopus 로고
    • Pioglitazone added to conventional lipid-lowering treatment in familial combined hyperlipidaemia improves parameters of metabolic control: Relation to liver, muscle and regional body fat content
    • DOI 10.1016/j.atherosclerosis.2007.03.043, PII S0021915007002067
    • Thomas, E. L., E. Potter, I. Tosi, J. Fitzpatrick, G. Hamilton, V. Amber, R. Hughes, C. North, P. Holvoet, M. Seed, et al. 2007. Pioglitazone added to conventional lipid-lowering treatment in familial combined hyperlipidaemia improves parameters of metabolic control: relation to liver, muscle and regional body fat content. Atherosclerosis. 195: e181-e190. (Pubitemid 47561966)
    • (2007) Atherosclerosis , vol.195 , Issue.1
    • Thomas, E.L.1    Potter, E.2    Tosi, I.3    Fitzpatrick, J.4    Hamilton, G.5    Amber, V.6    Hughes, R.7    North, C.8    Holvoet, P.9    Seed, M.10    Betteridge, D.J.11    Bell, J.D.12    Naoumova, R.P.13
  • 5
    • 53649101617 scopus 로고    scopus 로고
    • What would you do if you could sequence everything?
    • Kahvejian, A., J. Quackenbush, and J. F. Thompson. 2008. What would you do if you could sequence everything? Nat. Biotechnol. 26: 1125-1133.
    • (2008) Nat. Biotechnol. , vol.26 , pp. 1125-1133
    • Kahvejian, A.1    Quackenbush, J.2    Thompson, J.F.3
  • 6
    • 53649100100 scopus 로고    scopus 로고
    • The development and impact of 454 sequencing
    • Rothberg, J. M., and J. H. Leamon. 2008. The development and impact of 454 sequencing. Nat. Biotechnol. 26: 1117-1124.
    • (2008) Nat. Biotechnol. , vol.26 , pp. 1117-1124
    • Rothberg, J.M.1    Leamon, J.H.2
  • 7
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure, J., and H. Ji. 2008. Next-generation DNA sequencing. Nat. Biotechnol. 26: 1135-1145.
    • (2008) Nat. Biotechnol. , vol.26 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 10
    • 33847057776 scopus 로고    scopus 로고
    • Whole genome genotyping technologies on the BeadArray platform
    • DOI 10.1002/biot.200600213
    • Steemers, F. J., and K. L. Gunderson. 2007. Whole genome genotyping technologies on the BeadArray platform. Biotechnol. J. 2: 41-49. (Pubitemid 46738887)
    • (2007) Biotechnology Journal , vol.2 , Issue.1 , pp. 41-49
    • Steemers, F.J.1    Gunderson, K.L.2
  • 11
    • 51349132793 scopus 로고    scopus 로고
    • SNP technologies for drug discovery: A current review
    • Voisey, J., and C. P. Morris. 2008. SNP technologies for drug discovery: a current review. Curr. Drug Discov. Technol. 5: 230-235.
    • (2008) Curr. Drug Discov. Technol. , vol.5 , pp. 230-235
    • Voisey, J.1    Morris, C.P.2
  • 12
    • 0042074140 scopus 로고    scopus 로고
    • Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: A case-control comparison from the National Heart, Lung, and Blood Institute Family Heart study
    • DOI 10.1161/01.CIR.0000081777.17879.85
    • Hopkins, P. N., G. Heiss, R. C. Ellison, M. A. Province, J. S. Pankow, J. H. Eckfeldt, and S. C. Hunt. 2003. Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case-control comparison from the National Heart, Lung, and Blood Institute Family Heart Study. Circulation. 108: 519-523. (Pubitemid 36961163)
    • (2003) Circulation , vol.108 , Issue.5 , pp. 519-523
    • Hopkins, P.N.1    Heiss, G.2    Ellison, R.C.3    Province, M.A.4    Pankow, J.S.5    Eckfeldt, J.H.6    Hunt, S.C.7
  • 14
    • 38149044094 scopus 로고    scopus 로고
    • Practical guidelines for familial combined hyperlipidemia diagnosis: An up-date
    • Gaddi, A., A. F. Cicero, F. O. Odoo, A. A. Poli, and R. Paoletti. 2007. Practical guidelines for familial combined hyperlipidemia diagnosis: an up-date. Vasc. Health Risk Manag. 3: 877-886.
    • (2007) Vasc. Health Risk Manag. , vol.3 , pp. 877-886
    • Gaddi, A.1    Cicero, A.F.2    Odoo, F.O.3    Poli, A.A.4    Paoletti, R.5
  • 15
    • 1842612038 scopus 로고    scopus 로고
    • Genetics of familial combined hyperlipidemia and risk of coronary heart disease
    • Complex Diseases
    • Shoulders, C. C., E. L. Jones, and R. P. Naoumova. 2004. Genetics of familial combined hyperlipidemia and risk of coronary heart disease. Hum Mol Genet 13 Spec No 1: R149-160. (Pubitemid 38443809)
    • (2004) Human Molecular Genetics , vol.13 , Issue.REV. ISS. 1
    • Shoulders, C.C.1    Jones, E.L.2    Naoumova, R.P.3
  • 16
    • 20444487316 scopus 로고    scopus 로고
    • Can familial combined hyperlipidemia diagnostic criteria be improved by the use of nomogram?
    • DOI 10.1038/ncpcardio0037
    • Thomas, R. J. 2004. Can familial combined hyperlipidemia diagnostic criteria be improved by the use of a nomogram? Nat. Clin. Pract. Cardiovasc. Med. 1: 78-79. (Pubitemid 40823701)
    • (2004) Nature Clinical Practice Cardiovascular Medicine , vol.1 , Issue.2 , pp. 78-79
    • Thomas, R.J.1
  • 18
    • 42449092001 scopus 로고    scopus 로고
    • Biochemical and structural characterization of apolipoprotein A-I binding protein, a novel phosphoprotein with a potential role in sperm capacitation
    • DOI 10.1210/en.2007-0582
    • Jha, K. N., I. A. Shumilin, L. C. Digilio, O. Chertihin, H. Zheng, G. Schmitz, P. E. Visconti, C. J. Flickinger, W. Minor, and J. C. Herr. 2008. Biochemical and structural characterization of apolipoprotein A-I binding protein, a novel phosphoprotein with a potential role in sperm capacitation. Endocrinology. 149: 2108-2120. (Pubitemid 351574530)
    • (2008) Endocrinology , vol.149 , Issue.5 , pp. 2108-2120
    • Jha, K.N.1    Shumilin, I.A.2    Digilio, L.C.3    Chertihin, O.4    Zheng, H.5    Schmitz, G.6    Visconti, P.E.7    Flickinger, C.J.8    Minor, W.9    Herr, J.C.10
  • 19
    • 35548983852 scopus 로고    scopus 로고
    • Lipoproteins and their receptors in embryonic development: More than cholesterol clearance
    • DOI 10.1242/dev.004408
    • Willnow, T. E., A. Hammes, and S. Eaton. 2007. Lipoproteins and their receptors in embryonic development: more than cholesterol clearance. Development. 134: 3239-3249. (Pubitemid 350018425)
    • (2007) Development , vol.134 , Issue.18 , pp. 3239-3249
    • Willnow, T.E.1    Hammes, A.2    Eaton, S.3
  • 20
    • 50949123700 scopus 로고    scopus 로고
    • Where does fetal and embryonic cholesterol originate and what does it do?
    • Woollett, L. A. 2008. Where does fetal and embryonic cholesterol originate and what does it do? Annu. Rev. Nutr. 28: 97-114.
    • (2008) Annu. Rev. Nutr. , vol.28 , pp. 97-114
    • Woollett, L.A.1
  • 21
    • 38449099944 scopus 로고    scopus 로고
    • Role of the cholesterol biosynthetic pathway in osteoblastic differentiation
    • Viccica, G., E. Vignali, and C. Marcocci. 2007. Role of the cholesterol biosynthetic pathway in osteoblastic differentiation. J. Endocrinol. Invest. 30: 8-12.
    • (2007) J. Endocrinol. Invest. , vol.30 , pp. 8-12
    • Viccica, G.1    Vignali, E.2    Marcocci, C.3
  • 22
    • 47949094965 scopus 로고    scopus 로고
    • Integration of metabolism and inflammation by lipid-activated nuclear receptors
    • Bensinger, S. J., and P. Tontonoz. 2008. Integration of metabolism and inflammation by lipid-activated nuclear receptors. Nature. 454: 470-477.
    • (2008) Nature , vol.454 , pp. 470-477
    • Bensinger, S.J.1    Tontonoz, P.2
  • 23
    • 0004053611 scopus 로고    scopus 로고
    • 3rd ed. John Wiley & Sons, New York
    • Voet, D., and J. G. Voet. 2004. Biochemistry. 3rd ed. John Wiley & Sons, New York. 183-185.
    • (2004) Biochemistry , pp. 183-185
    • Voet, D.1    Voet, J.G.2
  • 28
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
    • DOI 10.1086/513473
    • Kryukov, G. V., L. A. Pennacchio, and S. R. Sunyaev. 2007. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am. J. Hum. Genet. 80: 727-739. (Pubitemid 46564409)
    • (2007) American Journal of Human Genetics , vol.80 , Issue.4 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 31
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • DOI 10.1126/science.1099870
    • Cohen, J. C., R. S. Kiss, A. Pertsemlidis, Y. L. Marcel, R. McPherson, and H. H. Hobbs. 2004. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science. 305: 869-872. (Pubitemid 39038422)
    • (2004) Science , vol.305 , Issue.5685 , pp. 869-872
    • Cohen, J.C.1    Kiss, R.S.2    Pertsemlidis, A.3    Marcel, Y.L.4    McPherson, R.5    Hobbs, H.H.6
  • 32
    • 54349112435 scopus 로고    scopus 로고
    • Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting
    • Civeira, F., E. Jarauta, A. Cenarro, A. L. Garcia-Otin, D. Tejedor, D. Zambon, M. Mallen, E. Ros, and M. Pocovi. 2008. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. J. Am. Coll. Cardiol. 52: 1546-1553.
    • (2008) J. Am. Coll. Cardiol. , vol.52 , pp. 1546-1553
    • Civeira, F.1    Jarauta, E.2    Cenarro, A.3    Garcia-Otin, A.L.4    Tejedor, D.5    Zambon, D.6    Mallen, M.7    Ros, E.8    Pocovi, M.9
  • 33
    • 53149141807 scopus 로고    scopus 로고
    • Clinical significance of apolipoprotein A5
    • Tai, E. S., and J. M. Ordovas. 2008. Clinical significance of apolipoprotein A5. Curr. Opin. Lipidol. 19: 349-354.
    • (2008) Curr. Opin. Lipidol. , vol.19 , pp. 349-354
    • Tai, E.S.1    Ordovas, J.M.2
  • 34
    • 43149083460 scopus 로고    scopus 로고
    • Apoprotein A-V: An important regulator of triglyceride metabolism
    • Epub ahead of print. April 14
    • Kluger, M., J. Heeren, and M. Merkel. Apoprotein A-V: an important regulator of triglyceride metabolism. J. Inherit. Metab. Dis. Epub ahead of print. April 14, 2008.
    • (2008) J. Inherit. Metab. Dis.
    • Kluger, M.1    Heeren, J.2    Merkel, M.3
  • 35
    • 34248343423 scopus 로고    scopus 로고
    • Characterization of apolipoprotein A-V structure and mode of plasma triacylglycerol regulation
    • DOI 10.1097/MOL.0b013e328133856c, PII 0004143320070600000015
    • Wong, K., and R. O. Ryan. 2007. Characterization of apolipoprotein A-V structure and mode of plasma triacylglycerol regulation. Curr. Opin. Lipidol. 18: 319-324. (Pubitemid 46743057)
    • (2007) Current Opinion in Lipidology , vol.18 , Issue.3 , pp. 319-324
    • Wong, K.1    Ryan, R.O.2
  • 37
    • 0141955276 scopus 로고    scopus 로고
    • Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: A systematic meta-analysis
    • DOI 10.1007/s00439-003-0988-3
    • Boekholdt, S. M., R. J. Peters, K. Fountoulaki, J. J. Kastelein, and E. J. Sijbrands. 2003. Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis. Hum. Genet. 113: 417-425. (Pubitemid 37254246)
    • (2003) Human Genetics , vol.113 , Issue.5 , pp. 417-425
    • Boekholdt, S.M.1    Peters, R.J.G.2    Fountoulaki, K.3    Kastelein, J.J.P.4    Sijbrands, E.J.G.5
  • 40
    • 18944392912 scopus 로고    scopus 로고
    • A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis
    • DOI 10.1016/j.jacc.2005.01.051, PII S0735109705005176
    • Chen, S. N., C. M. Ballantyne, A. M. Gotto, Jr., Y. Tan, J. T. Willerson, and A. J. Marian. 2005. A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis. J. Am. Coll. Cardiol. 45: 1611-1619. (Pubitemid 40704495)
    • (2005) Journal of the American College of Cardiology , vol.45 , Issue.10 , pp. 1611-1619
    • Chen, S.N.1    Ballantyne, C.M.2    Gotto Jr., A.M.3    Tan, Y.4    Willerson, J.T.5    Marian, A.J.6
  • 41
    • 52949129447 scopus 로고    scopus 로고
    • A robust statistical method for case-control association testing with copy number variation
    • Barnes, C., V. Plagnol, T. Fitzgerald, R. Redon, J. Marchini, D. Clayton, and M. E. Hurles. 2008. A robust statistical method for case-control association testing with copy number variation. Nat. Genet. 40: 1245-1252.
    • (2008) Nat. Genet. , vol.40 , pp. 1245-1252
    • Barnes, C.1    Plagnol, V.2    Fitzgerald, T.3    Redon, R.4    Marchini, J.5    Clayton, D.6    Hurles, M.E.7
  • 43
    • 58149328823 scopus 로고    scopus 로고
    • Extending genome-wide association studies to copy-number variation
    • McCarroll, S. A. 2008. Extending genome-wide association studies to copy-number variation. Hum. Mol. Genet. 17: R135-R142.
    • (2008) Hum. Mol. Genet. , vol.17
    • McCarroll, S.A.1
  • 48
    • 23244439806 scopus 로고    scopus 로고
    • Complex trait locus linkage mapping in atherosclerosis: Time to take a step back before moving forward?
    • DOI 10.1161/01.ATV.0000173307.25652.89
    • Pollex, R. L., and R. A. Hegele. 2005. Complex trait locus linkage mapping in atherosclerosis: time to take a step back before moving forward? Arterioscler. Thromb. Vasc. Biol. 25: 1541-1544. (Pubitemid 41098919)
    • (2005) Arteriosclerosis, Thrombosis, and Vascular Biology , vol.25 , Issue.8 , pp. 1541-1544
    • Pollex, R.L.1    Hegele, R.A.2
  • 50
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander, E., and L. Kruglyak. 1995. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11: 241-247.
    • (1995) Nat. Genet. , vol.11 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2


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