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Volumn 93, Issue 6, 2013, Pages 1035-1045

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SLC25A40 PROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

EID: 84890308141     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.019     Document Type: Article
Times cited : (37)

References (67)
  • 1
    • 0037126526 scopus 로고    scopus 로고
    • Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report
    • National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III)
    • National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report Circulation 106 2002 3143 3421
    • (2002) Circulation , vol.106 , pp. 3143-3421
  • 2
    • 0029838433 scopus 로고    scopus 로고
    • Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: A meta-analysis of population-based prospective studies
    • J.E. Hokanson, and M.A. Austin Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: A meta-analysis of population-based prospective studies J. Cardiovasc. Risk 3 1996 213 219
    • (1996) J. Cardiovasc. Risk , vol.3 , pp. 213-219
    • Hokanson, J.E.1    Austin, M.A.2
  • 3
    • 7544226531 scopus 로고    scopus 로고
    • Serum triglycerides as a risk factor for cardiovascular diseases in the Asia-Pacific region
    • Asia Pacific Cohort Studies Collaboration
    • A. Patel, F. Barzi, K. Jamrozik, T.H. Lam, H. Ueshima, G. Whitlock, M. Woodward Asia Pacific Cohort Studies Collaboration Serum triglycerides as a risk factor for cardiovascular diseases in the Asia-Pacific region Circulation 110 2004 2678 2686
    • (2004) Circulation , vol.110 , pp. 2678-2686
    • Patel, A.1    Barzi, F.2    Jamrozik, K.3    Lam, T.H.4    Ueshima, H.5    Whitlock, G.6    Woodward, M.7
  • 5
    • 38949171001 scopus 로고    scopus 로고
    • Impact of triglyceride levels beyond low-density lipoprotein cholesterol after acute coronary syndrome in the PROVE IT-TIMI 22 trial
    • PROVE IT-TIMI 22 Investigators
    • M. Miller, C.P. Cannon, S.A. Murphy, J. Qin, K.K. Ray, E. Braunwald PROVE IT-TIMI 22 Investigators Impact of triglyceride levels beyond low-density lipoprotein cholesterol after acute coronary syndrome in the PROVE IT-TIMI 22 trial J. Am. Coll. Cardiol. 51 2008 724 730
    • (2008) J. Am. Coll. Cardiol. , vol.51 , pp. 724-730
    • Miller, M.1    Cannon, C.P.2    Murphy, S.A.3    Qin, J.4    Ray, K.K.5    Braunwald, E.6
  • 6
    • 84857693224 scopus 로고    scopus 로고
    • Triglycerides: How much credit do they deserve?
    • P. Kohli, and C.P. Cannon Triglycerides: how much credit do they deserve? Med. Clin. North Am. 96 2012 39 55
    • (2012) Med. Clin. North Am. , vol.96 , pp. 39-55
    • Kohli, P.1    Cannon, C.P.2
  • 7
    • 85027956925 scopus 로고    scopus 로고
    • Triglycerides and cardiovascular disease: A scientific statement from the American Heart Association
    • American Heart Association Clinical Lipidology, Thrombosis, and Prevention Committee of the Council on Nutrition, Physical Activity, and Metabolism Council on Arteriosclerosis, Thrombosis and Vascular Biology Council on Cardiovascular Nursing Council on the Kidney in Cardiovascular Disease
    • M. Miller, N.J. Stone, C. Ballantyne, V. Bittner, M.H. Criqui, H.N. Ginsberg, A.C. Goldberg, W.J. Howard, M.S. Jacobson, P.M. Kris-Etherton American Heart Association Clinical Lipidology, Thrombosis, and Prevention Committee of the Council on Nutrition, Physical Activity, and Metabolism Council on Arteriosclerosis, Thrombosis and Vascular Biology Council on Cardiovascular Nursing Council on the Kidney in Cardiovascular Disease Triglycerides and cardiovascular disease: A scientific statement from the American Heart Association Circulation 123 2011 2292 2333
    • (2011) Circulation , vol.123 , pp. 2292-2333
    • Miller, M.1    Stone, N.J.2    Ballantyne, C.3    Bittner, V.4    Criqui, M.H.5    Ginsberg, H.N.6    Goldberg, A.C.7    Howard, W.J.8    Jacobson, M.S.9    Kris-Etherton, P.M.10
  • 10
    • 77951875017 scopus 로고    scopus 로고
    • Triglyceride-mediated pathways and coronary disease: Collaborative analysis of 101 studies
    • Triglyceride Coronary Disease Genetics Consortium and Emerging Risk Factors Collaboration
    • N. Sarwar, M.S. Sandhu, S.L. Ricketts, A.S. Butterworth, E. Di Angelantonio, S.M. Boekholdt, W. Ouwehand, H. Watkins, N.J. Samani, D. Saleheen Triglyceride Coronary Disease Genetics Consortium and Emerging Risk Factors Collaboration Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies Lancet 375 2010 1634 1639
    • (2010) Lancet , vol.375 , pp. 1634-1639
    • Sarwar, N.1    Sandhu, M.S.2    Ricketts, S.L.3    Butterworth, A.S.4    Di Angelantonio, E.5    Boekholdt, S.M.6    Ouwehand, W.7    Watkins, H.8    Samani, N.J.9    Saleheen, D.10
  • 11
    • 79960700766 scopus 로고    scopus 로고
    • Efficacy of fibrates for cardiovascular risk reduction in persons with atherogenic dyslipidemia: A meta-analysis
    • M. Lee, J.L. Saver, A. Towfighi, J. Chow, and B. Ovbiagele Efficacy of fibrates for cardiovascular risk reduction in persons with atherogenic dyslipidemia: A meta-analysis Atherosclerosis 217 2011 492 498
    • (2011) Atherosclerosis , vol.217 , pp. 492-498
    • Lee, M.1    Saver, J.L.2    Towfighi, A.3    Chow, J.4    Ovbiagele, B.5
  • 12
    • 79951552544 scopus 로고    scopus 로고
    • Fibrates effect on cardiovascular risk is greater in patients with high triglyceride levels or atherogenic dyslipidemia profile: A systematic review and meta-analysis
    • E. Bruckert, J. Labreuche, D. Deplanque, P.J. Touboul, and P. Amarenco Fibrates effect on cardiovascular risk is greater in patients with high triglyceride levels or atherogenic dyslipidemia profile: A systematic review and meta-analysis J. Cardiovasc. Pharmacol. 57 2011 267 272
    • (2011) J. Cardiovasc. Pharmacol. , vol.57 , pp. 267-272
    • Bruckert, E.1    Labreuche, J.2    Deplanque, D.3    Touboul, P.J.4    Amarenco, P.5
  • 23
    • 0025030698 scopus 로고
    • Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice
    • Y. Ito, N. Azrolan, A. O'Connell, A. Walsh, and J.L. Breslow Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice Science 249 1990 790 793
    • (1990) Science , vol.249 , pp. 790-793
    • Ito, Y.1    Azrolan, N.2    O'connell, A.3    Walsh, A.4    Breslow, J.L.5
  • 25
    • 0027989828 scopus 로고
    • Targeted disruption of the apolipoprotein C-III gene in mice results in hypotriglyceridemia and protection from postprandial hypertriglyceridemia
    • N. Maeda, H. Li, D. Lee, P. Oliver, S.H. Quarfordt, and J. Osada Targeted disruption of the apolipoprotein C-III gene in mice results in hypotriglyceridemia and protection from postprandial hypertriglyceridemia J. Biol. Chem. 269 1994 23610 23616
    • (1994) J. Biol. Chem. , vol.269 , pp. 23610-23616
    • Maeda, N.1    Li, H.2    Lee, D.3    Oliver, P.4    Quarfordt, S.H.5    Osada, J.6
  • 26
    • 0034898391 scopus 로고    scopus 로고
    • Association of the Sst-I polymorphism at the APOC3 gene locus with variations in lipid levels, lipoprotein subclass profiles and coronary heart disease risk: The Framingham offspring study
    • G.T. Russo, J.B. Meigs, L.A. Cupples, S. Demissie, J.D. Otvos, P.W. Wilson, C. Lahoz, D. Cucinotta, P. Couture, and T. Mallory Association of the Sst-I polymorphism at the APOC3 gene locus with variations in lipid levels, lipoprotein subclass profiles and coronary heart disease risk: The Framingham offspring study Atherosclerosis 158 2001 173 181
    • (2001) Atherosclerosis , vol.158 , pp. 173-181
    • Russo, G.T.1    Meigs, J.B.2    Cupples, L.A.3    Demissie, S.4    Otvos, J.D.5    Wilson, P.W.6    Lahoz, C.7    Cucinotta, D.8    Couture, P.9    Mallory, T.10
  • 29
    • 8144225907 scopus 로고    scopus 로고
    • A single nucleotide polymorphism -1131T>C in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and alters triglyceride metabolism in Chinese
    • N. Bi, S.K. Yan, G.P. Li, Z.N. Yin, and B.S. Chen A single nucleotide polymorphism -1131T>C in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and alters triglyceride metabolism in Chinese Mol. Genet. Metab. 83 2004 280 286
    • (2004) Mol. Genet. Metab. , vol.83 , pp. 280-286
    • Bi, N.1    Yan, S.K.2    Li, G.P.3    Yin, Z.N.4    Chen, B.S.5
  • 30
    • 28444457032 scopus 로고    scopus 로고
    • Impact of APOA5/A4/C3 genetic polymorphisms on lipid variables and cardiovascular disease risk in French men
    • J. Dallongeville, D. Cottel, M. Montaye, V. Codron, P. Amouyel, and N. Helbecque Impact of APOA5/A4/C3 genetic polymorphisms on lipid variables and cardiovascular disease risk in French men Int. J. Cardiol. 106 2006 152 156
    • (2006) Int. J. Cardiol. , vol.106 , pp. 152-156
    • Dallongeville, J.1    Cottel, D.2    Montaye, M.3    Codron, V.4    Amouyel, P.5    Helbecque, N.6
  • 31
    • 84866730927 scopus 로고    scopus 로고
    • The role of large pedigrees in an era of high-throughput sequencing
    • E.M. Wijsman The role of large pedigrees in an era of high-throughput sequencing Hum. Genet. 131 2012 1555 1563
    • (2012) Hum. Genet. , vol.131 , pp. 1555-1563
    • Wijsman, E.M.1
  • 32
    • 0028172750 scopus 로고
    • Genetic predictors of FCHL in four large pedigrees. Influence of ApoB level major locus predicted genotype and LDL subclass phenotype
    • G.P. Jarvik, J.D. Brunzell, M.A. Austin, R.M. Krauss, A.G. Motulsky, and E. Wijsman Genetic predictors of FCHL in four large pedigrees. Influence of ApoB level major locus predicted genotype and LDL subclass phenotype Arterioscler. Thromb. 14 1994 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
  • 33
    • 0015796295 scopus 로고
    • Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia
    • J.L. Goldstein, H.G. Schrott, W.R. Hazzard, E.L. Bierman, and A.G. Motulsky Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia J. Clin. Invest. 52 1973 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
  • 34
    • 0009040551 scopus 로고
    • Genetic heterogeneity in familial hypercholesterolemia: Evidence for two different mutations affecting functions of low-density lipoprotein receptor
    • J.L. Goldstein, S.E. Dana, G.Y. Brunschede, and M.S. Brown Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor Proc. Natl. Acad. Sci. USA 72 1975 1092 1096
    • (1975) Proc. Natl. Acad. Sci. USA , vol.72 , pp. 1092-1096
    • Goldstein, J.L.1    Dana, S.E.2    Brunschede, G.Y.3    Brown, M.S.4
  • 35
    • 0034507636 scopus 로고    scopus 로고
    • Genetics of lipoprotein abnormalities associated with coronary artery disease susceptibility
    • J.L. Breslow Genetics of lipoprotein abnormalities associated with coronary artery disease susceptibility Annu. Rev. Genet. 34 2000 233 254
    • (2000) Annu. Rev. Genet. , vol.34 , pp. 233-254
    • Breslow, J.L.1
  • 36
    • 63849198178 scopus 로고    scopus 로고
    • Hypertriglyceridemia and its pharmacologic treatment among US adults
    • E.S. Ford, C. Li, G. Zhao, W.S. Pearson, and A.H. Mokdad Hypertriglyceridemia and its pharmacologic treatment among US adults Arch. Intern. Med. 169 2009 572 578
    • (2009) Arch. Intern. Med. , vol.169 , pp. 572-578
    • Ford, E.S.1    Li, C.2    Zhao, G.3    Pearson, W.S.4    Mokdad, A.H.5
  • 39
    • 0022556123 scopus 로고
    • Enzymatic methods for quantification of lipoprotein lipids
    • G.R. Warnick Enzymatic methods for quantification of lipoprotein lipids Methods Enzymol. 129 1986 101 123
    • (1986) Methods Enzymol. , vol.129 , pp. 101-123
    • Warnick, G.R.1
  • 40
    • 0003544885 scopus 로고
    • US Dept of Health and Human Services National Institutes of Health Washington, DC
    • US Dept of Health and Human Services The Lipid Research Clinics' Population Studies Data Book Volume 1 1980 National Institutes of Health Washington, DC
    • (1980) The Lipid Research Clinics' Population Studies Data Book , vol.1 VOLUME
  • 42
    • 77953381261 scopus 로고    scopus 로고
    • Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families
    • E.M. Wijsman, J.H. Rothstein, R.P. Igo Jr., J.D. Brunzell, A.G. Motulsky, and G.P. Jarvik Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families Hum. Genet. 127 2010 705 719
    • (2010) Hum. Genet. , vol.127 , pp. 705-719
    • Wijsman, E.M.1    Rothstein, J.H.2    Igo, Jr.R.P.3    Brunzell, J.D.4    Motulsky, A.G.5    Jarvik, G.P.6
  • 45
    • 0036594903 scopus 로고    scopus 로고
    • New generation pharmacogenomic tools: A SNP linkage disequilibrium Map, validated SNP assay resource, and high-throughput instrumentation system for large-scale genetic studies
    • 52, 54
    • F.M. De La Vega, D. Dailey, J. Ziegle, J. Williams, D. Madden, and D.A. Gilbert New generation pharmacogenomic tools: A SNP linkage disequilibrium Map, validated SNP assay resource, and high-throughput instrumentation system for large-scale genetic studies Biotechniques Suppl 2002 48 50 52, 54
    • (2002) Biotechniques , Issue.SUPPL. , pp. 48-50
    • De La Vega, F.M.1    Dailey, D.2    Ziegle, J.3    Williams, J.4    Madden, D.5    Gilbert, D.A.6
  • 46
    • 58149299721 scopus 로고    scopus 로고
    • Medium- to high-throughput SNP genotyping using VeraCode microbeads
    • C.H. Lin, J.M. Yeakley, T.K. McDaniel, and R. Shen Medium- to high-throughput SNP genotyping using VeraCode microbeads Methods Mol. Biol. 496 2009 129 142
    • (2009) Methods Mol. Biol. , vol.496 , pp. 129-142
    • Lin, C.H.1    Yeakley, J.M.2    Mcdaniel, T.K.3    Shen, R.4
  • 47
    • 0030833349 scopus 로고    scopus 로고
    • Markov chain Monte Carlo segregation and linkage analysis for oligogenic models
    • S.C. Heath Markov chain Monte Carlo segregation and linkage analysis for oligogenic models Am. J. Hum. Genet. 61 1997 748 760
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 748-760
    • Heath, S.C.1
  • 48
    • 24144469193 scopus 로고    scopus 로고
    • Genome scan for quantitative trait loci influencing HDL levels: Evidence for multilocus inheritance in familial combined hyperlipidemia
    • F. Gagnon, G.P. Jarvik, M.D. Badzioch, A.G. Motulsky, J.D. Brunzell, and E.M. Wijsman Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia Hum. Genet. 117 2005 494 505
    • (2005) Hum. Genet. , vol.117 , pp. 494-505
    • Gagnon, F.1    Jarvik, G.P.2    Badzioch, M.D.3    Motulsky, A.G.4    Brunzell, J.D.5    Wijsman, E.M.6
  • 51
    • 0242690899 scopus 로고    scopus 로고
    • Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment
    • F. Gagnon, G.P. Jarvik, A.G. Motulsky, S.S. Deeb, J.D. Brunzell, and E.M. Wijsman Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment Hum. Genet. 113 2003 522 533
    • (2003) Hum. Genet. , vol.113 , pp. 522-533
    • Gagnon, F.1    Jarvik, G.P.2    Motulsky, A.G.3    Deeb, S.S.4    Brunzell, J.D.5    Wijsman, E.M.6
  • 56
    • 22244452677 scopus 로고    scopus 로고
    • Distribution and intensity of constraint in mammalian genomic sequence
    • NISC Comparative Sequencing Program
    • G.M. Cooper, E.A. Stone, G. Asimenos, E.D. Green, S. Batzoglou, A. Sidow NISC Comparative Sequencing Program Distribution and intensity of constraint in mammalian genomic sequence Genome Res. 15 2005 901 913
    • (2005) Genome Res. , vol.15 , pp. 901-913
    • Cooper, G.M.1    Stone, E.A.2    Asimenos, G.3    Green, E.D.4    Batzoglou, S.5    Sidow, A.6
  • 57
    • 0031966959 scopus 로고    scopus 로고
    • Multipoint quantitative-trait linkage analysis in general pedigrees
    • L. Almasy, and J. Blangero Multipoint quantitative-trait linkage analysis in general pedigrees Am. J. Hum. Genet. 62 1998 1198 1211
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1198-1211
    • Almasy, L.1    Blangero, J.2
  • 59
    • 78651237647 scopus 로고    scopus 로고
    • Identifying a high fraction of the human genome to be under selective constraint using GERP++
    • E.V. Davydov, D.L. Goode, M. Sirota, G.M. Cooper, A. Sidow, and S. Batzoglou Identifying a high fraction of the human genome to be under selective constraint using GERP++ PLoS Comput. Biol. 6 2010 e1001025
    • (2010) PLoS Comput. Biol. , vol.6 , pp. 1001025
    • Davydov, E.V.1    Goode, D.L.2    Sirota, M.3    Cooper, G.M.4    Sidow, A.5    Batzoglou, S.6
  • 62
    • 3042855210 scopus 로고    scopus 로고
    • UniGene: A unified view of the transcriptome
    • J. McEntyre, J. Ostell, National Center for Biotechnology Information Bethesda, MD
    • J.U. Pontius, L. Wagner, and G.D. Schuler UniGene: A unified view of the transcriptome J. McEntyre, J. Ostell, The NCBI Handbook 2003 National Center for Biotechnology Information Bethesda, MD
    • (2003) The NCBI Handbook
    • Pontius, J.U.1    Wagner, L.2    Schuler, G.D.3
  • 64
    • 0016197604 scopus 로고
    • Amino acid difference formula to help explain protein evolution
    • R. Grantham Amino acid difference formula to help explain protein evolution Science 185 1974 862 864
    • (1974) Science , vol.185 , pp. 862-864
    • Grantham, R.1
  • 65
    • 0020024242 scopus 로고
    • Specific intermediates in the folding reactions of small proteins and the mechanism of protein folding
    • P.S. Kim, and R.L. Baldwin Specific intermediates in the folding reactions of small proteins and the mechanism of protein folding Annu. Rev. Biochem. 51 1982 459 489
    • (1982) Annu. Rev. Biochem. , vol.51 , pp. 459-489
    • Kim, P.S.1    Baldwin, R.L.2
  • 66
    • 0025763419 scopus 로고
    • Max: A helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc
    • E.M. Blackwood, and R.N. Eisenman Max: A helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc Science 251 1991 1211 1217
    • (1991) Science , vol.251 , pp. 1211-1217
    • Blackwood, E.M.1    Eisenman, R.N.2
  • 67
    • 0026737875 scopus 로고
    • Myc and Max proteins possess distinct transcriptional activities
    • L. Kretzner, E.M. Blackwood, and R.N. Eisenman Myc and Max proteins possess distinct transcriptional activities Nature 359 1992 426 429
    • (1992) Nature , vol.359 , pp. 426-429
    • Kretzner, L.1    Blackwood, E.M.2    Eisenman, R.N.3


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