Influence of the APOA5 locus on plasma triglyceride, lipoprotein subclasses, and CVD risk in the Framingham Heart Study

Journal of Lipid Research - Tập 45 - Trang 2096-2105 - 2004
Chao-Qiang Lai1, Serkalem Demissie2, L. Adrienne Cupples2, Yueping Zhu1, Xian Adiconis1, Laurence D. Parnell1, Dolores Corella1,3, Jose M. Ordovas1
1Nutrition and Genomics’ Laboratory, Jean Mayer United States Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, MA
2School of Public Health and School of Medicine, Boston University, Boston, MA
3Genetic and Molecular Epidemiology Unit, University of Valencia, Valencia, Spain

Tài liệu tham khảo

Krauss, 1998, Triglycerides and atherogenic lipoproteins: rationale for lipid management, Am. J. Med., 105, 58, 10.1016/S0002-9343(98)00213-7 Forrester, 2000, Triglycerides: risk factors or fellow traveler?, Curr. Opin. Cardiol., 16, 261, 10.1097/00001573-200107000-00007 Malloy, 2001, A risk factor for atherosclerosis: triglyceride-rich lipoproteins, Adv. Intern. Med., 47, 111 Preiss-Landl, 2002, Lipoprotein lipase: the regulation of tissue specific expression and its role in lipid and energy metabolism, Curr. Opin. Lipidol., 13, 471, 10.1097/00041433-200210000-00002 Pennacchio, 2001, An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing, Science., 294, 169, 10.1126/science.1064852 van der Vliet, 2001, Apolipoprotein A-V: a novel apolipoprotein associated with an early phase of liver regeneration, J. Biol. Chem., 276, 44512, 10.1074/jbc.M106888200 Fruchart-Najib, 2004, Mechanism of triglyceride lowering in mice expressing human apolipoprotein A5, Biochem. Biophys. Res. Commun., 319, 397, 10.1016/j.bbrc.2004.05.003 Schaap, 2004, ApoAV reduces plasma triglycerides by inhibiting very low density lipoprotein-triglyceride (VLDL-TG) production and stimulating lipoprotein lipase-mediated VLDL-TG hydrolysis, J. Biol. Chem., 279, 27941, 10.1074/jbc.M403240200 Vu-Dac, 2003, Apolipoprotein A5, a crucial determinant of plasma triglyceride levels, is highly responsive to peroxisome proliferator-activated receptor α activators, J. Biol. Chem., 278, 17982, 10.1074/jbc.M212191200 Baroukh, 2004, Analysis of apolipoprotein A5, c3, and plasma triglyceride concentrations in genetically engineered mice, Arterioscler. Thromb. Vasc. Biol., 24, 1297, 10.1161/01.ATV.0000130463.68272.1d Pennacchio, 2002, Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels, Hum. Mol. Genet., 11, 3031, 10.1093/hmg/11.24.3031 Talmud, 2002, Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides, Hum. Mol. Genet., 11, 3039, 10.1093/hmg/11.24.3039 Nabika, 2002, The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese, Atherosclerosis., 165, 201, 10.1016/S0021-9150(02)00252-6 Endo, 2002, Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren, Hum. Genet., 111, 570, 10.1007/s00439-002-0825-0 Aouizerat, 2003, Genetic analysis of a polymorphism in the human apoA-V gene: effect on plasma lipids, J. Lipid Res., 44, 1167, 10.1194/jlr.M200480-JLR200 Lai, 2003, The apolipoprotein A5 locus is a strong determinant of plasma triglyceride concentrations across ethnic groups in Singapore, J. Lipid Res., 44, 2365, 10.1194/jlr.M300251-JLR200 Zilversmit, 1979, Atherogenesis: a postprandial phenomenon, Circulation., 60, 473, 10.1161/01.CIR.60.3.473 Karpe, 1999, Postprandial lipoprotein metabolism and atherosclerosis, J. Intern. Med., 246, 341, 10.1046/j.1365-2796.1999.00548.x Fielding, 1996, Postprandial lipemia: the origin of an early peak studied by specific dietary fatty acid intake during sequential meals, Am. J. Clin. Nutr., 63, 36, 10.1093/ajcn/63.1.36 Tso, 1984, Evidence for separate pathways of chylomicron and very low density assembly and transport by rat small intestine, Am. J. Physiol., 247, G559 Semb, 1986, Nutritional regulation of lipoprotein lipase in guinea pig tissue, Biochim. Biophys. Acta., 876, 249, 10.1016/0005-2760(86)90281-X Ong, 1989, Effect of feeding and obesity on lipoprotein lipase activity, immunoreactive protein, and messenger RNA levels in human adipose tissue, J. Clin. Invest., 84, 305, 10.1172/JCI114155 Nakajima, 1993, Cholesterol in remnant-like lipoproteins in human serum using monoclonal anti apoB-100 and apoA-I immunoaffinity mixed gels, Clin. Chim. Acta., 223, 53, 10.1016/0009-8981(93)90062-9 Nakajima, 1996, Separation and determination of remnant-like particles in human serum using monoclonal antibodies to apo B and apo A-I, J. Clin. Ligand., 19, 177 Campos, 1992, Properties of an apolipoprotein E-enriched fraction of triglyceride-rich lipoproteins isolated from human blood plasma with a monoclonal antibody to apolipoprotein B-100, J. Lipid Res., 33, 369, 10.1016/S0022-2275(20)41527-5 McNamara, 1998, Remnant lipoprotein cholesterol and triglyceride reference ranges from the Framingham Heart Study, Clin. Chem., 44, 1224, 10.1093/clinchem/44.6.1224 McNamara, 2001, Remnant-like particle (RLP) cholesterol is an independent cardiovascular disease risk factor in women: results from the Framingham Heart Study, Atherosclerosis., 154, 229, 10.1016/S0021-9150(00)00484-6 Marcoux, 1998, Plasma remnant-like particle lipid apolipoprotein levels in normolipidemic and hyperlipidemic subjects, Atherosclerosis., 139, 161, 10.1016/S0021-9150(98)00042-2 Song, 2000, Remnant-like particle cholesterol levels in Korean patients with coronary artery disease and non-insulin dependent diabetes mellitus, Clin. Chem. Lab. Med., 38, 427, 10.1515/CCLM.2000.062 Masuoka, 2000, Association of remnant-like particle cholesterol with coronary artery disease in patients with normal total cholesterol levels, Am. Heart J., 139, 305, 10.1016/S0002-8703(00)90240-0 Karpe, 2001, Remnant-like lipoprotein particle cholesterol concentration and progression of coronary and vein-graft atherosclerosis in response to gemfibrozil treatment, Atherosclerosis., 157, 181, 10.1016/S0021-9150(00)00700-0 Takeichi, 2001, Plasma triglyceride-rich lipoprotein remnants as a risk factor of 'Pokkuri disease.’, Leg. Med. (Tokyo)., 3, 84, 10.1016/S1344-6223(01)00010-4 Ribalta, 2002, Newly identified apolipoprotein AV gene predisposes to high plasma triglycerides in familial combined hyperlipidemia, Clin. Chem., 48, 1597, 10.1093/clinchem/48.9.1597 Mar, 2004, Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemia, Circ. Res., 94, 993, 10.1161/01.RES.0000124922.61830.F0 Eichenbaum-Voline, 2004, Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia, Arterioscler. Thromb. Vasc. Biol., 24, 167, 10.1161/01.ATV.0000099881.83261.D4 Masana, 2003, The apolipoprotein AV gene and diurnal triglyceridaemia in normolipidaemic subjects, Clin. Chem. Lab. Med., 41, 517, 10.1515/CCLM.2003.078 Jang, 2004, The −1131T>C polymorphism in the apolipoprotein A5 (APOA5) gene is associated with postprandial hypertriacylglycerolemia, elevated small dense LDL concentrations and oxidative stress in non-obese Korean men, Am. J. Clin. Nutr., 80, 10.1093/ajcn/80.4.832 Feinleib, 1975, The Framingham Offspring Study: design and preliminary data, Prev. Med., 4, 518, 10.1016/0091-7435(75)90037-7 Cupples, 1992, Long- and short-term risk of sudden coronary death, Circulation., 85, 111 Otvos, 1992, Development of a proton nuclear magnetic resonance spectroscopic method for determining plasma lipoprotein concentrations and subspecies distributions from a single, rapid measurement, Clin. Chem., 38, 1632, 10.1093/clinchem/38.9.1632 Freedman, 1998, Relation of lipoprotein subclasses as measured by proton nuclear magnetic resonance spectroscopy to coronary artery disease, Arterioscler. Thromb. Vasc. Biol., 18, 1046, 10.1161/01.ATV.18.7.1046 Campos, 2002, Properties of triglyceride-rich and cholesterol-rich lipoproteins in the remnant-like particle fraction of human blood plasma, J. Lipid Res., 43, 365, 10.1016/S0022-2275(20)30142-5 Schaefer, 2002, Framingham Offspring Study. Elevated remnant-like particle cholesterol and triglyceride levels in diabetic men and women in the Framingham Offspring Study, Diabetes Care., 25, 989, 10.2337/diacare.25.6.989 den Dunnen, 2000, Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion, Hum Mutat., 15, 7, 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N Excoffier, 1995, Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population, Mol. Biol. Evol., 12, 921 Weir, 1996, 121 Rothman, 1990, No adjustments are needed for multiple comparisons, Epidemiology., 1, 43, 10.1097/00001648-199001000-00010 Martin, 2003, Contribution of APOA5 gene variants to plasma triglyceride determination and to the response to both fat and glucose tolerance challenges, Biochim. Biophys. Acta, 1637, 217, 10.1016/S0925-4439(03)00033-4 Prieur, 2003, The human apolipoprotein AV gene is regulated by peroxisome proliferator-activated receptor-alpha and contains a novel farnesoid X-activated receptor response element, J. Biol. Chem., 278, 25468, 10.1074/jbc.M301302200 Li, 1995, Common genetic variation in the promoter of the human apo CIII gene abolishes regulation by insulin and may contribute to hypertriglyceridemia, J. Clin. Invest., 96, 2601, 10.1172/JCI118324 Esterbauer, 1999, Allele-specific differences in apolipoprotein C-III mRNA expression in human liver, Clin. Chem., 45, 331, 10.1093/clinchem/45.3.331 Dallinga-Thie, 2001, Genetic heterogeneity in the apolipoprotein C-III promoter and effects of insulin, J. Lipid Res., 42, 1450, 10.1016/S0022-2275(20)30278-9 Cuff, 2000, Application of enhanced multiple sequence alignment profiles to improve protein secondary structure prediction, Proteins Struct. Funct. Genet., 40, 502, 10.1002/1097-0134(20000815)40:3<502::AID-PROT170>3.0.CO;2-Q McGuffin, 2000, The PSIPRED protein structure prediction server, Bioinformatics., 16, 404, 10.1093/bioinformatics/16.4.404 Rost, 1994, Combining evolutionary information and neural networks to predict protein secondary structure, Proteins., 19, 55, 10.1002/prot.340190108 Weinberg, 2003, Structure and interfacial properties of human apolipoprotein A-V, J. Biol. Chem., 278, 34438, 10.1074/jbc.M303784200 Bendtsen, 2004, Improved prediction of signal peptides: SignalP 3.0, J. Mol. Biol., 340, 783, 10.1016/j.jmb.2004.05.028 Wang, 2004, Haplotypes in the APOA1-C3-A4-A5 gene cluster affect plasma lipids in both humans and baboons, Hum. Mol. Genet., 13, 1049, 10.1093/hmg/ddh121 Fullerton, 2004, The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster, Hum. Genet., 115, 36, 10.1007/s00439-004-1106-x Olivier, 2004, Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11, Genomics., 83, 912, 10.1016/j.ygeno.2003.11.016