LPL promoter -93T/G transition influences fasting and postprandial plasma triglycerides response in African-Americans and Hispanics
Tài liệu tham khảo
Semenkovich, 1989, Insulin regulation of lipoprotein lipase activity in 3T3-L1 adipocytes is mediated at posttranscriptional and posttranslational levels, J. Biol. Chem., 264, 9030, 10.1016/S0021-9258(18)81898-1
Taskinen, 1987, Lipoprotein lipase in hypertriglyceridemias, 201
Eckel, 1987, Adipose tissue lipoprotein lipase, 79
Jeppesen, 1995, Relation between insulin resistance, hyperinsulinemia, postheparin plasma lipoprotein lipase activity, and postprandial lipemia, Arterioscler. Thromb. Vasc. Biol., 15, 320, 10.1161/01.ATV.15.3.320
Santamarina-Fojo, 1991, The familial hyperchylomicronemia syndrome—new insights into underlying genetic defects, J. Am. Med. Assoc., 265, 904, 10.1001/jama.1991.03460070086049
Hayden, 1992, Molecular genetics of human lipoprotein lipase deficiency, Mol. Cell. Biochem., 113, 171, 10.1007/BF00231536
Mailly, 1997, Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in twenty patients from the UK, Sweden and Italy, Hum. Mutat., 10, 465, 10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C
Wilson, 1990, Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation, J. Clin. Invest., 86, 735, 10.1172/JCI114770
Babirak, 1992, Familial combined hyperlipidemia and abnormal lipoprotein lipase, Arterioscler. Thromb., 12, 1176, 10.1161/01.ATV.12.10.1176
Seed, 1994, Lipoprotein lipase activity in patients with combined hyperlipidemia, Clin. Invest., 72, 100, 10.1007/BF00184584
Mailly, 1995, A common variant in the gene for lipoprotein lipase (Asp9Asn): functional implications and prevalence in normal and hyperlipidemic subjects, Arterioscler. Thromb. Vasc. Biol., 15, 468, 10.1161/01.ATV.15.4.468
Reymer, 1995, A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis, Nature Genet., 10, 28, 10.1038/ng0595-28
Fisher, 1995, Interaction of the lipoprotein lipase asparagine 291serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: a study in hyperlipidaemic subjects, myocardial infarction survivors and healthy adults, J. Lipid Res., 36, 2104, 10.1016/S0022-2275(20)39195-1
Gerdes, 1997, Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations. Studies in the fasting and postprandial states: the European Atherosclerosis Research studies, Circulation, 96, 733, 10.1161/01.CIR.96.3.733
Mailly, 1996, Association between the LPL–D9N mutation in the lipoprotein lipase gene and plasma lipid traits in myocardial infarction survivors from the ECTIM study, Atherosclerosis., 122, 21, 10.1016/0021-9150(95)05736-6
Reymer, 1995, A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia, Hum. Mol. Genet., 4, 1543, 10.1093/hmg/4.9.1543
Wittrup, 1997, A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease, J. Clin. Invest., 99, 1606, 10.1172/JCI119323
Jemaa, 1995, Lipoprotein lipase gene polymorphisms: associations with myocardial infarction and lipoprotein levels, the ECTIM study, J. Lipid Res., 36, 2141, 10.1016/S0022-2275(20)39198-7
Mattu, 1994, DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population, Arterioscler. Thromb., 14, 1090, 10.1161/01.ATV.14.7.1090
Hall, 1997, A common mutation in the lipoprotein lipase gene promoter, -93T/G, is associated with lower plasma triglyceride levels and increased promoter activity in vitro, Arterioscler. Thromb. Vasc. Biol., 17, 1969, 10.1161/01.ATV.17.10.1969
Yang, 1995, A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity, Proc. Natl. Acad. Sci. USA., 92, 4462, 10.1073/pnas.92.10.4462
Miesenbock, 1993, Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities, J. Clin. Invest., 91, 448, 10.1172/JCI116222
Pimstone, 1995, Post-prandial retinyl palmitate response supports evidence for a functional effect of the Asn291Ser mutation in the lipoprotein lipase gene, Circulation., 92, I-493
Ginsberg, 1995, Association of postprandial triglyceride and retinyl palmitate responses with newly diagnosed exercise-induced myocardial ischemia in middle-aged men and women, Arterioscler. Thromb. Vasc. Biol., 15, 1829, 10.1161/01.ATV.15.11.1829
Bieri, 1979, Simultaneous determination of α-tocopherol and retinol in plasma or red cells by high pressure liquid chromatography, Am. J. Clin. Nutr., 32, 2143, 10.1093/ajcn/32.10.2143
Miller, 1988, A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res., 16, 1215, 10.1093/nar/16.3.1215
Hixson, 1990, Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI, J. Lipid Res., 31, 545, 10.1016/S0022-2275(20)43176-1
Day, 1995, High-throughput genotyping using horizontal polyacrylamide gels with wells arranged for microplate array diagonal gel electrophoresis (MADGE), Biotechniques., 19, 830
Chakravarti, 1984, Nonuniform recombination within the human beta-globin gene cluster, Am. J. Hum. Genet., 36, 1239
Templeton, 1988, A cladistic analysis of phenotype associations with haplotypes inferred from restriction endonuclease mapping. II. The analysis of natural populations, Genetics., 120, 1145, 10.1093/genetics/120.4.1145
Zhang, 1996, Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function, Biochim. Biophys. Acta., 1302, 159, 10.1016/0005-2760(96)00059-8
Elbein, 1994, Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial non-insulin-dependent diabetes mellitus families, J. Clin. Endocrinol. Metab., 79, 1450
Zhang, 1995, Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291Ser mutation in the human LPL gene, Arterioscler. Thromb. Vasc. Biol., 15, 1695, 10.1161/01.ATV.15.10.1695
Yang, 1996, Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary heart disease, J. Lipid Res., 37, 2627, 10.1016/S0022-2275(20)37466-6
Coppack, 1992, Adipose tissue metabolism in obesity: lipase action in vivo before and after a mixed meal, Metabolism., 41, 264, 10.1016/0026-0495(92)90269-G
Karpe, 1995, Quantification of postprandial triglyceride-rich lipoproteins in healthy men by retinyl ester labeling and simultaneous measurement of apoliproproteins B-48 and B-100, Arterioscler. Thromb. Vasc. Biol., 15, 199, 10.1161/01.ATV.15.2.199
Monsalve, 1990, A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries, J. Clin. Invest., 86, 728, 10.1172/JCI114769