Gender-related association between the −93T→G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia
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Goldstein, 1973, 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, 1544, 10.1172/JCI107332
Rose, 1973, Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype, Am J Med, 54, 148, 10.1016/0002-9343(73)90218-0
Kwiterovich, 1987, Hyperapobetalipoproteinemia in a kindred with familial combined hyperlipidemia and familial hypercholesterolemia, Arteriosclerosis, 7, 211, 10.1161/01.ATV.7.3.211
Hunt, 1989, Apolipoprotein, low density lipoprotein subfraction, and insulin associations with familial combined hyperlipidemia, Arteriosclerosis, 9, 335, 10.1161/01.ATV.9.3.335
Austin, 1990, Inheritance of low density lipoprotein subclass patterns in familial combined hyperlipidemia, Arteriosclerosis, 10, 520, 10.1161/01.ATV.10.4.520
Stalenhoef, 1986, Plasma lipoproteins, apolipoproteins, and triglyceride metabolism in familial hypertriglyceridemia, Arteriosclerosis, 6, 387, 10.1161/01.ATV.6.4.387
Cullen, 1994, Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia, Arterioscler Thromb, 14, 1233, 10.1161/01.ATV.14.8.1233
Babirak, 1992, Familial combined hyperlipidemia and abnormal lipoprotein lipase, Arterioscler Thromb, 12, 1176, 10.1161/01.ATV.12.10.1176
Brunzell JD. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS editors. The Metabolic Basis of Inherited Disease, 6th ed. New York: McGraw-Hill, 1994:59–1913.
Deeb, 1989, Structure of the human lipoprotein lipase gene [published erratum appears in Biochemistry 1989 Aug 8;28(16):6786], Biochemistry, 28, 4131, 10.1021/bi00436a001
Sparkes, 1987, Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21, Genomics, 1, 138, 10.1016/0888-7543(87)90005-X
Wion, 1987, Human lipoprotein lipase complementary DNA sequence, Science, 235, 1638, 10.1126/science.3823907
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
Babirak, 1989, Detection and characterization of the heterozygote state for lipoprotein lipase deficiency, Arteriosclerosis, 9, 326, 10.1161/01.ATV.9.3.326
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
Chamberlain, 1989, DNA polymorphisms at the lipoprotein lipase gene: association in normal and hypertriglyceridamic subjects, Atherosclerosis, 79, 85, 10.1016/0021-9150(89)90037-3
Minnich, 1995, Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent, J Lipid Res, 36, 117, 10.1016/S0022-2275(20)39760-1
Fisher, 1995, Interaction of the lipoprotein lipase asparagine 291→serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: A study in hyperlipidemic subjects, myocardial infarction survivors, and healthy adults, J Lipid Res, 36, 2104, 10.1016/S0022-2275(20)39195-1
Mailly, 1995, A common variant in the gene for lipoprotein lipase (Asp9→Asn): Functional implications and prevalence in normal and hyperlipidemic subjects, Arterioscler Thromb, 15, 468, 10.1161/01.ATV.15.4.468
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
Gagne, 1994, Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia, Arterioscler Thromb, 14, 1250, 10.1161/01.ATV.14.8.1250
Nevin, 1994, The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity, Arterioscler Thromb, 14, 869, 10.1161/01.ATV.14.6.869
Ma, 1994, High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform, J Lipid Res, 35, 1066, 10.1016/S0022-2275(20)40102-6
Assmann G, Schulte H. Results and conclusions of the prospective cardivascular Munster (PROCAM) study. In: Assmann G, editor. Lipid Metabolism Disorders and Cardiovascular Disease. Munich: MMV-Medizin, 1993:19.
Demacker, 1977, Evaluation of the dual-precipitation method by comparison with the ultracentrifugation method for measurement of lipoproteins in serum, Clin Chem, 23, 1238, 10.1093/clinchem/23.7.1238
Demacker, 1980, A study of the use of polyethylene glycol in estimating cholesterol in high-density lipoprotein, Clin Chem, 26, 1775, 10.1093/clinchem/26.13.1775
Bredie, 1995, Comparison of Gemfibrozil versus simvastatin in familial combined hyperlipidemia and effect on apolipoprotein-B-containing lipoproteins, low-density lipoprotein subfractions profile, and low-density lipoprotein oxidizability, Am J Cardiol, 75, 348, 10.1016/S0002-9149(99)80552-9
Miller, 1988, A simple salting out procedure for extracting DNA from nucleated cells, Nucleic Acids Res, 16, 1215, 10.1093/nar/16.3.1215
Hoffer, 1996, The lipoprotein lipase (Asn291→Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia, Atherosclerosis, 119, 159, 10.1016/0021-9150(95)05641-6
Lange, 1988, Programs for Pedigree Analysis: MENDEL, FISHER, and dGENE [letter]., Genet Epidemiol, 5, 471, 10.1002/gepi.1370050611
Lange, 1976, Extensions to pedigree analysis. III. Variance components by the scoring method, Ann Hum Genet, 39, 485, 10.1111/j.1469-1809.1976.tb00156.x
Lohse, 1991, Familial chylomicronemia: identification of a unique patient homozygous for two seperate mutations in the LPL gene, Circulation, 84, 376
Hata, 1990, Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene, Nucleic Acids Res, 18, 5407, 10.1093/nar/18.18.5407
Stocks, 1992, Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion, J Lipid Res, 33, 853, 10.1016/S0022-2275(20)41510-X
Faustinella, 1991, Catalytic triad residue mutation (Asp1566Gly) causing familial lipoprotein lipase deficiency, J Biol Chem, 266, 14418, 10.1016/S0021-9258(18)98701-6
Groenemeijer, 1996, A genetic variant, showing a positive interaction with β-blocking agents, with a beneficial influence on lipoprotein lipase activity, HDL-cholesterol and triglyceride levels in CAD patients: the Ser447-stop substitution in the lipoprotein lipase gene, Circulation, 95, 2169
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 Welsh population, Arterioscler Thromb, 14, 1090, 10.1161/01.ATV.14.7.1090
Kuivenhoven JA, Groenemeyer BE, Boer JMA, Reymer PWA, Berghuis R, Bruin T, Jansen H, Seidell JC, Kastelein JJP. The Ser447stop mutation in lipoprotein lipase is associated with elevated HDL-cholesterol levels in normolipidemic males. Arterioscler Thromb Vasc Biol 1997 (in press).
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
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
Georges, 1996, Family study of lipoprotein lipase gene polymorphisms and plasma triglyceride levels, Genet Epidemiol, 13, 179, 10.1002/(SICI)1098-2272(1996)13:2<179::AID-GEPI4>3.0.CO;2-3
Kessling, 1991, Patterns of association between genetic variability in apolipoprotein (apo)B, apoA1-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones, Am J Hum Genet, 50, 92
Reilly, 1991, The gender-specific apolipoprotein E genotype influence on the distribution of lipids and apolipoproteins in the population of Rochester, MN. I. Pleiotropic effects on means and variances [published erratum appears in Am J Hum Genet 1992 Oct;51(4):942], Am J Hum Genet, 49, 1155
Guerra, 1997, A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol, Proc Natl Acad Sci USA, 94, 4532, 10.1073/pnas.94.9.4532
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
Jukema, 1997, The Asp9 Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis, Circulation, 94, 1913, 10.1161/01.CIR.94.8.1913
De Bruin, 1996, Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia, Eur J Clin Invest, 26, 631, 10.1111/j.1365-2362.1996.tb02146.x
Pajukanta, 1997, No evidence of linkage between familial combined hyperlipidemia and genes encoding lipolytic enzymes in Finnish families, Arterioscler Thromb Vasc Biol, 17, 841, 10.1161/01.ATV.17.5.841