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by Pierre N. M. Demacker B , Louis M. Havekes E , Dorret I. Boomsma C , Anton F. H. Stalenhoef B , Rune R. Frants A , Johannes J. P. Kastelein D

Citations

657	Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res - SA - 1988 (Show Context) Citation Context ... A1 and apo B were determined by rate immunonephelometry as previously described for apo B [27]. 2.3. DNA analysis of the LPL gene. Genomic DNA was isolated from leucocytes according to Miller et al. =-=[28]-=-. All exons, intron/exon boundaries and the promoter region, between positions −12 and −475, of the LPL gene were amplified by polymerase chain reaction (PCR) and products were screened for mutations ...
122	Programs for pedigree analysis: - Lange, Weeks, et al. - 1988 (Show Context) Citation Context ...J.V. Hoffer et al. / Atherosclerosis 138 (1998) 91–99 93 mutations on lipoprotein traits using all carriers in multiple families, a pedigree-based maximum likelihood method, developed by Lange et al. =-=[30,31]-=-, was used as has been described previously [29]. The Fisher package [30] was used for the genetic modeling. The most general (full) model allowed for the effects of (i) age, (ii) gender, (iii) N291S,...
111	Motulsky AG. Hyperlipidemia in coronary heart disease - JL, WR, et al. (Show Context) Citation Context ... Familial combined hyperlipidemia (FCHL) is a common lipid trait found among survivors of premature myocardial infarction. In the general population, FCHL occurs with an estimated frequency of 0.3–2% =-=[1,2]-=-. Goldstein et al. [1] and Rose et al. [2] were the * Corresponding author. Tel.: +31 71 5276085; fax: +31 71 5276075; e-mail: hoffer@ruly46.leidenuniv.nl 0021-9150/98/$19.00 © 1998 Elsevier Science I...
68	Extensions to pedigree analysis. III. Variance components by the scoring method. - Lange, Westlake, et al. - 1976 (Show Context) Citation Context ...J.V. Hoffer et al. / Atherosclerosis 138 (1998) 91–99 93 mutations on lipoprotein traits using all carriers in multiple families, a pedigree-based maximum likelihood method, developed by Lange et al. =-=[30,31]-=-, was used as has been described previously [29]. The Fisher package [30] was used for the genetic modeling. The most general (full) model allowed for the effects of (i) age, (ii) gender, (iii) N291S,...
48	A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol - Guerra, Wang, et al. - 1997
25	Brunzell JD, Fitch WL, Krauss RM. Inheritance of low density lipoprotein subclass patterns in familial combined hyperlipidemia. Arteriosclerosis - MA - 1990
23	Sing CF. The genderspecific apolipoprotein E genotype influence on the distribution of lipids and apolipoproteins in the population of Rochester, MN, I: pleiotropic effects on means and variances - SL, RE, et al. - 1991
20	A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis - Reymer, Gagne, et al. - 1995 (Show Context) Citation Context ...red with a control population [19,20]. In vitro mutagenesis studies indicated that the N291S mutation resulted in a decrease in the catalytic function of the LPL protein to 69% of the normal activity =-=[40]-=-. Although the results found for in vitro expression studies using the D9N construct indicated lower levels of LPL activity and mass compared with the wild-type construct, the specific activity was wi...
16	Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia. Arterioscler Thromb - Cullen, Farren, et al. - 1994 (Show Context) Citation Context ...f either VLDL, LDL or both, FCHL was suggested to be an autosomal dominant disorder [1]. In addition, complex segregation analysis provided evidence for a major gene acting primarily on triglycerides =-=[7]-=-. Babirak et al. [8] showed that a subgroup of FCHL patients had reduced lipoprotein lipase (LPL) activity. LPL is the rate-limiting enzyme for hydrolysis of the triglyceride core in circulating chylo...
14	Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. - JD - 1995 (Show Context) Citation Context ...8] showed that a subgroup of FCHL patients had reduced lipoprotein lipase (LPL) activity. LPL is the rate-limiting enzyme for hydrolysis of the triglyceride core in circulating chylomicrons, and VLDL =-=[9]-=-. The human LPL gene has been localized on chromosome 8p22 and spans approximately 30 kb. The gene consists of 10 exons encoding a mature protein of 448 amino acids [10– 12]. Several mutations leading...
14	Iverius P-H, Fujimoto WY, Brunzell JD. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis - SP
13	BG, Brunzell JD. Familial combined hyperlipidemia and abnormal lipoprotein lipase. Arterioscler Thromb - SP, Brown - 1992 (Show Context) Citation Context ...r both, FCHL was suggested to be an autosomal dominant disorder [1]. In addition, complex segregation analysis provided evidence for a major gene acting primarily on triglycerides [7]. Babirak et al. =-=[8]-=- showed that a subgroup of FCHL patients had reduced lipoprotein lipase (LPL) activity. LPL is the rate-limiting enzyme for hydrolysis of the triglyceride core in circulating chylomicrons, and VLDL [9...
11	DNA polymorphisms at the lipoprotein lipase gene: associations in normal and hypertriglyceridaemic subjects - JC, JA, et al. - 1989
10	Inheritance of a combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype - Rose, Kranz, et al. - 1983 (Show Context) Citation Context ... Familial combined hyperlipidemia (FCHL) is a common lipid trait found among survivors of premature myocardial infarction. In the general population, FCHL occurs with an estimated frequency of 0.3–2% =-=[1,2]-=-. Goldstein et al. [1] and Rose et al. [2] were the * Corresponding author. Tel.: +31 71 5276085; fax: +31 71 5276075; e-mail: hoffer@ruly46.leidenuniv.nl 0021-9150/98/$19.00 © 1998 Elsevier Science I...
10	Groenemeyer BF, Asplund-Carlson A, Vallance D - Mailly, Tugrul, et al. - 1995 (Show Context) Citation Context ...e were found to be associated with elevated lipid levels in these patients [17–22]. Since these mutations were also detected with a relatively high frequency in apparently healthy control populations =-=[19,20]-=-, this indicates that heterozygosity for these LPL mutations requires the presence of additional genetic and/or environmental factors for the expression of hyperlipidemia. For instance, Ma et al. [23]...
10	Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler Thromb 14:1250–1257. - Gagné, Jr, et al. - 1994 (Show Context) Citation Context ... found for in vitro expression studies using the D9N construct indicated lower levels of LPL activity and mass compared with the wild-type construct, the specific activity was within the normal range =-=[19,21]-=-. Interestingly, we found that the D9N mutation is in strong linkage disequilibrium with a mutation in the promoter region, −93 T�G as has also been shown previously by others [41]. Expression studies...
10	Galton DJ. Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion. J Lipid Res - Stocks, JA - 1992 (Show Context) Citation Context ...hyperlipidemic phenotype. Three previously reported amino acid changes were detected: D9N, N291S and S447X [23,32,33]. The S447X mutation occurs with a high frequency (0.11) in the general population =-=[33,34]-=- and does not impair the capacity of LPL to hydrolyze long-chain fatty acids in vitro [35]. This LPL truncation variant was reported to be present at a lower frequency in hypertriglyceridemic subjects...
9	Iverius P-H, Hata A, Wu LL, Hillas E, Williams RR, Lalouel J-M: Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation - DE, Emi
9	Hamsten A, Seed M, Yudkin JS, Beisiegel U, Feussner G, Miller G, Humphries SE, Talmud PJ. Interaction of the lipoprotein lipase asparagine 291–serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: a study in hyper - RM, Mailly, et al. - 1995 (Show Context) Citation Context ...ead to severe chylomicronemia during pregnancy. In addition, an interaction of the N291S mutation with body mass index (BMI) resulting in a more severe hyperlipidemic phenotype has also been observed =-=[18]-=-. So far, most studies have been performed using unrelated FCHL patients. In order to further investigate the contribution of LPL to the expression and variability of the FCHL phenotype we have analyz...
9	DJ: DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population. - RK, EWA, et al. - 1994
7	Brunzell JD, Deeb SS: The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity. Arterioscler Thromb - DN - 1994
6	TG, Lusis AJ, Schotz MC, Lawn RM. Human lipoprotein lipase complementary DNA sequence - KL, Kirchgessner (Show Context) Citation Context ...ATA TCC AAT TTT TCC TT-3� (sense); 5�-GGG GTC AGG GCA AAT TTA CTT TCA ATG-3� (anti-sense). The 3� primer was designed with a nucleotide mismatch (underlined) as compared to the wild type LPL sequence =-=[12]-=- to abolish a second TaqI site. The 3�-primer was elongated with a 20 basepair AT-tail for optimal visualization of the digested fragments. After amplification, the PCRproduct was digested with TaqI, ...
6	Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent. J Lipid Res - Minnich, Kessling, et al. - 1994
6	Brunzell JD, Hayden MR. High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform. J Lipid Res - Ma, TC, et al. - 1994 (Show Context) Citation Context ...,20], this indicates that heterozygosity for these LPL mutations requires the presence of additional genetic and/or environmental factors for the expression of hyperlipidemia. For instance, Ma et al. =-=[23]-=- showed that partial LPL deficiency in combination with an APOE*2 allele can lead to severe chylomicronemia during pregnancy. In addition, an interaction of the N291S mutation with body mass index (BM...
6	Emi M, Lalouel JM. 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 - Hata, Robertson - 1990 (Show Context) Citation Context ...fore, we screened Dutch FCHL patients for mutations in the LPL gene that might explain their hyperlipidemic phenotype. Three previously reported amino acid changes were detected: D9N, N291S and S447X =-=[23,32,33]-=-. The S447X mutation occurs with a high frequency (0.11) in the general population [33,34] and does not impair the capacity of LPL to hydrolyze long-chain fatty acids in vitro [35]. This LPL truncatio...
6	lipase gene polymorphisms: associations with myocardial infarction and lipoprotein levels, the ECTIM study - JEMAA, FUMERON, et al. - 1995
5	Peng RL. Structure of the human lipoprotein lipase gene [published erratum appears in Biochemistry 1989;28:6786]. Biochemistry - SS - 1989 (Show Context) Citation Context ...ification of carriers of the −93 T�G promoter mutation was performed by PCR using the primers: 5�-GGC AGG GTT GTT CCT CAT TAC TGT T-3� (sense) and 5�-GAC ACT GTT TTC ACG CCA AGG CTG C-3� (anti-sense) =-=[10]-=-. The reaction mixture included 15 pmol of each primer, 0.5 �g genomic DNA, 0.2 mM of each dNTP, 10 mM Tris–HCl; pH 9.0, 1.5 mM MgCl 2, 50 mM KCl, 0.01% (w/v) gelatin, 0.1% Triton X-100, 1 unit Taq po...
5	Appelman EEG, Seidel JC, Kromhout D, Bijvoet SM, van de Oever K, Bruin T, Hayden MR, Kastelein JJP. A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum Mol Genet - PWA, BE, et al. - 1995 (Show Context) Citation Context ...e were found to be associated with elevated lipid levels in these patients [17–22]. Since these mutations were also detected with a relatively high frequency in apparently healthy control populations =-=[19,20]-=-, this indicates that heterozygosity for these LPL mutations requires the presence of additional genetic and/or environmental factors for the expression of hyperlipidemia. For instance, Ma et al. [23]...
5	Biervliet JP, Rosseneu M, Vinaimont N, Smith LC, Chen SH, Chan L. Catalytic triad residue mutation (Asp156-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447-Ter) in a Turkish family - Faustinella, Chang, et al. - 1991 (Show Context) Citation Context ...91S and S447X [23,32,33]. The S447X mutation occurs with a high frequency (0.11) in the general population [33,34] and does not impair the capacity of LPL to hydrolyze long-chain fatty acids in vitro =-=[35]-=-. This LPL truncation variant was reported to be present at a lower frequency in hypertriglyceridemic subjects and was suggested to be protective against hypertriglyceridemia [34]. Recently, a signifi...
5	lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis: the Regress Study. Circulation - JW, AJ, et al. - 1996 (Show Context) Citation Context ...ts revealed associations with higher plasma triglyceride as well as cholesterol levels. A number of studies have analyzed the effect of carrier status among patients with premature CAD. These studies =-=[46,47]-=- revealed that carriers had not only higher levels of several plasma lipid traits but also an increased progression of coronary atherosclerosis. The studies [48] examining the −93T�G/D9N haplotype and...
5	Antikainen M, Taskinen M-R, Perola M, Murtomäki-Repo S, Ehnholm S, Nuotio I, Suurinkeroinen L, Lahdenkari A-T, et al. No evidence of linkage between familial combined hyperlipidemia and genes encoding major lipolytic enzymes in Finnish families. Arterios - Pajukanta, Porkka - 1997 (Show Context) Citation Context ...at these mutations represent the major gene causing the affected FCHL phenotype. In addition, linkage analysis using intragenic markers did not give evidence for linkage between FCHL and the LPL gene =-=[49]-=-. In contrast, our data show that both mutations were associated with significantly elevated lipid levels. This indicates that in addition to the LPL mutations,s98 other genetic predisposing factors h...
4	Forte T, Bachorik PS, Smith H, Sniderman A. Hyperapobetalipoproteinemia in a kindred with familial combined hyperlipidemia and familial hypercholesterolemia. Arteriosclerosis - PO, White
4	Demacker PNM, Lutterman JA, van’t Laar A. Plasma lipoproteins, apolipoproteins, and triglyceride metabolism in familial hypertriglyceridemia. Arteriosclerosis - AFH
4	Reymer PWA, Berghuis R, Bruin T, Jansen H, Seidell JC, Kastelein JJP. Ser447stop mutation in lipoprotein lipase is associated with elevated HDL cholesterol levels in normolipidemic males. Arterioscler Thromb Vasc Biol - JA, BE, et al. - 1997 (Show Context) Citation Context ...de levels was found among coronary artery disease (CAD) patients carrying the S447X mutation (heterozygotes and homozygotes) [36–38]. Similar results were found in healthy, normolipidemic individuals =-=[39]-=-. We did not detect any association with one of these lipid levels in our FCHL families. These opposing results could be due to the effect of additional genetic factors involved in FCHL which also inf...
3	AP, Van't Laar. Evaluation of the dual precipitation method by comparison with the ultracentrifugation method of measurement of lipoproteins in serum. Clin Chem - PNM, HE, et al. - 1977 (Show Context) Citation Context ... temperature, and used immediately for lipid and lipoprotein analysis. VLDL (d�1.006 g/ml) was isolated by ultracentrifugation for 16 h at 36000 rpm in an fixed-angle TFT 45.6 rotor (Kontron, Zurich) =-=[25]-=-. Plasma and lipoprotein cholesterol and triglyceride concentrations were determined by enzymatic, commercially available reagents (No. 237574; Boehringer-Mannheim, FRG; Sera-pak, No. 6639; Tournai, B...
3	de Bruin TWA, Demacker PNM, Kastelein JJP, Stalenhoef AFH. Comparison of gemfibrozil versus simvas- tatin in familial combined hyperlipidemia and effects on apolipoprotein-B-containing lipoproteins, low-density lipoprotein subfraction profile, and low-den - SJH (Show Context) Citation Context ...sequently calculated by subtracting HDL- and VLDL cholesterol from total cholesterol. The apolipoproteins apo A1 and apo B were determined by rate immunonephelometry as previously described for apo B =-=[27]-=-. 2.3. DNA analysis of the LPL gene. Genomic DNA was isolated from leucocytes according to Miller et al. [28]. All exons, intron/exon boundaries and the promoter region, between positions −12 and −475...
3	Bredie SJH, Boomsma DI, Reymer PWA, Kastelein JJP, de Knijff P, Demacker PNM, Stalenhoef AFH, Havekes LM, Frants RR: The lipoprotein lipase (Asn291-Ser) mutation associated with elevated lipid level families with familial combined hyperlipidaemia. Atheros - MJV - 1996 (Show Context) Citation Context ... basepair AT-tail for optimal visualisation of the digested fragment. In case of the S447X, two fragments could be detected. Identification of the N291S mutation was performed as described previously =-=[29]-=-. 2.4. Statistical analysis To test for the statistical significance of the effect of the haplotype containing the −93 T�G and D9N M.J.V. Hoffer et al. / Atherosclerosis 138 (1998) 91–99 93 mutations ...
3	Bruschke AVG, Boerwinkle E, Hayden MR, Kastelein JJP. Genetic variant showing a positive interaction with b-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease pat - BE, MD, et al. - 1997 (Show Context) Citation Context ... have shown that this gender-specific effect on lipid levels is not found for the N291S mutation [29]. We are aware of only one other study in which the D9N mutation has been studied in FCHL families =-=[36]-=-. In that study, the presence of the D9N mutation was associated with hypertriglyceridemia and reduced HDL-cholesterol levels. No association with hypercholesterolemia was found within the two familie...
3	Association between the LPLD9N mutation in the lipoprotein lipase gene and plasma lipid traits in myocardial infarction survivors from the ECTIM Study. Atherosclerosis - Mailly, Fisher, et al. - 1996 (Show Context) Citation Context ...ts revealed associations with higher plasma triglyceride as well as cholesterol levels. A number of studies have analyzed the effect of carrier status among patients with premature CAD. These studies =-=[46,47]-=- revealed that carriers had not only higher levels of several plasma lipid traits but also an increased progression of coronary atherosclerosis. The studies [48] examining the −93T�G/D9N haplotype and...
2	TG, Komaromy MC, Mohandas T, Schotz MC, Lusis AJ. Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics - RS, Zollman, et al. - 1987
2	Hijmans AG, Vos-Janssen HE, van’t Laar A, Jansen AP. A study of the use of polyethylene glycol in estimating cholesterol in high-density lipoprotein. Clin Chem - PNM - 1980 (Show Context) Citation Context ... commercially available reagents (No. 237574; Boehringer-Mannheim, FRG; Sera-pak, No. 6639; Tournai, Belgium). HDL-cholesterol was determined in whole plasma using the polyethylene glycol 6000 method =-=[26]-=-. LDL cholesterol was subsequently calculated by subtracting HDL- and VLDL cholesterol from total cholesterol. The apolipoproteins apo A1 and apo B were determined by rate immunonephelometry as previo...
1	low density lipoprotein subfraction, and insulin associations with familial combined hyperlipidemia. Arteriosclerosis - Apolipoprotein - 1989
1	Foger B, Brandstatter E, Paulwebber B, Sandhofer F, Patch JR. Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities - Miesenbock, Holz - 1993
1	Results and conclusions of the prospective cardivascular - Assmann, Schulte - 1993 (Show Context) Citation Context ...rides (at first measurement; cholesterol and/or triglyceride levels above the 90th percentile using the age- and sex-related percentile levels of the Prospective Cardiovascular Münster (PROCAM) study =-=[24]-=-, (ii) a personal or family history of premature cardiovascular disease, and (iii) at least one first degree relative with elevated total cholesterol and/ or triglycerides levels. None of the FCHL pro...
1	Familial chylomicronemia: identification of a unique patient homozygous for two seperate mutations in the LPL gene. Circulation 1991;84(suppl II):376 - Lohse, OU, et al. (Show Context) Citation Context ...fore, we screened Dutch FCHL patients for mutations in the LPL gene that might explain their hyperlipidemic phenotype. Three previously reported amino acid changes were detected: D9N, N291S and S447X =-=[23,32,33]-=-. The S447X mutation occurs with a high frequency (0.11) in the general population [33,34] and does not impair the capacity of LPL to hydrolyze long-chain fatty acids in vitro [35]. This LPL truncatio...
1	Coopre JA, Humphries SE, Talmud PJ. 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 - Hall, Chu, et al. - 1997 (Show Context) Citation Context ...the normal range [19,21]. Interestingly, we found that the D9N mutation is in strong linkage disequilibrium with a mutation in the promoter region, −93 T�G as has also been shown previously by others =-=[41]-=-. Expression studies with this promoter mutation [41] showed an increase in expression levels, suggesting that for this allele, the substitution at position −93 seems to be the functional mutation rat...
1	Regis-Bailly A, Salah D, Rakotovao R, Siest G, Visvikis S, Tiret L. Family study of lipoprotein lipase gene polymorphisms and plasma triglyceride levels. Genet Epidemiol - Georges - 1996 (Show Context) Citation Context ...llele. Similar results were found in another study of LPL polymorphisms and plasma triglyceride levels within families in which associations with elevated lipid levels were only found for the fathers =-=[42]-=-. Since the effect associated with the −93T�G/D9N haplotype is smaller in females than in males this implies a possible modulation by hormonal or other gender-specific factors. This indicates that thi...
1	Betard C, Xhignesse M, Lussier-Cacan S, Davignon D. Patterns of association between genetic variability in apolipoprotein (apo) B, apo A1-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein tra - Kessling, Ouelette, et al. - 1991
1	Barlingen HHJJ, Fisher R, Castro Cabezas M, Talmud P, Dallinga-Thie GM, Humphries SE. Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia. Eur J Clin Invest - TWA, Mailly, et al. - 1996 (Show Context) Citation Context ...s with premature CAD. These studies [46,47] revealed that carriers had not only higher levels of several plasma lipid traits but also an increased progression of coronary atherosclerosis. The studies =-=[48]-=- examining the −93T�G/D9N haplotype and N291S within FCHL families did not indicate that these mutations represent the major gene causing the affected FCHL phenotype. In addition, linkage analysis usi...