Genetic variant showing a positive interaction with β-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients: The Ser447- stop substitution in the lipoprotein lipase gene

Circulation

Volumn 95, Issue 12, 1997, Pages 2628-2635

  Groenemeijer, Björn E ^a   Hallman, Michael D ^e   Reymer, Paul W A ^a   Gagné, Eric ^b   Kuivenhoven, Jan Albert ^a   Bruin, Taco ^a   Jansen, Hans ^c   Lie, Kong I ^a   Bruschke, Albert V G ^d   Boerwinkle, Eric ^e   Hayden, Michael R ^b   Kastelein, John J P ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e NONE

Author keywords

Coronary disease; Genetics; Lipoproteins

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; SERINE; TRIACYLGLYCEROL;

AMINO ACID SUBSTITUTION; ARTICLE; ATHEROGENESIS; CORONARY ARTERY DISEASE; CORONARY RISK; GENE MUTATION; GENETICS; HUMAN; HUMAN CELL; LIPOLYSIS; LIPOPROTEIN METABOLISM; PRIORITY JOURNAL; STOP CODON;

EID: 0031008144     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.95.12.2628     Document Type: Article

References (44)

1. Martin MJ, Hulley SB, Browner WS, Kuller LH, Wentworth D. Serum cholesterol, blood pressure and mortality: implications from a cohort of 361,662 men. Lancet. 1986;1:933-936.
2. Assmann G, Schulte H. Relation of high-density lipoprotein cholesterol and triglycerides to incidence of atherosclerotic coronary artery disease (the PROCAM experience). Am J Cardiol. 1992;70:733-737.
3. Lalouel J-M, Wilson DE, Iverius P-H. Lipoprotein lipase and hepatic triglyceride lipase: molecular and genetic aspects. Curr Opin Lipidol. 1992;3:186-195.
4. Olivecrona T, Bengtsson-Olivecrona G. Lipoprotein lipase and hepatic lipase. Curr Opin Lipidol. 1993;4:187-196.
5. Beisiegel U, Weber W, Bengtsson-Olivecrona G. Lipoprotein lipase enhances the binding of chylomicrons to low density lipoprotein receptor-related protein. Proc Natl Acad Sci U S A. 1991;88:8342-8346.
6. Heinzman C, Ladias S, Antonarakis S, Kirchgessner T, Schotz M, Lusis AJ. RfLP for the human lipoprotein lipase (LPL) gene: HindIII. Nucleic Acids Res. 1987;15:6763.
7. Fisher KL, Fitzgerald GA, Lawn RM. Two polymorphisms in the human lipoprotein lipase (LPL) gene. Nucleic Acids Res. 1987;15:7657.
8. Funke H, Reckwerth A, Stapenhorst D, Schulze Beiering M, Jansen M, Assmann G. BstNI (EcoRII) RFLP in the lipoprotein lipase gene (LPL). Nucleic Acids Res. 1988;6:2741.
9. Heinzmann C, Kirchgessner T. Kwiterovich PO, Ladias JA, Derby C, Antonarakis SE, Lusis AJ. DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible associations with high-density lipoprotein levels. Hum Genet. 1991;86:578-584.
10. Wang XL, McCredie RM, Wilcken DEL. Common DNA polymorphisms at the lipoprotein lipase gene: association with severity of coronary artery disease and diabetes. Circulation. 1996;93:1339-1345.
11. Auwerx J, Leroy P. Schoonjans K. Lipoprotein lipase: recent contributions from molecular biology. Crit Rev Clin Lab Sci. 1992;29:243-251.
12. Taskinen MR, Nikkila EA. High density lipoprotein subfractions in relation to lipoprotein lipase activity of tissues in man: evidence for reciprocal regulation of HDL2 and HDL3 levels by lipoprotein lipase. Clin Chim Acta. 1981;115:63-71.
13. Tikkanen MJ, Nikkila EA. Post-heparin plasma lipoprotein lipase and hepatic lipase are determinants of hypo and hyper-alphalipoproteinemia. J Lipid Res. 1989;30:1117-1126.
14. Babirak SP, Iverius P-H, Fujimoto WY, Brunzell JD. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis. 1989;9:326-334.
15. Babirak SP, Brown BG, Brunzell JD. Familial combined hyperlipidemia and abnormal lipoprotein lipase. Arterioscler Thromb. 1992;12:1176-1183.
16. Kwiterovich PO Jr. Genetics and molecular biology of familial combined hyperlipidemia. Curr Opin Lipidol. 1993;4:133-143.
17. Zang H, Reijmer PWA, Liu M-S, Forsythe IJ, Groenemeijer BE, Frohlich BE, Brunzell JD, Kastelein JJP, Hayden MR, Ma Y. Patients with apo E3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn291→Ser mutation in the human LPL gene. Arterioscler Thromb Vasc Biol. 1995;15:1695-1703.
18. Reymer PWA, Gagné E, Groenemeijer BE, Zhang H, Forsyth I, Jansen H, Seidell JC, Kromhout D, Lie KI, Kastelein JJP, Hayden MR. A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat Genet. 1995;10:28-34.
19. Hata A, Robertson M, Emi M, Lalouel J-M. 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. Nucleic Acids Res. 1990;18:5407-5411.
20. Stocks J, Thorn JA, Galton DJ. Lipoprotein lipase genotypes for a common premature codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion. J Lipid Res. 1992;33:853-857.
21. Peacock RE, Hamsten A, Nilsson-Ehle P, Humphries SE. Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoproteins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden. Atherosclerosis. 1992;97:171-185.
22. Jukema JW, Bruschke AVG, van Boven AJ, Reiber JHC, Bal ET, Zwinderman AH, Jansen H, Boerma GJM, van Rappard FM, Lie KI. Effects of lipid lowering by pravastatin on progression and regression of coronary artery disease in symptomatic men with normal to moderately elevated serum cholesterol levels: the Regression Growth Evaluation Statin Study (REGRESS). Circulation. 1995;91:2528-2540.
23. Warnick GR, Nguyen P, Albers JJ, Comparison of improved precipitation methods for quantitation of the high density cholesterol. Clin Chem. 1985;31:217-224.
24. Bucolo G, David H. Quantitative determination of serum triglycerides by use of enzymes. Clin Chem. 1973;19:475-482.
25. Friedewald WT. Levy RI, Frederickson DS. Estimation of low density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem. 1972;18:499-502.
26. Huttunen JK, Ehnholm C, Kekki M, Nikkilä EA. Post-heparin lipoprotein lipase and hepatic lipase in normal subjects and in patients with hypertriglycerideniia: correlations to sex, age and various parameters of triglyceride metabolism. Clin Sci Mol Med. 1976;50:249-261.
27. 156 is essential for catalysis. J Biol Chem, 1992;267:1918-1923.
28. Taskinen MR, Nikkila EA. High density lipoprotein subfractions in relation to lipoprotein lipase activity of tissues in man: evidence for reciprocal regulation of HDL2 and HDL3 levels by lipoprotein lipase. Clin Chim Acta. 1981;116:63-71.
29. Shepherd J. Fibrates and Statins in the treatment of hyperlipidemia: an appraisal of their efficacy and safety. Eur Heart J. 1995;16:5-13.
30. Reymer PWA, Groenemeijer BE, Gagné E, Myao L, 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. 1995;4:1543-1549.
31. Kuivenhoven JA, Groenemeijer BE, Boer JMA, Reijmer 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;17:560-568.
32. Faustinella F, Chang A, van Biervliet JP, Rosseneau M, Vinaimont N, Smith LC, Chen SH, Chan L. Catalytic triad residue mutation (Asp156Gly) causing familial lipoprotein lipase deficiency. J Biol Chem. 1991;266:14418-14424.
33. Kobayashi J, Nishida T, Ameis D, Stahnke G, Schotz MC, Hashimoto H. Fukamachi I, Shirai K, Saito Y, Yoshida S. A heterozygous mutation (the codon for Ser447 - a stop codon) in lipoprotein lipase contributes to a detect in lipid interface recognition in a case with type I hyperlipidemia. Biochem Biophys Res Commun. 1992;182:70-77.
34. Kozaki K, Gotoda T, Kawamura M, Shimano H, Yazaki Y, Ouchi Y, Orimo H, Yamada N. Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation. J Lipid Res. 1993;34:1765-1772.
35. Davis RC, Wong H, Nikazy J, Wang K, Han Q, Schotz MC. Chimeras of hepatic lipase and lipoprotein lipase: domain localization of enzyme-specific properties. J Biol Chem. 1992;267:21499-21504.
36. Kihara S, Kubo M, Ikeda N, Yokoyama S, Matsuzawa Y, Tarui S, Yamamoto A, Hostetler KY. Inhibition of purified postheparin lipoprotein lipase by beta-adrenergic blockers in vitro. Biochem Pharmacol. 1989;38:407-411.
37. Ferrara LA, Marotte T, Rubba P, de Simone B, Leccia G, Soro S, Mancini M. Effects of alpha-adrenergic and beta-adrenergic receptor blockade on lipid metabolism. Am J Med. 1986;80:104-108.
38. Rubba P, de Simone B. Marotta T, Leccia G, Soro S, Ferrara LA. Adrenergic blocking agents and lipoprotein lipase activity. J Endocrinol Invest. 1989;12:119-122.
39. Day JL, Metcalfe, J, Simpson N, Lowenthal L. Adrenergic mechanisms in the control of plasma lipids in man. Am J Med. 1984;76:94-96.
40. Kubo M, Hostetler KY. Inhibition of purified bovine milk lipoprotein lipase by propranolol and other beta-adrenergic blockers in vitro. Biochim Biophys Acta. 1987;918:168-174.
41. Raynolds MV, Awald PD, Gordon DF, Gutierrez-Hartmann A, Rule DC, Wood WM, Eckel RH. Lipoprotein lipase gene expression in rat adipocytes is regulated by isoproterenol and insulin through different mechanisms. Mol Endocrinol. 1990;4:1416-1422.
42. Antras J, Lasnier F, Pairault J. Beta-adrenergic-cyclic AMP signalling pathway modulates cell function at the transcriptional level in 3T3-F442A adipocytes. Mol Cell Endocrinol. 1991;82:183-190.
43. Boerma GJM, Jansen AP, Jansen RTP, Leijense B, van Strik R. Minimizing interlaboratory variation in routine assay of serum cholesterol through the use of serum calibrators. Clin Chem. 1986;32:943-947.
44. Myers GL, Cooper GR, Winn CL, Smith SJ. The Centers for Disease Control-National Heart, Lung and Blood Institute Lipid Standardization Program. Clin Lab Med. 1989;105-135.