Substitution of asparagine for aspartic acid at residue 9 (D9N) of lipoprotein lipase markedly augments risk of ischaemic heart disease in male smokers

Atherosclerosis

Volumn 149, Issue 1, 2000, Pages 75-81

  Talmud, Philippa J ^a   Bujac, Sarah R ^b   Hall, Stephen ^a   Miller, George J ^b   Humphries, Steve E ^a  

^a Centre for Cardiovascular Genetics   (United Kingdom)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Lipoprotein lipase; LPL genetic variants; Smoking interaction

Indexed keywords

ASPARAGINE; ASPARTIC ACID; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL;

ADULT; AMINO ACID ANALYSIS; AMINO ACID SUBSTITUTION; ARTICLE; CIGARETTE SMOKING; DISEASE PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; HUMAN EXPERIMENT; HUMAN TISSUE; ISCHEMIC HEART DISEASE; MALE; NORMAL HUMAN; PRIORITY JOURNAL; RISK ASSESSMENT; SMOKING;

ASPARAGINE; ASPARTIC ACID; CONFIDENCE INTERVALS; GENOTYPE; HETEROZYGOTE; HUMANS; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MYOCARDIAL ISCHEMIA; POPULATION SURVEILLANCE; PROPORTIONAL HAZARDS MODELS; PROSPECTIVE STUDIES; REFERENCE VALUES; RISK ASSESSMENT; SMOKING;

EID: 0034002654     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(99)00309-3     Document Type: Article

References (32)

1. Hokanson J.E., Austin M.A. Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: a meta-analysis of population-based prospective studies. J. Cardiovasc. Risk. 3:1996;213-219.
2. Olivecrona G., Olivecrona T. Triglyceride lipases and atherosclerosis. Curr. Opin. Lipidol. 6:1995;291-305.
3. 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. USA. 88:1991;8342-8346.
4. Mulder M., Lombardi P., Jansen H. et al. Low density lipoprotein receptor internalizes low density and very low density lipoproteins that are bound to heparan sulfate proteoglycans via lipoprotein lipase. J. Biol. Chem. 268:1993;9369-9375.
5. Mailly F., Tugrul Y., Reymer P.W. et al. A common variant in the gene for lipoprotein lipase (Asp9→Asn). Functional implications and prevalence in normal and hyperlipidemic subjects. Arterioscler. Thromb. Vasc. Biol. 15:1995;468-478.
6. Reymer P.W., Gagne E., Groenemeyer B.E. et al. A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat. Genet. 10:1995;28-34.
7. Fisher R.M., Mailly F., Peacock R.E. et al. 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. 36:1995;2104-2112.
8. Fisher R.M., Humphries S.E., Talmud P.J. Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis. Atherosclerosis. 135:1997;145-159.
9. Wittrup H.H., Tybjaerg Hansen A., Abildgaard S. et al. A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. J. Clin. Invest. 99:1997;1606-1613.
10. Hokanson J.E. Lipoprotein lipase gene variants and risk of coronary disease: a quantitative analysis of population-based studies. Int. J. Clin. Lab. Res. 27:1997;24-34.
11. Miller G.J., Bauer K.A., Barzegar S. et al. The effects of quality and timing of venepuncture on markers of blood coagulation in healthy middle-aged men. Thromb. Haemost. 73:1995;82-86.
12. Doll R, Hill AB, Epidemiological approaches to the study of cancer and other chronic diseases. In: Mortality of British Doctors in Relation to Smoking; Observation on Coronary Thrombosis. National Cancer Institute Monograph 19, Haenzel W, editor. Bethesda MD: US Department of Health Education and Welfare, 1966:205-68.
13. Eliasson B., Mero N., Taskinen M.R. et al. The insulin resistance syndrome and postprandial lipid intolerance in smokers. Atherosclerosis. 129:1997;79-88.
14. Allen D.R., Browse N.L., Rutt D.L. et al. The effect of cigarette smoke, nicotine, and carbon monoxide on the permeability of the arterial wall. J. Vasc. Surg. 7:1988;139-152.
15. Blann A.D. The acute influence of smoking on the endothelium. Atherosclerosis. 96:1992;249-250.
16. Loew G.D. Blood viscosity and cardiovascular risk. Curr. Opin. Lipidol. 4:1993;283-287.
17. Miller G.J., Bauer K.A., Barzegar S. et al. Increased activation of the haemostaic system in men at high risk of fatal coronary heart disease. Thromb. Haemost. 75:1996;767-771.
18. Medical Research Council's Committee on Chronic Bronchitis and Questionaire on Respiratory Symptoms. 20 Park Crescent, London W1N 4AL, UK. Publications Group, Medical Research Council, 1995.
19. Prineas R.J., Crow R.S., Blackburn H. The Minnesota Code Manual of Electrocardiographic Findings. 1982;Boston, MA, John Wright PSC.
20. World Health Organization Regional Office for Europe and Myocardial Infarction Community Register. Public Health in Eurpoe. Copenhagen: WHO, 1976:5.
21. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
22. Hall S., Chu G., Miller G. et al. A common mutation in the lipoprotein lipase gene promoter, -93T/G. is associated with lower plasma triglyceride levels and inceased promoter acitivity in vitro. Arterioscler. Thromb. Vasc. Biol. 17:1997;1969-1976.
23. Day I.N., Humphries S.E., Richards S. et al. High-throughput genotyping using horizontal polyacrylamide gels with wells arranged for microplate array diagonal gel electrophoresis (MADGE). Biotechniques. 19:1995;830-835.
24. Cox D.R. Regression models and life-tables. J. Royal. Stat. Soc. 34:1972;87-220.
25. Zhang H., Henderson H., Gagne S.E. et al. Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function. Biochim. Biophys. Acta. 1302:1996;159-166.
26. Gerdes C., Fisher R.M., Nicaud V. et al. 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 state: the European Atherosclerosis Research Study. Circulation. 96:1997;733-740.
27. Dalmon J., Laurent M., Courtois G. The human beta fibrinogen promoter contains a hepatocyte nuclear factor 1-dependent interleukin-6-responsive element. Mol. Cell. Biol. 13:1993;1183-1193.
28. Meade T.W., Mellows S., Brozovic M. et al. Haemostatic function and ischaemic heart disease: principal results of the Northwick Park Heart Study. Lancet. 2(8506):1986;533-537.
29. Fickl H., Van Antwerpen V.L., Richards G.A. et al. Increased levels of autoantibodies to cardiolipin and oxidised low density lipoprotein are inversely associated with plasma vitamin C status in cigarette smokers. Atherosclerosis. 124:1996;75-81.
30. Saxena U., Goldberg I.J. Endothelial cells and atherosclerosis: lipoprotein metabolism, matrix interactions, and monocyte recruitment. Curr. Opin. Lipidol. 5:1994;316-322.
31. Obunike J.C., Paka S., Pillarisetti S. et al. Lipoprotein lipase can function as a monocyte adhesion protein. Arterioscler. Thromb. Vasc. Biol. 17:1997;1414-1420.
32. Hendriks W.L., van der Boom H., van Vark L.C. et al. Lipoprotein lipase stimulates the binding and uptake of moderately oxidized low-density lipoprotein by J774 macrophages. Biochem. J. 314:1996;563-568.