Increased coronary heart disease in Japanese-American men with mutation in the cholesteryl ester transfer protein gene despite increased HDL levels

Journal of Clinical Investigation

Volumn 97, Issue 12, 1996, Pages 2917-2923

  Zhong, Shaobin ^a   Sharp, Dan S ^b   Grove, John S ^e   Bruce, Can ^d   Yano, Katsuhiko ^c   Curb, J David ^c   Tall, Alan R ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^c KUAKINI MEDICAL CENTER   (United States)

^d UNIVERSITY OF HAWAII   (United States)

^e UNIVERSITY OF HAWAII   (United States)

Author keywords

atherosclerosis; CETP; coronary heart disease; HDL; mutation

Indexed keywords

CHOLESTEROL ESTER TRANSFER PROTEIN; HIGH DENSITY LIPOPROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL;

AGED; ARTICLE; ASIAN AMERICAN; ATHEROGENESIS; ATHEROSCLEROSIS; CHOLESTEROL TRANSPORT; GENE FREQUENCY; GENE MUTATION; HUMAN; ISCHEMIC HEART DISEASE; JAPAN; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR;

EID: 0029948968     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118751     Document Type: Article

References (40)

1. Rhoads, G.G., C.L. Gulbrandsen, and A. Kagan. 1976. Serum lipoproteins and coronary heart disease in a population study of Hawaii Japanese men. N. Engl. J. Med. 294:293-298.
2. Miller, G.J., and N.E. Miller. Plasma-high-density-lipoprotein concentration and development of ischaemic heart-disease. Lancet. 1:16-19.
3. Gordon, D.J., J.L. Probstfield, and R.J. Garrison. 1989. High-density lipoprotein cholesterol and cardiovascular disease. Circulation. 79:8-15.
4. Gordon, D.J., and B.M. Rifkind. 1989. High density lipoprotein - the clinical implications of recent studies. N. Engl. J. Med. 321:1311-1316.
5. Glomset, J.A. 1968. The plasma lecithin:cholesterol acyltransferase reaction. J. Lipid Res. 9:155-167.
6. Rothblat, G.H., F.H. Mahlberg, W.J. Johnson, and M.C. Phillips. 1992. Apolipoproteins, membrane cholesterol domains, and the regulation of cholesterol efflux. J. Lipid. Res. 33:1091-1097.
7. Fielding, C.J., and P.E. Fielding. 1995. Molecular physiology of reverse cholesterol transport. J. Lipid. Res. 36:211-228.
8. Badimon, J., L. Badimon, and V. Fuster. 1990. Regression of atherosclerotic lesions by high density lipoprotein fraction in the cholesterol-fed rabbit. J. Clin. Invest. 85:1234-1241.
9. Paszty, C., N. Maeda, J. Verstuyft, and E.M. Rubin. 1994. Apolipoprotein AI transgene corrects apolipoprotein E deficiency-induced atherosclerosis in mice. J. Clin. Invest. 94:899-903.
10. Reichl, D., and N.E. Miller. 1989. Pathophysiology of reverse cholesterol transport. Insights from inherited disorders of lipoprotein metabolism. Arteriosclerosis. 9:785-797.
11. Parthasarathy, S., J. Barnett, and L.G. Fong. 1990. High-density lipoprotein inhibits the oxidative modification of low-density lipoprotein. Biochem. Biophys. Acta. 1044:275-283.
12. Navab, M., S. Imes, S.Y. Hama, G.P. Hough, L.A. Ross, R.W. Bork, A.J. Valente, J.A. Berliner, D.C. Drinkwater, H. Laks, and A.M. Fogelman. 1991. Monocyte transmigration induced by modification of low-density lipoprotein in cocultures of human aortic wall cells is due to induction of monocyte chemotactic protein I synthesis and is abolished by high density lipoprotein. J. Clin. Invest. 88:2039-2046.
13. Khoo, J.C., E. Miller, P. McLoughlin, and D. Steinberg. 1990. Prevention of low-density lipoprotein aggregation by high-density lipoprotein or apolipoprolein A-I. J. Lipid. Res. 31:645-652.
14. Williams, K.J., and I. Tabas. 1995. The response-to-retention hypothesis of early atherogenesis. Art. Thromb. Vasc. Biol. 15:551-561.
15. Breslow, J.L. 1993. Transgenic mouse models of lipoprotein metabolism and atherosclerosis. Proc. Natl. Acad. Sci. USA. 90:8314-8318.
16. Rubin, E.M., R.M. Krauss, E.A. Spangler, J.G. Verstuyft, and S.M. Clift. 1991. Inhibition of early atherogenesis in transgenic mice by human apolipoprotein AI. Nature (Lond.). 353:265-267.
17. Feinleib, M., R.J. Garrison, R. Fabsitz, J.C. Christian, Z. Hrubec, N.O. Bohrani, W.B. Kannel, R. Rosenman, J.T. Schwartz, and J.O. Wagner. 1977. The NHLBI twin study of cardiovascular disease risk factors: Methodology and summary of results. Am. J. Epidemiol. 106:284-285.
18. Austin, M. A., M-C. King, R.D. Bawol, S.B. Hulley, and G.D. Friedman. 1987. Risk factors for coronary heart disease in adult female twins: Genetic heritability and shared environmental influences. Am. J. Epidemiol. 125:308-318.
19. Bu, X., C.H. Warden, Y.R. Xia, C.D. Meester, D.L. Puppione, S. Teruya, B. Lokensgard, S. Daneshmand, J. Brown, R. Gray, J. Rotter, and A.J. Lusis. 1994. Linkage analysis of the genetic determinants of high-density lipoprotein concentrations and composition: evidence for involvement of the apolipoprotein A-II and cholesteryl ester transfer protein loci. Hum. Genet. 93: 639-648.
20. Cohen, J.C., Z. Wang, S.M. Grundy, M.R. Stoesz, and R. Guerra. 1994. Variation at the Hepatic Lipase and Apolipoprotein AI/CIII/AIV loci is a major cause of genetically determined variation in plasma HDL cholesterol levels. J. Clin. Invest. 94:2377-2384.
21. Tall, A.R. 1993. Plasma cholesteryl ester transfer protein. J. Lipid Res. 34:1255-74.
22. Brown, M.L., A. Inazu, C.B. Hesler, L.B. Agellon, C. Mann, M.E. Whitlock, Y.L. Marcel, R.W. Milne, J. Koizumi, H. Mabuchi, R. Takeda, and A.R. Tall. 1989. Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. Nature (Lond.). 342:488-551.
23. Inazu, A., M.L. Brown, C.B. Hesler, L.B. Agellon, J. Koizumi, K. Takala, Y. Maruhama, H. Mabuchi, and A.R. Tall. 1990. Increased high density lipoprotein caused by a common cholesleryl ester transfer protein gene mutation. N. Engl. J. Med. 323:1234-1238.
24. Takahashi, K., X-C. Jiang, N. Sakai, S. Yamashita, K. Hirano, H. Bujo, H. Yamazaki, J. Kusunoki, T. Miura, P. Kussie, Y. Matsuzawa, Y. Saito, and A.R. Tall. 1993. A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high-density lipoprotein. J. Clin. Invest. 92:2060-2064.
25. Inazu, A., X.C. Jiang, T. Haraki, N. Kamon, J. Koizumi, H. Mabuchi, R. Takeda, K. Takata, Y. Moriyama, M. Doi, and A.R. Tall. 1994. Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high-density lipoprotein cholesterol. J. Clin. Invest. 94:1872-1882.
26. Yano, K., D.M. Reed, and D.L. Mcgee. 1984. Ten year incidence of coronary heart disease in the Honolulu Heart Program: relationship to biological and lifestyle characteristics. Am. J. Epidiol. 119:653-666.
27. Worth, R.M., and A. Kagan. 1970. Ascertainment of men of Japanese ancestry in Hawaii through World War II Selective Service registration. J. Chron. Dis. 23:389-397.
28. Surveillance for the ascertainment of coronary heart disease and stroke. 1975. A. Int. J. Epidemiol. 4:265-270.
29. Fried, L., N. Borhani, and P. Enright for the CHS Investigators. 1991. The Cardiovascular Health Study: design and rationale. Ann. Epidemiol. 1:263-276.
30. Friedewald, W., R. Levy, and Fredrickson, D. 1972. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without the use of the preparative ultracentrifuge. Clin. Chem. 18:499-501.
31. Marcel, Y.L., H. Czarnecka, R. McPerson, C.B. Hesler, R.W. Milne, and A.R. Tall. 1990. Distribution and concentration of cholesteryl ester transfer protein in plasma of normolipidemic subjects. J. Clin. Invest. 85:10-17.
32. Fleiss, J.L. 1981. In Statistical Methods for Rates and Proportions. 2nd ed., John Wiley & Sons, New York.
33. Hayek, T., L. Magoulas, X. Jiang, A. Walsh, E. Rubin, J.L. Breslow, and A.R. Tall. 1995. Decreased early atherosclerotic lesions in hypertriglyceridemic mice expressing cholesteryl ester transfer protein transgene. J. Clin. Invest. 96: 2071-2074.
34. Hirano, K., S. Yamashita, Y. Kuga, N. Sakai, S. Nozahi, S. Kihara, T. Arai, K. Yanagi, S. Takami, M. Menju, M. Ishigami, Y. Yoshida, K. Kameda-Takemura, K. Hayashi, and Y. Matsuzawa. 1995. Atherosclerotic disease in marked hyperalphalipoproteinemia: Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase. Arterioscler. Thromb. Vasc. Biol. 15:1849-1856.
35. Agellon, L.B., A. Walsh, T. Hayck, P. Moulin, X. Jiang, S.A. Shelanski, J.L. Breslow, and A.R. Tall. 1991. Reduced high density lipoprotein cholesterol in human cholesteryl ester transfer protein transgenic mice. J. Biol. Chem. 266: 10796-10801.
36. Ohta, T.R., R. Nakamura, K. Takata, Y. Saito, S. Yamashita, S. Horiuchi, and I. Matsuda. 1995. Structural and functional differences of subspecies of apoA-I-containing lipoprotein in patients with plasma cholesteryl ester transfer protein deficiency. J. Lipid Res. 36:696-704.
37. Marotti, K.R., C.K. Castle, T.P. Boyle, A.H. Lin, R.W. Murray, and G.W. Melchior. 1993. Severe atherosclerosis in transgenic mice expressing similar cholesteryl ester transfer protein. Nature (Lond.). 364:73-75.
38. Ho, Y., N. Azrolan, A. O'Connell, A. Walsh, and J.L. Breslow. 1990. Hypertriglyceridemia as a result of human apolipoprotein CIII gene expression in transgenic mice. Science (Wash. DC). 249:790-793.
39. Dammerman, N., L.A. Sandkuijl, J. Halas, W. Chung, and J.L. Breslow. 1993. An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3′ untranslated region polymorphisms. Proc. Natl. Acad. Sci. USA. 90:4562-4566.
40. Hayek, T., N. Azrolan, R.B. Verdery, A. Walsh, T. Chajek-Shaul, L.B. Agellon, A.R. Tall, and J.L. Breslow. 1993. Hypertriglyceridemia and cholesteryl ester transfer interact to dramatically alter high-density lipoprotein levels, particle sizes and metabolism. J. Clin. Invest. 92:1143-1152.