Association of heterozygous familial hypercholesterolemia with smaller HDL particle size

Atherosclerosis

Volumn 190, Issue 2, 2007, Pages 429-435

  Hogue, Jean Charles ^a   Lamarche, Benoît ^b   Gaudet, Daniel ^c   Tremblay, André J ^a   Després, Jean Pierre ^d   Bergeron, Jean ^a   Gagné, Claude ^a   Couture, Patrick ^a  

^a LAVAL UNIVERSITY   (Canada)

^b LAVAL UNIVERSITY   (Canada)

^c Centre Hospitalier de la Sagamie   (Canada)

^d LAVAL UNIVERSITY   (Canada)

Author keywords

Atherosclerosis; Familial hypercholesterolemia; HDL particle size; LDL receptor; Lipids; Lipoprotein

Indexed keywords

ANTILIPEMIC AGENT; HIGH DENSITY LIPOPROTEIN;

ADULT; ARTICLE; ATHEROSCLEROSIS; CARDIOVASCULAR RISK; CONTROLLED STUDY; DISEASE PREDISPOSITION; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLE REGRESSION; PARTICLE SIZE; PATHOPHYSIOLOGY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL;

ADULT; ANTILIPEMIC AGENTS; BODY MASS INDEX; FEMALE; HETEROZYGOTE DETECTION; HUMANS; HYPERCHOLESTEROLEMIA; LIPOPROTEINS, HDL; MALE; MIDDLE AGED; QUEBEC; RECEPTORS, LDL; REFERENCE VALUES; TRIGLYCERIDES;

EID: 33846102062     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2006.02.023     Document Type: Article

References (48)

1. Goldstein J.L., Hobbs H.H., and Brown M.S. Familial hypercholesterolemia. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic basis of inherited diseases (2000), McGraw-Hill Publishing Co., New York 2863-2913
2. Gagné C., Moorjani S., Brun D., Toussaint M., and Lupien P.J. Heterozygous familial hypercholesterolemia. Relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women. Atherosclerosis 34 (1979) 13-24
3. Moorjani S., Roy M., Gagné C., et al. Homozygous familial hypercholesterolemia among French Canadians in Quebec Province. Arteriosclerosis 9 (1989) 211-216
4. Couture P., Vohl M.C., Gagné C., et al. Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians. Hum Mutat Suppl. 1 (1998) S226-S231
5. Assouline L., Leitersdorf E., Lambert M., et al. Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies. Hum Mutat 9 (1997) 555-562
6. Gordon T., Castelli W.P., Hjortland M.C., Kannel W.B., and Dawber T.R. High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study. Am J Med 62 (1977) 707-714
7. Lamarche B., Moorjani S., Cantin B., et al. Associations of HDL2 and HDL3 subfractions with ischemic heart disease in men. Prospective results from the Quebec Cardiovascular Study. Arterioscler Thromb Vasc Biol 17 (1997) 1098-1105
8. Blanche P.J., Gong E.L., Forte T.M., and Nichols A.V. Characterization of human high-density lipoproteins by gradient gel electrophoresis. Biochim Biophys Acta 665 (1981) 408-419
9. Stein O., and Stein Y. Atheroprotective mechanisms of HDL. Atherosclerosis 144 (1999) 285-301
10. Stampfer M.J., Sacks F.M., Salvini S., Willett W.C., and Hennekens C.H. A prospective study of cholesterol, apolipoproteins, and the risk of myocardial infarction. N Engl J Med 325 (1991) 373-381
11. Roheim P.S., and Asztalos B.F. Clinical significance of lipoprotein size and risk for coronary atherosclerosis. Clin Chem 41 (1995) 147-152
12. Soedamah-Muthu S.S., Chang Y.F., Otvos J., Evans R.W., and Orchard T.J. Lipoprotein subclass measurements by nuclear magnetic resonance spectroscopy improve the prediction of coronary artery disease in Type 1 diabetes. A prospective report from the Pittsburgh Epidemiology of Diabetes Complications Study. Diabetologia 46 (2003) 674-682
13. Sweetnam P.M., Bolton C.H., Yarnell J.W., et al. Associations of the HDL2 and HDL3 cholesterol subfractions with the development of ischemic heart disease in British men. The Caerphilly and Speedwell Collaborative Heart Disease Studies. Circulation 90 (1994) 769-774
14. Salonen J.T., Salonen R., Seppanen K., Rauramaa R., and Tuomilehto J. HDL, HDL2, and HDL3 subfractions, and the risk of acute myocardial infarction. A prospective population study in eastern Finnish men. Circulation 84 (1991) 129-139
15. Williams P.T., Krauss R.M., Vranizan K.M., et al. Associations of lipoproteins and apolipoproteins with gradient gel electrophoresis estimates of high density lipoprotein subfractions in men and women. Arterioscler Thromb 12 (1992) 332-340
16. Schultz J.R., Verstuyft J.G., Gong E.L., Nichols A.V., and Rubin E.M. Protein composition determines the anti-atherogenic properties of HDL in transgenic mice. Nature 365 (1993) 762-764
17. Lamarche B., Rashid S., and Lewis G.F. HDL metabolism in hypertriglyceridemic states: an overview. Clin Chim Acta 286 (1999) 145-161
18. Ruel I.L., Gaudet D., Perron P., et al. Determinants of HDL particle size in patients with the null (P207L) or defective (D9N) mutation in the lipoprotein lipase gene: the Quebec LipD Study. Atherosclerosis 162 (2002) 269-276
19. Asztalos B.F., Brousseau M.E., McNamara J.R., et al. Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease. Atherosclerosis 156 (2001) 217-225
20. Lagrost L., Gandjini H., Athias A., et al. Influence of plasma cholesteryl ester transfer activity on the LDL and HDL distribution profiles in normolipidemic subjects. Arterioscler Thromb 13 (1993) 815-825
21. Hogue J.C., Lamarche B., Gaudet D., et al. Relationship between cholesteryl ester transfer protein and LDL heterogeneity in familial hypercholesterolemia. J Lipid Res 45 (2004) 1077-1083
22. de Grooth G.J., Smilde T.J., Van Wissen S., et al. The relationship between cholesteryl ester transfer protein levels and risk factor profile in patients with familial hypercholesterolemia. Atherosclerosis 173 (2004) 261-267
23. Hobbs H.H., Brown M.S., Russell D.W., Davignon J., and Goldstein J.L. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med 317 (1987) 734-737
24. Leitersdorf E., Tobin E.J., Davignon J., and Hobbs H.H. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 85 (1990) 1014-1023
25. Simard J., Moorjani S., Vohl M.C., et al. Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians. Hum Mol Genet 3 (1994) 1689-1691
26. Hobbs H.H., Brown M.S., and Goldstein J.L. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1 (1992) 445-466
27. Lemieux I., Almeras N., Mauriege P., et al. Prevalence of 'hypertriglyceridemic waist' in men who participated in the Quebec Health Survey: association with atherogenic and diabetogenic metabolic risk factors. Can J Cardiol 18 (2002) 725-732
28. Cardin A.D., Witt K.R., Chao J., et al. Degradation of apolipoprotein B-100 of human plasma low density lipoproteins by tissue and plasma kallikreins. J Biol Chem 259 (1984) 8522-8528
29. Moorjani S., Dupont A., Labrie F., et al. Increase in plasma high-density lipoprotein concentration following complete androgen blockage in men with prostatic carcinoma. Metabolism 36 (1987) 244-250
30. Pérusse M., Pascot A., Després J.P., Couillard C., and Lamarche B. A new method for HDL particle sizing by polyacrylamide gradient gel electrophoresis using whole plasma. J Lipid Res 42 (2001) 1331-1334
31. Carr M.C., Ayyobi A.F., Murdoch S.J., Deeb S.S., and Brunzell J.D. Contribution of hepatic lipase, lipoprotein lipase, and cholesteryl ester transfer protein to LDL and HDL heterogeneity in healthy women. Arterioscler Thromb Vasc Biol 22 (2002) 667-673
32. Vohl M., Couture P., Moorjani S., et al. Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians. Hum Mutat 6 (1995) 243-246
33. Hixson J.E., and Vernier D.T. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31 (1990) 545-548
34. Syvanne M., Ahola M., Lahdenpera S., et al. High density lipoprotein subfractions in non-insulin-dependent diabetes mellitus and coronary artery disease. J Lipid Res 36 (1995) 573-582
35. Asztalos B.F., Roheim P.S., Milani R.L., et al. Distribution of ApoA-I-containing HDL subpopulations in patients with coronary heart disease. Arterioscler Thromb Vasc Biol 20 (2000) 2670-2676
36. Pascot A., Lemieux I., Prud'homme D., et al. Reduced HDL particle size as an additional feature of the atherogenic dyslipidemia of abdominal obesity. J Lipid Res 42 (2001) 2007-2014
37. Deckelbaum R.J., Granot E., Oschry Y., Rose L., and Eisenberg S. Plasma triglyceride determines structure-composition in low and high density lipoproteins. Arteriosclerosis 4 (1984) 225-231
38. Guérin M., Egger P., Soudant C., et al. Cholesteryl ester flux from HDL to VLDL-1 is preferentially enhanced in type IIB hyperlipidemia in the postprandial state. J Lipid Res 43 (2002) 1652-1660
39. Packard C.J., and Shepherd J. Lipoprotein heterogeneity and apolipoprotein B metabolism. Arterioscler Thromb Vasc Biol 17 (1997) 3542-3556
40. Horowitz B.S., Goldberg I.J., Merab J., et al. Increased plasma and renal clearance of an exchangeable pool of apolipoprotein A-I in subjects with low levels of high density lipoprotein cholesterol. J Clin Invest 91 (1993) 1743-1752
41. Zhong S., Goldberg I.J., Bruce C., et al. Human ApoA-II inhibits the hydrolysis of HDL triglyceride and the decrease of HDL size induced by hypertriglyceridemia and cholesteryl ester transfer protein in transgenic mice. J Clin Invest 94 (1994) 2457-2467
42. Lamarche B., Uffelman K.D., Carpentier A., et al. Triglyceride enrichment of HDL enhances in vivo metabolic clearance of HDL apo A-I in healthy men. J Clin Invest 103 (1999) 1191-1199
43. Kinoshita M., Teramoto T., Shimazu N., et al. CETP is a determinant of serum LDL-cholesterol but not HDL-cholesterol in healthy Japanese. Atherosclerosis 120 (1996) 75-82
44. Witte D.R., Taskinen M.R., Perttunen-Nio H., et al. Study of agreement between LDL size as measured by nuclear magnetic resonance and gradient gel electrophoresis. J Lipid Res 45 (2004) 1069-1076
45. Brinton E.A., Eisenberg S., and Breslow J.L. Human HDL cholesterol levels are determined by apoA-I fractional catabolic rate, which correlates inversely with estimates of HDL particle size. Effects of gender, hepatic and lipoprotein lipases, triglyceride and insulin levels, and body fat distribution. Arterioscler Thromb 14 (1994) 707-720
46. Frénais R., Ouguerram K., Maugeais C., et al. Apolipoprotein A-I kinetics in heterozygous familial hypercholesterolemia: a stable isotope study. J Lipid Res 40 (1999) 1506-1511
47. Li Z., McNamara J.R., Fruchart J.C., et al. Effects of gender and menopausal status on plasma lipoprotein subspecies and particle sizes. J Lipid Res 37 (1996) 1886-1896
48. Tan C.E., Foster L., Caslake M.J., et al. Relations between plasma lipids and postheparin plasma lipases and VLDL and LDL subfraction patterns in normolipemic men and women. Arterioscler Thromb Vasc Biol 15 (1995) 1839-1848