Genetics of familial combined hyperlipidemia and risk of coronary heart disease

Human Molecular Genetics

Volumn 13, Issue REV. ISS. 1, 2004, Pages

  Shoulders, Carol C ^a   Jones, E L ^a   Naoumova, R P ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN A4; APOLIPOPROTEIN B; APOLIPOPROTEIN C3; HIGH DENSITY LIPOPROTEIN; INSULIN; LIPID; LOW DENSITY LIPOPROTEIN; VERY LOW DENSITY LIPOPROTEIN;

ATHEROSCLEROSIS; CAUSE OF DEATH; CHROMOSOME 11P; CHROMOSOME 16Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 6Q; CHROMOSOME 8P; CHROMOSOME REPLICATION; DEVELOPED COUNTRY; DIABETES MELLITUS; DISEASE PREDISPOSITION; DISEASE TRANSMISSION; ETHNOLOGY; FAMILIAL HYPERLIPEMIA; FEMALE; GENE CLUSTER; GENE LOCUS; GENETIC ANALYSIS; GENOME ANALYSIS; HEREDITY; HUMAN; HYPERTENSION; INSULIN RESISTANCE; ISCHEMIC HEART DISEASE; LIFESTYLE; LINKAGE ANALYSIS; MALE; METABOLIC SYNDROME X; NUCLEOTIDE SEQUENCE; OBESITY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; RISK ASSESSMENT; RISK REDUCTION; STROKE;

ALLELES; APOLIPOPROTEINS; CHOLESTEROL; CHROMOSOMES, HUMAN; COHORT STUDIES; CORONARY DISEASE; DNA REPLICATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERLIPIDEMIAS; LINKAGE (GENETICS); TRIGLYCERIDES;

EID: 1842612038     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (129)

1. Murray, C.J. and Lopez, A.D. (1997) Alternative projections of mortality and disability by cause 1990-2020: Global Burden of Disease Study. Lancet, 349, 1498-1504.
2. Fuster, V. (1999) Epidemic of cardiovascular disease and stroke: The three main challenges. Presented at the 71st scientific sessions of the American Heart Association. Dallas, Texas. Circulation, 99, 1132-1137.
3. Austin, M.A., McKnight, B., Edwards, K.L., Bradley, C.M., McNeely, M.J., Psaty, B.M., Brunzell, J.D. and Motulsky, A.G. (2000) Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation, 101, 2777-2782.
4. Voors-Pette, C. and de Bruin, T.W. (2001) Excess coronary heart disease in Familial Combined Hyperlipidemia, in relation to genetic factors and central obesity. Atherosclerosis, 157, 481-489.
5. Hopkins, P.N., Heiss, G., Ellison, R.C., Province, M.A., Pankow, J.S., Eckfeldt, J.H. and Hunt, S.C. (2003) Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: A case-control comparison from the National Heart, Lung, and Blood Institute Family Heart Study. Circulation, 108, 519-523.
6. Goldstein, J.L., Schrott, H.G., Hazzard, W.R., Bierman, E.L. and Motulsky, A.G. (1973) Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J. Clin. Invest., 52, 1544-1568.
7. Nikkila, E.A. and Aro, A. (1973) Family study of serum lipids and lipoproteins in coronary heart-disease. Lancet, 1, 954-959.
8. Rose, H.G., Kranz, P., Weinstock, M., Juliano, J. and Haft, J.I. (1973) Inheritance of combined hyperlipoproteinemia: Evidence for a new lipoprotein phenotype. Am. J. Med., 54, 148-160.
9. Aouizerat, B.E., Allayee, H., Cantor, R.M., Davis, R.C., Lanning, C.D., Wen, P.Z., Dallinga-Thie, G.M., de Bruin, T.W., Rotter, J.I. and Lusis, A.J. (1999) A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. Am. J. Hum. Genet., 65, 397-412.
10. Pajukanta, P., Terwilliger, J.D., Perola, M., Hiekkalinna, T., Nuotio, I., Ellonen, P., Parkkonen, M., Hartiala, J., Ylitalo, K., Pihlajamaki, J. et al. (1999) Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels. Am. J. Hum. Genet., 64, 1453-1463.
11. Pei, W., Baron, H., Muller-Myhsok, B., Knoblauch, H., Al Yahyaee, S.A., Hui, R., Wu, X., Liu, L., Busjahn, A., Luft, F.C. et al. (2000) Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families. Clin. Genet., 57, 29-34.
12. Naoumova, R.P., Bonney, S.A., Eichenbaum-Voline, S., Patel, H.N., Jones, B., Jones, E.L., Amey, J., Colilla, S., Neuwirth, C.K., Allotey, R. et al. (2003) Confirmed locus on chromosome 11p and candidate Loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipidemia. Arterioscler Thromb. Vasc. Biol., 23, 2070-2077.
13. Heath, R.B., Karpe, F., Milne, R.W., Burdge, G.C., Wootton, S.A. and Frayn, K.N. (2003) Selective partitioning of dietary fatty acids into the VLDL TG pool in the early postprandial period. J. Lipid Res., 44, 2065-2072.
14. Wiggins, D. and Gibbons, G.F. (1996) Origin of hepatic very-low-density lipoprotein triacylglycerol: The contribution of cellular phospholipid. Biochem. J., 320 (Pt 2), 673-679.
15. Parks, E.J. and Hellerstein, M.K. (2000) Carbohydrate-induced hypertriacylglycerolemia: Historical perspective and review of biological mechanisms. Am. J. Clin. Nutr., 71, 412-433.
16. Haemmerle, G., Zimmermann, R. and Zechner, R. (2003) Letting lipids go: Hormone-sensitive lipase. Curr. Opin. Lipidol., 14, 289-297.
17. Rader, D.J. (2003) Regulation of reverse cholesterol transport and clinical implications. Am. J. Cardiol., 92, 42J-49J.
18. Chinetti, G., Gbaguidi, F.G., Griglio, S., Mallat, Z., Antonucci, M., Poulain, P., Chapman, J., Fruchart, J.C., Tedgui, A., Najib-Fruchart, J. et al. (2000) CLA-1/SR-BI is expressed in atherosclerotic lesion macrophages and regulated by activators of peroxisome proliferator-activated receptors. Circulation, 101, 2411-2417.
19. Brewer, H.B., Jr, Santamarina-Fojo, S. (2003) Clinical significance of high-density lipoproteins and the development of atherosclerosis: Focus on the role of the adenosine triphosphate-binding cassette protein A1 transporter. Am. J. Cardiol., 92, 10K-16K.
20. Austin, M.A., King, M.C., Vranizan, K.M. and Krauss, R.M. (1990) Atherogenic lipoprotein phenotype. A proposed genetic marker for coronary heart disease risk. Circulation, 82, 495-506.
21. Krauss, R.M. (1994) Heterogeneity of plasma low-density lipoproteins and atherosclerosis risk. Curr. Opin. Lipidol., 5, 339-349.
22. Packard, C.J., Demant, T., Stewart, J.P., Bedford, D., Caslake, M.J., Schwertfeger, G., Bedynek, A., Shepherd, J. and Seidel, D. (2000) Apolipoprotein B metabolism and the distribution of VLDL and LDL subfractions. J. Lipid Res., 41, 305-318.
23. Kwiterovich, P.O., Jr (2002) Clinical relevance of the biochemical, metabolic, and genetic factors that influence low-density lipoprotein heterogeneity. Am. J. Cardiol., 90, 30i-47i.
24. Deeb, S.S., Zambon, A., Carr, M.C., Ayyobi, A.F. and Brunzell, J.D. (2003) Hepatic lipase and dyslipidemia: Interactions among genetic variants, obesity, gender, and diet. J. Lipid Res., 44, 1279-1286.
25. Hokanson, J.E., Krauss, R.M., Albers, J.J., Austin, M.A. and Brunzell, J.D. (1995) LDL physical and chemical properties in familial combined hyperlipidemia. Arterioscler. Thromb. Vasc. Biol., 15, 452-459.
26. Ayyobi, A.F., McGladdery, S.H., McNeely, M.J., Austin, M.A., Motulsky, A.G. and Brunzell, J.D. (2003) Small, dense LDL and elevated apolipoprotein B are the common characteristics for the three major lipid phenotypes of familial combined hyperlipidemia. Arterioscler. Thromb. Vasc. Biol., 23, 1289-1294.
27. Gagnon, F., Jarvik, G.P., Motulsky, A.G., Deeb, S.S., Brunzell, J.D. and Wijsman, E.M. (2003) Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment. Hum. Genet., 113, 522-533.
28. Pajukanta, P., Allayee, H., Krass, K.L., Kuraishy, A., Soro, A., Lilja, H.E., Mar, R., Taskinen, M.R., Nuotio, I., Laakso, M. et al. (2003) Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q. Am. J. Hum. Genet., 72, 903-917.
29. Soro, A., Jauhiainen, M., Ehnholm, C. and Taskinen, M.R. (2003) Determinants of low HDL levels in familial combined hyperlipidemia. J. Lipid Res., 44, 1536-1544.
30. McNeely, M.J., Edwards, K.L., Marcovina, S.M., Brunzell, J.D., Motulsky, A.G. and Austin, M.A. (2001) Lipoprotein and apolipoprotein abnormalities in familial combined hyperlipidemia: A 20-year prospective study. Atherosclerosis, 159, 471-481.
31. Lussier-Cacan, S., Xhignesse, M., Kessling, A.M., Davignon, J. and Sing, C.F. (1999) Sources of variation in plasma lipid and lipoprotein traits in a sample selected for health. Am. J. Epidemiol., 150, 1229-1237.
32. Carr, M.C., Hokanson, J.E., Zambon, A., Deeb, S.S., Barrett, P.H., Purnell, J.Q. and Brunzell, J.D. (2001) The contribution of intraabdominal fat to gender differences in hepatic lipase activity and low/high density lipoprotein heterogeneity. J. Clin. Endocrinol. Metab., 86, 2831-2837.
33. Carmena, R., Ascaso, J.F. and Real, J.T. (2001) Impact of obesity in primary hyperlipidemias. Nutr. Metab. Cardiovasc. Dis., 11, 354-359.
34. Denke, M.A. (2001) Connections between obesity and dyslipidaemia. Curr. Opin. Lipidol., 12, 625-628.
35. Ordovas, J.M. (2002) Gene-diet interaction and plasma lipid responses to dietary intervention. Biochem. Soc. Trans., 30, 68-73.
36. Chan, D.C., Watts, G.F. and Barrett, P.H. (2003) Comparison of intraperitoneal and posterior subcutaneous abdominal adipose tissue compartments as predictors of VLDL apolipoprotein B-100 kinetics in overweight/obese men. Diabetes Obes. Metab., 5, 202-206.
37. Nieves, D.J., Coop, M., Retzlaff, B., Walden, C.E., Brunzell, J.D., Knopp, R.H. and Kahn, S.E. (2003) The atherogenic lipoprotein profile associated with obesity and insulin resistance is largely attributable to intra-abdominal fat. Diabetes, 52, 172-179.
38. Aitman, T.J., Godsland, I.F., Farren, B., Crook, D., Wong, H.J. and Scott, J. (1997) Defects of insulin action on fatty acid and carbohydrate metabolism in familial combined hyperlipidemia. Arterioscler. Thromb. Vasc. Biol., 17, 748-754.
39. Schonfeld, G., Aguilar-Salina, C. and Elias, N. (1998) Role of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors ('statins') in familial combined hyperlipidemia. Am. J. Cardiol., 81, 43B-46B.
40. Meijssen, S., Cabezas, M.C., Twickler, T.B., Jansen, H. and Erkelens, D.W. (2000) In vivo evidence of defective postprandial and postabsorptive free fatty acid metabolism in familial combined hyperlipidemia. J. Lipid Res., 41, 1096-1102.
41. Gagne, E., Genest, J., Jr, Zhang, H., Clarke, L.A. and Hayden, M.R. (1994) Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler. Thromb., 14, 1250-1257.
42. Reymer, P.W., Groenemeyer, B.E., Gagne, E., Miao, L., Appelman, E.E., Seidel, J.C., Kromhout, D., Bijvoet, S.M., van de, O.K., Bruin, T. et al. (1995) A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum. Mol. Genet., 4, 1543-1549.
43. Pajukanta, P., Nuotio, I., Terwilliger, J.D., Porkka, K.V., Ylitalo, K., Pihlajamaki, J., Suomalainen, A.J., Syvanen, A.C., Lehtimaki, T., Viikari, J.S. et al. (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat. Genet., 18, 369-373.
44. Aouizerat, B.E., Allayee, H., Bodnar, J., Krass, K.L., Peltonen, L., de Bruin, T.W., Rotter, J.I. and Lusis, A.J. (1999) Novel genes for familial combined hyperlipidemia. Curr. Opin. Lipidol., 10, 113-122.
45. Demacker, P.N., Veerkamp, M.J., Bredie, S.J., Marcovina, S.M., de Graaf, J. and Stalenhoef, A.F. (2000) Comparison of the measurement of lipids and lipoproteins versus assay of apolipoprotein B for estimation of coronary heart disease risk: A study in familial combined hyperlipidemia. Atherosclerosis, 153, 483-490.
46. Sniderman, A.D., Castro, C.M., Ribalta, J., Carmena, R., de Bruin, T.W., de Graaf, J., Erkelens, D.W., Humphries, S.E., Masana, L., Real, J.T. et al. (2002) A proposal to redefine familial combined hyperlipidaemia - third workshop on FCHL held in Barcelona from 3 to 5 May 2001, during the scientific sessions of the European Society for Clinical Investigation. Eur. J. Clin. Invest., 32, 71-73.
47. Rincon Jarero, J.P., Aguilar-Salinas, C.A., Guillen-Pineda, L.E., Gomez-Perez, F.J. and Rull, J.A. (2002) Lack of agreement between the plasma lipid-based criteria and apoprotein B for the diagnosis of familial combined hyperlipidemia in members of familial combined hyperlipidemia kindreds. Metabolism, 51, 218-224.
48. Ayyobi, A.F. and Brunzell, J.D. (2003) Lipoprotein distribution in the metabolic syndrome, type 2 diabetes mellitus, and familial combined hyperlipidemia. Am. J. Cardiol., 92, 27J-33J.
49. Lewis, G.F. (2002) Lipid metabolism. Curr. Opin. Lipidol., 13, 97-99.
50. World Health Organization (1985) Diabetes Mellitus: Report of a WHO Study Group. WHO, Geneva.
51. Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (2001) Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA, 285, 2486-2497.
52. Sattar, N., Gaw, A., Scherbakova, O., Ford, I., O'Reilly, D.S., Haffner, S.M., Isles, C., Macfarlane, P.W., Packard, C.J., Cobbe, S.M. et al. (2003) Metabolic syndrome with and without C-reactive protein as a predictor of coronary heart disease and diabetes in the West of Scotland Coronary Prevention Study. Circulation, 108, 414-419.
53. Meigs, J.B., Wilson, P.W., Nathan, D.M., D'Agostino, R.B., Sr., Williams, K. and Haffner, S.M. (2003) Prevalence and characteristics of the metabolic syndrome in the San Antonio Heart and Framingham Offspring Studies. Diabetes, 52, 2160-2167.
54. Eurlings, P.M., van der Kallen, C.J., Geurts, J.M., van Greevenbroek, M.M. and de Bruin, T.W. (2001) Genetic dissection of familial combined hyperlipidemia. Mol. Genet. Metab., 74, 98-104.
55. McCarthy, M.I. (2003) Growing evidence for diabetes susceptibility genes from genome scan data. Curr. Diab. Rep., 3, 159-167.
56. Klos, K.L., Kardia, S.L., Ferrell, R.E., Turner, S.T., Boerwinkle, E. and Sing, C.F. (2001) Genome-wide linkage analysis reveals evidence of multiple regions that influence variation in plasma lipid and apolipoprotein levels associated with risk of coronary heart disease. Arterioscler. Thromb. Vasc. Biol., 21, 971-978.
57. Reed, D.R., Nanthakumar, E., North, M., Bell, C. and Price, R.A. (2001) A genome-wide scan suggests a locus on chromosome 1q21-q23 contributes to normal variation in plasma cholesterol concentration. J. Mol. Med., 79, 262-269.
58. Coon, H., Myers, R.H., Borecki, I.B., Arnett, D.K., Hunt, S.C., Province, M.A., Djousse, L. and Leppert, M.F. (2000) Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus. The NHLBI Family Heart Study. Arterioscler. Thromb. Vasc. Biol., 20, 2275-2280.
59. Altmuller, J., Palmer, L.J., Fischer, G., Scherb, H. and Wjst, M. (2001) Genomewide scans of complex human diseases: True linkage is hard to find. Am. J. Hum. Genet., 69, 936-950.
60. Mori, Y., Otabe, S., Dina, C., Yasuda, K., Populaire, C., Lecoeur, C., Vatin, V., Durand, E., Hara, K., Okada, T. et al. (2002) Genome-wide search for type 2 diabetes in Japanese affected sib-pairs confirms susceptibility genes on 3q, 15q, and 20q and identifies two new candidate Loci on 7p and 11p. Diabetes, 51, 1247-1255.
61. Florez, J.C., Hirschhorn, J. and Altshuler, D. (2003) The inherited basis of diabetes mellitus: Implications for the genetic analysis of complex traits. A. Rev. Genomics Hum. Genet., 4, 257-291.
62. Bell, G.I. and Polonsky, K.S. (2001) Diabetes mellitus and genetically programmed defects in beta-cell function. Nature, 414, 788-791.
63. Kahn, S.E. (2003) The relative contributions of insulin resistance and beta-cell dysfunction to the pathophysiology of Type 2 diabetes. Diabetologia, 46, 3-19.
64. Soro, A., Pajukanta, P., Lilja, H.E., Ylitalo, K., Hiekkalinna, T., Perola, M., Cantor, R.M., Viikari, J.S., Taskinen, M.R. and Peltonen, L. (2002) Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families. Am. J. Hum. Genet., 70, 1333-1340.
65. Mahaney, M.C., Almasy, L., Rainwater, D.L., VandeBerg, J.L., Cole, S.A., Hixson, J.E., Blangero, J. and MacCluer, J.W. (2003) A quantitative trait locus on chromosome 16q influences variation in plasma HDL-C levels in Mexican Americans. Arterioscler. Thromb. Vasc. Biol., 23, 339-345.
66. Amos, C.I., Elston, R.C., Srinivasan, S.R., Wilson, A.F., Cresanta, J.L., Ward, L.J. and Berenson, G.S. (1987) Linkage and segregation analyses of apolipoproteins A1 and B, and lipoprotein cholesterol levels in a large pedigree with excess coronary heart disease: The Bogalusa Heart Study. Genet. Epidemiol., 4, 115-128.
67. Heiba, I.M., DeMeester, C.A., Xia, Y.R., Diep, A., George, V.T., Amos, C.I., Srinivasan, S.R., Berenson, G.S., Elston, R.C. and Lusis, A.J. (1993) Genetic contributions to quantitative lipoprotein traits associated with coronary artery disease: Analysis of a large pedigree from the Bogalusa Heart Study. Am. J. Med. Genet., 47, 875-883.
68. Bu, X., Warden, C.H., Xia, Y.R., De Meester, C., Puppione, D.L., Teruya, S., Lokensgard, B., Daneshmand, S., Brown, J., Gray, R.J. et al. (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.
69. Assmann, G., Cullen, P. and Schulte, H. (1998) The Munster Heart Study (PROCAM). Results of follow-up at 8 years. Eur. Heart J., 19 (Suppl. A), A2-A11.
70. Wilson, P.W., D'Agostino, R.B., Levy, D., Belanger, A.M., Silbershatz, H. and Kannel, W.B. (1998) Prediction of coronary heart disease using risk factor categories. Circulation, 97, 1837-1847.
71. Tanne, D., Koren-Morag, N., Graff, E. and Goldbourt, U. (2001) Blood lipids and first-ever ischemic stroke/transient ischemic attack in the Bezafibrate Infarction Prevention (BIP) Registry: High triglycerides constitute an independent risk factor. Circulation, 104, 2892-2897.
72. Jonas, A. (1998) Regulation of lecithin cholesterol acyltransferase activity. Prog. Lipid Res., 37, 209-234.
73. Jonas, A. (2000) Lecithin cholesterol acyltransferase. Biochim. Biophys. Acta, 1529, 245-256.
74. Santamarina-Fojo, S., Lambert, G., Hoeg, J.M. and Brewer, H.B. Jr (2000) Lecithin-cholesterol acyltransferase: Role in lipoprotein metabolism, reverse cholesterol transport and atherosclerosis. Curr. Opin. Lipidol., 11, 267-275.
75. Ribalta, J., La Ville, A.E., Vallve, J.C., Girona, J. and Masana, L. (1998) Evidence against alterations in Lecithin: Cholesterol acyltransferase (LCAT) activity in familial combined hyperlipidemia. Atherosclerosis, 138, 383-389.
76. Hoeg, J.M., Santamarina-Fojo, S., Berard, A.M., Cornhill, J.F., Herderick, E.E., Feldman, S.H., Haudenschild, C.C., Vaisman, B.L., Hoyt, R.F. Jr, Demosky, S.J. Jr et al. (1996) Overexpression of lecithin: cholesterol acyltransferase in transgenic rabbits prevents diet-induced atherosclerosis. Proc. Natl Acad. Sci. USA, 93, 11448-11453.
77. Hoeg, J.M., Vaisman, B.L., Demosky, S.J. Jr, Meyn, S.M., Talley, G.D., Hoyt, R.F. Jr, Feldman, S., Berard, A.M., Sakai, N., Wood, D. et al. (1996) Lecithin: cholesterol acyltransterase overexpression generates hyperalpha-lipoproteinemia and a nonatherogenic lipoprotein pattern in transgenic rabbits. J. Biol. Chem., 271, 4396-4402.
78. Blankenberg, S., Rupprecht, H.J., Bickel, C., Jiang, X.C., Poirier, O., Lackner, K.J., Meyer, J., Cambien, F. and Tiret, L. (2003) Common genetic variation of the cholesteryl ester transfer protein gene strongly predicts future cardiovascular death in patients with coronary artery disease. J. Am. Coll. Cardiol., 41, 1983-1989.
79. Freeman, D.J., Samani, N.J., Wilson, V., McMahon, A.D., Braund, P.S., Cheng, S., Caslake, M.J., Packard, C.J. and Gaffney, D. (2003) A polymorphism of the cholesteryl ester transfer protein gene predicts cardiovascular events in non-smokers in the West of Scotland Coronary Prevention Study. Eur. Heart J., 24, 1833-1842.
80. Kuivenhoven, J.A., Jukema, J.W., Zwinderman, A.H., de Knijff, P., McPherson, R., Bruschke, A.V., Lie, K.I. and Kastelein, J.J. (1998) The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group. New Engl. J. Med, 338, 86-93.
81. Carlquist, J.F., Muhlestein, J.B., Horne, B.D., Hart, N.I., Bair, T.L., Molhuizen, H.O. and Anderson, J.L. (2003) The cholesteryl ester transfer protein Taq1B gene polymorphism predicts clinical benefit of statin therapy in patients with significant coronary artery disease. Am. Heart J., 146, 1007-1014.
82. Lu, H., Inazu, A., Moriyama, Y., Higashikata, T., Kawashiri, M.A., Yu, W., Huang, Z., Okamura, T. and Mabuchi, H. (2003) Haplotype analyses of cholesteryl ester transfer protein gene promoter: A clue to an unsolved mystery of TaqIB polymorphism. J. Mol. Med., 81, 246-255.
83. Klerkx, A.H., Tanck, M.W., Kastelein, J.J., Molhuizen, H.O., Jukema, J.W., Zwinderman, A.H. and Kuivenhoven, J.A. (2003) Haplotype analysis of the CETP gene: Not TaqIB, but the closely linked -629C → A polymorphism and a novel promoter variant are independently associated with CETP concentration. Hum. Mol. Genet., 12, 111-123.
84. Tanck, M.W., Klerkx, A.H., Jukema, J.W., de Knijff, P., Kastelein, J.J. and Zwinderman, A.H. (2003) Estimation of multilocus haplotype effects using weighted penalised log-likelihood: Analysis of five sequence variations at the cholesteryl ester transfer protein gene locus. Ann. Hum. Genet., 67, 175-184.
85. Winkelmann, B.R., Hoffmann, M.M., Nauck, M., Kumar, A.M., Nandabalan, K., Judson, R.S., Boehm, B.O., Tall, A.R., Ruano, G. and Marz, W. (2003) Haplotypes of the cholesteryl ester transfer protein gene predict lipid-modifying response to statin therapy. Pharmacogenom. J., 3, 284-296.
86. Freeman, D.J., Griffin, B.A., Holmes, A.P., Lindsay, G.M., Gaffney, D., Packard, C.J. and Shepherd, J. (1994) Regulation of plasma HDL cholesterol and subfraction distribution by genetic and environmental factors. Associations between the TaqI B RFLP in the CETP gene and smoking and obesity. Arterioscler. Thromb., 14, 336-344.
87. Hannuksela, M.L., Liinamaa, M.J., Kesaniemi, Y.A. and Savolainen, M.J. (1994) Relation of polymorphisms in the cholesteryl ester transfer protein gene to transfer protein activity and plasma lipoprotein levels in alcohol drinkers. Atherosclerosis, 110, 35-44.
88. Fumeron, F., Betoulle, D., Luc, G., Behague, I., Ricard, S., Poirier, O., Jemaa, R., Evans, A., Arveiler, D., Marques-Vidal, P. et al. (1995) Alcohol intake modulates the effect of a polymorphism of the cholesteryl ester transfer protein gene on plasma high density lipoprotein and the risk of myocardial infarction. J. Clin. Invest., 96, 1664-1671.
89. Bernard, S., Moulin, P., Lagrost, L., Picard, S., Elchebly, M., Ponsin, G., Chapuis, F. and Berthezene, F. (1998) Association between plasma HDL-cholesterol concentration and Taq1B CETP gene polymorphism in non-insulin-dependent diabetes mellitus. J. Lipid Res., 39, 59-65.
90. Gudnason, V., Kakko, S., Nicaud, V., Savolainen, M.J., Kesaniemi, Y.A., Tahvanainen, E. and Humphries, S. (1999) Cholesteryl ester transfer protein gene effect on CETP activity and plasma high-density lipoprotein in European populations. The EARS Group. Eur. J. Clin. Invest., 29, 116-128.
91. Corbex, M., Poirier, O., Fumeron, F., Betoulle, D., Evans, A., Ruidavets, J.B., Arveiler, D., Luc, G., Tiret, L. and Cambien, F. (2000) Extensive association analysis between the CETP gene and coronary heart disease phenotypes reveals several putative functional polymorphisms and gene-environment interaction. Genet. Epidemiol., 19, 64-80.
92. Noone, E., Roche, H.M., Black, I., Tully, A.M. and Gibney, M.J. (2000) Effect of postprandial lipaemia and Taq 1B polymorphism of the cholesteryl ester transfer protein (CETP) gene on CETP mass, activity, associated lipoproteins and plasma lipids. Br. J. Nutr., 84, 203-209.
93. Ordovas, J.M., Cupples, L.A., Corella, D., Otvos, J.D., Osgood, D., Martinez, A., Lahoz, C., Coltell, O., Wilson, P.W. and Schaefer, E.J. (2000) Association of cholesteryl ester transfer protein-TaqIB polymorphism with variations in lipoprotein subclasses and coronary heart disease risk: The Framingham study. Arterioscler. Thromb. Vasc. Biol., 20, 1323-1329.
94. Goto, A., Sasai, K., Suzuki, S., Fukutomi, T., Ito, S., Matsushita, T., Okamoto, M., Suzuki, T., Itoh, M., Okumura-Noji, K. et al. (2001) Cholesteryl ester transfer protein and atherosclerosis in Japanese subjects: A study based on coronary angiography. Atherosclerosis, 159, 153-163.
95. Hsu, L.A., Ko, Y.L., Hsu, K.H., Ko, Y.H. and Lee, Y.S. (2002) Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese. Hum. Genet., 110, 57-63.
96. Liu, S., Schmitz, C., Stampfer, M.J., Sacks, F., Hennekens, C.H., Lindpaintner, K., Ridker, P.M. and Liu, S. (2002) A prospective study of TaqIB polymorphism in the gene coding for cholesteryl ester transfer protein and risk of myocardial infarction in middle-aged men. Atherosclerosis, 161, 469-474.
97. Talmud, P.J., Hawe, E., Robertson, K., Miller, G.J., Miller, N.E. and Humphries, S.E. (2002) Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein A1 concentrations in healthy middle-aged men. Ann. Hum. Genet., 66, 111-124.
98. Ikewaki, K., Mabuchi, H., Teramoto, T., Yamada, N., Oikawa, S., Sasaki, J., Takata, K. and Saito, Y. (2003) Association of cholesteryl ester transfer protein activity and TaqIB polymorphism with lipoprotein variations in Japanese subjects. Metabolism, 52, 1564-1570.
99. Thompson, J.F., Lira, M.E., Durham, L.K., Clark, R.W., Bamberger, M.J. and Milos, P.M. (2003) Polymorphisms in the CETP gene and association with CETP mass and HDL levels. Atherosclerosis, 167, 195-204.
100. Dachet, C., Poirier, O., Cambien, F., Chapman, J. and Rouis, M. (2000) New functional promoter polymorphism, CETP/-629, in cholesteryl ester transfer protein (CETP) gene related to CETP mass and high density lipoprotein cholesterol levels: Role of Sp1/Sp3 in transcriptional regulation. Arterioscler. Thromb. Vasc. Biol., 20, 507-515.
101. Le Goff, W., Guerin, M., Petit, L., Chapman, M.J. and Thillet, J. (2003) Regulation of human CETP gene expression: Role of SP1 and SP3 transcription factors at promoter sites -690, -629, and -37. J. Lipid Res., 44, 1322-1331.
102. Dallinga-Thie, G.M., Linde-Sibenius, T.M., Rotter, J.I., Cantor, R.M., Bu, X., Lusis, A.J. and de Bruin, T.W. (1997) Complex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes. J. Clin Invest., 99, 953-961.
103. Endo, K., Yanagi, H., Araki, J., Hirano, C., Yamakawa-Kobayashi, K. and Tomura, S. (2002) Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren. Hum. Genet., 111, 570-572.
104. Nabika, T., Nasreen, S., Kobayashi, S. and Masuda, J. (2002) The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese. Atherosclerosis, 165, 201-204.
105. Pennacchio, L.A., Olivier, M., Hubacek, J.A., Krauss, R.M., Rubin, E.M. and Cohen, J.C. (2002) Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. Hum. Mol. Genet., 11, 3031-3038.
106. Ribalta, J., Figuera, L., Fernandez-Ballart, J., Vilella, E., Castro, C.M., Masana, L. and Joven, J. (2002) Newly identified apolipoprotein AV gene predisposes to high plasma triglycerides in familial combined hyperlipidemia. Clin. Chem., 48, 1597-1600.
107. Talmud, P.J., Hawe, E., Martin, S., Olivier, M., Miller, G.J., Rubin, E.M., Pennacchio, L.A. and Humphries, S.E. (2002) Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. Hum. Mol. Genet., 11, 3039-3046.
108. Horinek, A., Vrablik, M., Ceska, R., Adamkova, V., Poledne, R. and Hubacek, J.A. (2003) T-1131 → C polymorphism within the apolipoprotein AV gene in hypertriglyceridemic individuals. Atherosclerosis, 167, 369-370.
109. Vrablik, M., Horinek, A., Ceska, R., Adamkova, V., Poledne, R. and Hubacek, J.A. (2003) Ser19 → Trp polymorphism within the apolipoprotein AV gene in hypertriglyceridaemic people. J. Med. Genet., 40, e105.
110. Ward, K.J., Shields, B., Knight, B., Salzmann, M.B., Hattersley, A.T. and Frayling, T.M. (2003) Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy. Lipids Health Dis., 2, 9.
111. Eichenbaum-Voline, S., Olivier, M., Jones, E.L., Naoumova, R.P., Jones, B., Gau, B., Patel, H.N., Seed, M., Betteridge, D.J., Galton, D.J. et al. (2004) Linkage and Association Between Distinct Variants of the APOA1/C3/A4/A5 Gene Cluster and Familial Combined Hyperlipidemia. Arterioscler. Thromb. Vasc. Biol., 24, 167-174.
112. Todorov, A.A., Borecki, I.B. and Rao, D.C. (1997) Linkage analysis of complex traits using affected sibpairs: Effects of single-locus approximations on estimates of the required sample size. Genet. Epidemiol., 14, 389-401.
113. Sinsheimer, J.S., McKenzie, C.A., Keavney, B. and Lange, K. (2001) SNPs and snails and puppy dogs' tails: Analysis of SNP haplotype data using the gamete competition model. Ann. Hum. Genet., 65, 483-490.
114. Groenendijk, M., Cantor, R.M., de Bruin, T.W. and Dallinga-Thie, G.M. (2001) The apoAI-CIII-AIV gene cluster. Atherosclerosis, 157, 1-11.
115. Prieur, X., Coste, H. and Rodriguez, J.C. (2003) The human apolipoprotein AV gene is regulated by peroxisome proliferator-activated receptor-alpha and contains a novel farnesoid X-activated receptor response element. J. Biol. Chem., 278, 25468-25480.
116. Jong, M.C., Hofker, M.H. and Havekes, L.M. (1999) Role of ApoCs in lipoprotein metabolism: Functional differences between ApoC1, ApoC2, and ApoC3. Arterioscler. Thromb. Vasc. Biol., 19, 472-484.
117. Pennacchio, L.A., Olivier, M., Hubacek, J.A., Cohen, J.C., Cox, D.R., Fruchart, J.C., Krauss, R.M. and Rubin, E.M. (2001) An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science, 294, 169-173.
118. Zannis, V.I., Kan, H.Y., Kritis, A., Zanni, E.E. and Kardassis, D. (2001) Transcriptional regulatory mechanisms of the human apolipoprotein genes in vitro and in vivo. Curr. Opin. Lipidol., 12, 181-207.
119. Vu-Dac, N., Gervois, P., Jakel, H., Nowak, M., Bauge, E., Dehondt, H., Staels, B., Pennacchio, L.A., Rubin, E.M., Fruchart-Najib, J. et al. (2003) Apolipoprotein A5, a crucial determinant of plasma triglyceride levels, is highly responsive to peroxisome proliferator-activated receptor alpha activators. J. Biol. Chem., 278, 17982-17985.
120. Fredenrich, A., Giroux, L.M., Tremblay, M., Krimbou, L., Davignon, J. and Cohn, J.S. (1997) Plasma lipoprotein distribution of apoC-III in normolipidemic and hypertriglyceridemic subjects: Comparison of the apoC-III to apoE ratio in different lipoprotein fractions. J. Lipid Res., 38, 1421-1432.
121. Sacks, F.M., Alaupovic, P., Moye, L.A., Cole, T.G., Sussex, B., Stampfer, M.J., Pfeffer, M.A. and Braunwald, E. (2000) VLDL, apolipoproteins B, CIII, and E, and risk of recurrent coronary events in the Cholesterol and Recurrent Events (CARE) trial. Circulation, 102, 1886-1892.
122. Lee, S.J., Campos, H., Moye, L.A. and Sacks, F.M. (2003) LDL containing apolipoprotein CIII is an independent risk factor for coronary events in diabetic patients. Arterioscler. Thromb. Vasc. Biol., 23, 853-858.
123. Olivieri, O., Bassi, A., Stranieri, C., Trabetti, E., Martinelli, N., Pizzolo, F., Girelli, D., Friso, S., Pignatti, P.F. and Corrocher, R. (2003) Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease. J. Lipid Res., 44, 2374-2381.
124. Onat, A., Hergenc, G., Sansoy, V., Fobker, M., Ceyhan, K., Toprak, S. and Assmann, G. (2003) Apolipoprotein C-III, a strong discriminant of coronary risk in men and a determinant of the metabolic syndrome in both genders. Atherosclerosis, 168, 81-89.
125. Nielsen, H., Engelbrecht, J., Brunak, S. and von Heijne, G. (1997) Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites. Protein Eng., 10, 1-6.
126. Chan, D., Ho, M.S. and Cheah, K.S. (2001) Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease. J. Biol. Chem., 276, 7992-7997.
127. Siggaard, C., Rittig, S., Corydon, T.J., Andreasen, P.H., Jensen, T.G., Andresen, B.S., Robertson, G.L., Gregersen, N., Bolund, L. and Pedersen, E.B. (1999) Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J. Clin. Endocrinol. Metab., 84, 2933-2941.
128. Allayee, H., Krass, K.L., Pajukanta, P., Cantor, R.M., van der Kallen, C.J., Mar, R., Rotter, J.I., de Bruin, T.W., Peltonen, L. and Lusis, A.J. (2002) Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia. Circul. Res., 90, 926-931.
129. Bosse, Y., Perusse, L., Despres, J.P., Lamarche, B., Chagnon, Y.C., Rice, T., Rao, D.C., Bouchard, C. and Vohl, M.C. (2003) Evidence for a major quantitative trait locus on chromosome 17q21 affecting low-density lipoprotein peak particle diameter. Circulation, 107, 2361-2368.