ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia

Atherosclerosis

Volumn 204, Issue 2, 2009, Pages 453-458

  Koeijvoets, Kristel C M C ^a   van der Net, Jeroen B ^a   Dallinga Thie, Geesje M ^b   Steyerberg, Ewout W ^a   Mensink, Ronald P ^c   Kastelein, John J P ^b   Sijbrands, Eric J G ^a   Plat, Jogchum ^c  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

ABCG8; Cardiovascular disease; Familial hypercholesterolemia; Plant sterols; Polymorphism

Indexed keywords

HIGH DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN;

ABCG8 GENE; ADULT; ARTICLE; CARDIOVASCULAR RISK; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CARDIOVASCULAR DISEASES; CHOLESTEROL; CORONARY ARTERY DISEASE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; NETHERLANDS; PHENOTYPE; POLYMORPHISM, GENETIC; PROPORTIONAL HAZARDS MODELS; RETROSPECTIVE STUDIES; RISK ASSESSMENT; RISK FACTORS;

EID: 67349098480     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2008.09.018     Document Type: Article

References (28)

1. Salen G., Ahrens E.H., and Grundy S.M. Metabolism of β-sitosterol in man. J Clin Invest 49 (1970) 952-967
2. Berge K.E., Tian H., Graf G.A., et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 290 (2000) 1771-1775
3. Lee M.-H., Lu K., Hazard S., et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet 27 (2001) 79-83
4. Bhattacharyya A.K., and Connor W.E. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 53 (1974) 1033-1043
5. Salen G., Shefer S., Nguyen L.., et al. Sitosterolemia. J Lipid Res 33 (1992) 945-955
6. Glueck C.J., Speirs J., Tracy T.., et al. Relationship of serum plant sterols (phytosterols) and cholesterol in 595 hypercholesterolemic subjects, and familial aggregation of phytosterols, cholesterol, and premature coronary heart disease in hyperphytosterolemic probands and their first-degree relatives. Metabolism 40 (1991) 842-848
7. Rajaratnam R.A., Gylling H., and Miettinen T.A. Independent association of serum squalene and noncholesterol sterols with coronary artery disease in postmenopausal women. J Am Coll Cardiol 35 (2000) 1185-1191
8. Sudhop T., Gottwald B.M., and von Bergmann K. Serum plant sterols as a potential risk factor for coronary heart disease. Metabolism 51 (2002) 1519-1521
9. Assmann G., Cullen P., Erbey J.., et al. Plasma sitosterol elevations are associated with an increased incidence of coronary events in men: Results of a nested case-control analysis of the Prospective Cardiovascular Munster (PROCAM) study. Nutr Metab Cardiovasc Dis 16 (2006) 13-21
10. Miettinen T.A., Railo M., Lepäntalo M., and Gylling H. Plant sterols in serum and in atherosclerotic plaques of patients undergoing carotid endarterectomy. J Am Coll Cardiol 45 (2005) 1794-1801
11. Helske S., Miettinen T., Gylling H., et al. Accumulation of cholesterol precursors and plant sterols in human stenotic aortic valves. J Lipid Res 49 (2008) 1511-1518
12. Wilund K.R., Yu L., Xu F., et al. No association between plasma levels of plant sterols and atherosclerosis in mice and men. Arterioscler Thromb Vasc Biol 24 (2004) 2326-2332
13. Fassbender K., Lütjohann D., Dik M.G., et al. Moderately elevated plant sterol levels are associated with reduced cardiovascular risk-The LASA study. Atherosclerosis 196 (2008) 283-288
14. Pinedo S., Vissers M.N., Von Bergmann K., et al. Plasma levels of plant sterols and the risk of coronary artery disease: the prospective EPIC-Norfolk Population Study. J Lipid Res 48 (2007) 139-144
15. Berge K.E., von Bergmann K., Lutjohann D., et al. Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. J Lipid Res 43 (2002) 486-494
16. Gylling H., Hallikainen M., Pihlajamäki J., et al. Polymorphisms in the ABCG5 and ABCG8 gene associate with cholesterol absorption and insulin sensitivity. J Lipid Res 45 (2004) 1660-1665
17. Plat J., Bragt M.C.E., and Mensink M.P. Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers. J Lipid Res 46 (2005) 68-75
18. Kajinami K., Brousseau M.E., Nartsupha C., Ordovas J.M., and Schaefer E.J. ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin. J Lipid Res 45 (2004) 653-656
19. Hubacek J.A., Berge K.E., Stefkova J., et al. Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. Physiol Res 53 (2004) 395-501
20. Ordovas J.M. Cardiovascular disease genetics: a long and winding road. Curr Opin Lipidol 14 1 (2003) 47-54
21. Brown M.S., and Goldstein J.L. A receptor-mediated pathway for cholesterol homeostasis. Science 232 (1986) 34-47
22. Sijbrands E.J., Westendorp R.G., Paola Lombardi M., et al. Additional risk factors influence excess mortality in heterozygous familial hypercholesterolemia. Atherosclerosis 149 (2000) 421-425
23. Lu H., Higashikata T., Inazu A., et al. Association of estrogen receptor-α gene polymorphisms with coronary artery disease in patients with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 22 (2002) 821-827
24. Jansen A.C.M., van Aalst-Cohen E.S., Tanck M.W., et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolemia: data in 2400 patients. J Intern Med 256 (2004) 482-490
25. Jansen A.C., van Aalst-Cohen E.S., Hutten B.A.., et al. Guidelines were developed for data collection from medical records for use in retrospective analyses. J Clin Epidemiol 58 (2005) 269-274
26. Fouchier S.W., Defesche J.C., Umans-Eckenhausen M.A.W., and Kastelein J.J.P. The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet 109 (2001) 602-615
27. Zhang X., Shu X.O., Gao Y.-T., et al. Soy food consumption is associated with lower risk of coronary heart diseases in Chinese women. J Nutr 133 (2003) 2874-2878
28. Grundy S.M. Stanol esters as a component of maximal dietary therapy in the National Cholesterol Education Program Adult Treatment Panel III report. Am J Cardiol 96 suppl (2005) 47D-50D