Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers

Journal of Lipid Research

Volumn 46, Issue 1, 2005, Pages 68-75

  Plat, Jogchum ^a   Bragt, Marjolijn C E ^a   Mensink, Ronald P ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Atherosclerosis; Genetics; Nutrition

Indexed keywords

ABC TRANSPORTER; ATP BINDING CASSETTE TRANSPORTER G5; ATP BINDING CASSETTE TRANSPORTER G8; CAMPESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PHYTOSTEROL; SITOSTEROL; STANOL ESTER; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATHEROSCLEROSIS; DIETARY INTAKE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN EXPERIMENT; LIPID BLOOD LEVEL; LIPID METABOLISM; MALE; NORMAL HUMAN; PRIORITY JOURNAL; STATISTICAL ANALYSIS; VOLUNTEER;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTEROL; DIET; ENERGY METABOLISM; FEMALE; GENOTYPE; HUMANS; LIPIDS; LIPOPROTEINS; MALE; MIDDLE AGED; PHYTOSTEROLS; POLYMORPHISM, GENETIC; SITOSTEROLS;

EID: 11244310636     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: 10.1194/jlr.M400210-JLR200     Document Type: Article

References (33)

1. Ostlund, R. E., J. B. McGill, C. M. Zeng, D. F. Covey, J. Stearns, W. F. Stenson, and C. A. Spilburg. 2002. Gastrointestinal absorption and plasma kinetics of soy Delta(5)-phytosterols and phytostanols in humans. Am. J. Physiol. Endocrinol. Metab. 282: E911-E916.
2. Bosner, M. S., L. G. Lange, W. F. Stenson, and R. E. Ostlund, Jr. 1999. Percent cholesterol absorption in normal women and men quantified with dual stable isotopic tracers and negative ion mass spectrometry. J Lipid Res. 40: 302-308.
3. Yu, L., R. E. Hammer, J. Li-Hawkins, K. von Bergmann, D. Lutjo hann. J. C. Cohen, and H. H. Hobbs. 2002. Disruption of ABCG5 and ABCG8 in mice reveals their crucial role in biliary cholesterol secretion. Proc. Natl. Acad. Sci. USA. 99: 16237-16242.
4. Graf, G. A., W. P. Li, R. D. Gerard, I. Gelissen, A. White, J. C. Cohen, and H. H. Hobbs. 2002. Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. J. Clin. Invest. 110: 659-669.
5. Lee, M., K. Lu, and S. Patel. 2001. Genetic basis of sitosterolemia. Curr. Opin. Lipidol 12: 141-149.
6. Berge, K. E., H. Tian, G. A. Graf, L. Yu, N. V. Grishin, J. Schultz, P. Kwiterovich, B. Shan, R. Barnes, and H. H. Hobbs. 2000. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 290: 1771-1775.
7. Lee, M. H., K. Lu, S. Hazard, H. Yu, S. Shulenin, H. Hidaka, H. Kojima, R. Allikmets, N. Sakuma, R. Pegoraro, A. K. Srivastava, G. Salen, M. Dean, and S. B. Patel. 2001. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat. Genet. 27: 79-83.
8. Bhattacharyya, A. K., and W. Connor. 1974. β-Sitosterolemia and xanthomatosis. J. Clin. Invest. 53: 1033-1043.
9. Björkhem, I., and K. M. Boberg. 1994. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In The Metabolic Basis of Inherited Diseases. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw Hill, New York. 2073-2100.
10. Miettinen, T. A., T. E. Strandberg, and H. Gylling. 2000. Noncholesterol sterols and cholesterol lowering by long-term simvastatin treatment in coronary patients: relation to basal serum cholestanol. Arlerioscler. Thromb. Vasc. Biol. 20: 1340-1346.
11. Miettinen, T. A., H. Gylling, N. Lindbohm, T. E. Miettinen, A. Radhakrishnan, A. Rajaratnam, and H. Relas. 2003. Serum non-cholesterol sterols during inhibition of cholesterol synthesis by statins. J. Lab. Clin. Med. 141: 131-137.
12. Miettinen, T. A., H. Gylling, T. Strandberg, and S. Sarna. 1998. Baseline serum cholestanol as predictor of recurrent coronary events in subgroup of Scandinavian Simvastatin Survival Trial. BMJ. 316: 1127-1130.
13. Sudhop, T., B. M. Gottwald, and K. Von Bergmann. 2002. Serum plant sterols as a potential risk factor for coronary heart disease. Metabolism. 51: 1519-1521.
14. Glueck, C. J., J. Speirs, T. Tracey, P. Streicher, E. Illig, and J. Vandegrift. 1991. Relationships of serum plant sterols (phytosterols) and cholesterol in 595 hypercholesterolemic subjects, and familial aggregation of phytosterols, cholesterol, and premature coronary heart disease in hypercholesterolemic probands and their first degree relatives. Metabolism. 40: 842-848.
15. Hubacek, J. A., K. E. Berge, J. C. Cohen, and H. H. Hobbs. 2001. Mutations in ATP-binding cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum. Mutat. 452: 1-5.
16. Berge, K. E., K. Von Bergmann, D. Lutjohann, R. Guerra, S. M. Grundy, H. H. Hobbs, and J. C. Cohen. 2002. Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. J. Lipid Res. 43: 486-494.
17. Yu, L., J. Li-Hawkins, R. E. Hammer, K. E. Berge J. D. Horton J. C. Cohen, and H. H. Hobbs. 2002. Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J. Clin. Invest. 110: 671-680.
18. Yu, L., J. York, K. Von Bergmann, D. Lutjohann, J. C. Cohen, and H. H. Hobbs. 2003. Stimulation of cholesterol excretion by the liver X receptor agonist requires ATP-binding cassette transporters G5 and G8. J. Biol. Chem. 278: 15565-15570.
19. Plosch, T., V. W. Bloks, Y. Terasawa, S. Berdy, K. Siegler, F. van der Sluijs, I. P. Kema, A. K. Groen, B. Shan, F. Kuipers, M. Schwarz, and M. Schwarz. 2004. Sitosterolemia in ABC-transporter G5 deficient mice is aggravated on activation of the liver-X receptor. Gastroenterology. 126: 290-300.
20. Plat, J., and R. P. Mensink. 2000. Vegetable oil based versus wood based stanol ester mixtures: effects on serum lipids and hemostatic factors in non-hypercholesterolemic subjects. Atherosclerosis. 148: 101-112.
21. Plat J., and R. P. Mensink. 2001. Effects of diets enriched with two different plant stanol ester mixtures on plasma ubiquinol-10 and fat-soluble antioxidant concentrations. Metabolism. 50: 520-529.
22. Plat, J., E. N. M. van Onselen, and R. P. Mensink. 1999. Dietary plant stanol ester mixtures: effects on safety parameters and erythrocyte membrane fatty acid composition in non hypercholesterolemic subjects. Eur. Heart J. 1 (Suppl.): 58-63.
23. Plat, J., and R. P. Mensink. 2002. Relationship of genetic variation in genes encoding apolipoprotein A-IV, scavenger receptor BI, HMG-CoA reductase, CETP and apolipoprotein E with cholesterol metabolism and the response to plant stanol ester consumption. Eur. J. Clin. Invest. 32: 242-250.
24. Statview manual (for the Macintosh). 1992. Statview Abacus Concepts, Inc: Berkeley, CA.
25. Kempen, H. J. M., J. F. C. Glatz, J. A. Gevers Leuven, H. A. van der Voort, and M. B. Katan. 1988. Serum lathosterol concentration is an indicator of whole-body cholesterol synthesis in humans. J. Lipid Res. 29: 1149-1155.
26. Li, J. H., A. B. Awad, C. S. Fink, Y. Wu, M. Trevisan, and P. Muti. 2001. Measurement variability of plasma beta-sitosterol and campesterol, two new biomarkers for cancer prevention. Eur. J. Cancer Prev. 10: 245-249.
27. Weststrate, J. A., and G. W. Meijer. 1998. Plant sterol-enriched margarines and reduction of plasma total- and LDL-cholesterol concentrations in normocholesterolaemic and mildly hypercholesterolaemic subjects. Eur. J. Clin. Nutr. 52: 334-343.
28. Gylling, H., R. Radhakrishnan, and T. A. Miettinen. 1997. Reduction of serum cholesterol in postmenopausal women with previous myocardial infarction and cholesterol malabsorption induced by dietary sitostanol ester margarine: women and dietary sitostanol. Circulation. 96: 4226-4231.
29. Miettinen, T. A., P. Puska, H. Gylling, H. Vanhanen, and E. Vaitiainen. 1995. Reduction of serum cholesterol with sitostanol-ester margarine in a mildly hypercholesterolemic population. N. Engl. J. Med. 333: 1308-1312.
30. Weggemans, R. M., P. L. Zock, E. S. Tai, J. M. Ordovas, H. O. F. Molhuizen, and M. B. Katan. 2002. ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans. Clin. Genet. 62: 226-229.
31. Kajinami, K., M. E. Brousseau, C. Nartsupha, J. M. Ordovas, and E. J. Schaefer. 2004. ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin. J. Lipid Res. 45: 653-656.
32. Gylling, H., M. Hallikainen, J. Pihlajamaki, J. Agren, M. Laakso, R. A. Ratjaratnam, R. Rauramaa, and T. A. Miettinen. 2004. Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity. J. Lipid Res. 45: 1660-1665.
33. Naumann, E., J. Plat, and R. P. Mensink. 2003. Changes in serum concentrations of non-cholesterol sterols and lipoproteins in healthy subjects do not depend on the ratio of plant stanols in the diet. J. Nutr. 133: 2741-2747.