ABCG5/G8 polymorphisms and markers of cholesterol metabolism: Systematic review and meta-analysis

Journal of Lipid Research

Volumn 51, Issue 10, 2010, Pages 3016-3023

  Jakulj, Lily ^a   Vissers, Maud N ^a   Tanck, Michael W T ^a   Hutten, Barbara A ^a   Stellaard, Frans ^b   Kastelein, John J P ^a   Dallinga Thie, Geesje M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

LDL cholesterol; Plant sterol; Polymorphism

Indexed keywords

ABC TRANSPORTER G5; ABC TRANSPORTER G8; ALANINE; ASPARTIC ACID; CAMPESTEROL; CARRIER PROTEIN; CHOLESTANOL; CHOLESTEROL; CYSTEINE; GLUTAMIC ACID; GLUTAMINE; HISTIDINE; LATHOSTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LYSINE; SITOSTEROL; THREONINE; TYROSINE; UNCLASSIFIED DRUG; VALINE;

ARTICLE; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERCHOLESTEROLEMIA; PRIORITY JOURNAL; SYSTEMATIC REVIEW;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTEROL; GENOTYPE; HUMANS; HYPERCHOLESTEROLEMIA; LIPOPROTEINS; MIDDLE AGED; POLYMORPHISM, GENETIC;

EID: 77956848690     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M008128     Document Type: Article

References (43)

1. Davies, J. P., B. Levy, and Y. A. Ioannou. 2000. Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1. Genomics. 65: 137-145.
2. Graf, G. A., L. Yu, W. P. Li, R. Gerard, P. L. Tuma, J. C. Cohen, and H. H. Hobbs. 2003. ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. J. Biol. Chem. 278: 48275-48282.
3. 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.
4. 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.
5. 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.
6. Hubacek, J. A., K. E. Berge, J. Stefkova, J. Pitha, Z. Skodova, V. Lanska, and R. Poledne. 2004. Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. Physiol. Res. 53: 395-401.
7. Weggemans, R. M., P. L. Zock, E. S. Tai, J. M. Ordovas, H. O. Molhuizen, and M. B. Katan. 2002. ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans. Clin. Genet. 62: 226-229.
8. Chen, Z. C., S. J. Shin, K. K. Kuo, K. D. Lin, M. L. Yu, and P. J. Hsiao. 2008. Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance. J. Hum. Genet. 53: 757-763.
9. Herron, K. L., M. M. McGrane, D. Waters, I. E. Lofgren, R. M. Clark, J. M. Ordovas, and M. L. Fernandez. 2006. The ABCG5 polymorphism contributes to individual responses to dietary cholesterol and carotenoids in eggs. J. Nutr. 136: 1161-1165.
10. Zhao, H. L., A. H. Houweling, C. A. Vanstone, S. Jew, E. A. Trautwein, G. S. Duchateau, and P. J. Jones. 2008. Genetic variation in ABC G5/G8 and NPC1L1 impact cholesterol response to plant sterols in hypercholesterolemic men. Lipids. 43: 1155-1164.
11. Plat, J., M. C. Bragt, and R. P. Mensink. 2005. Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers. J. Lipid Res. 46: 68-75.
12. 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.
13. Gylling, H., M. Hallikainen, J. Pihlajamaki, J. Agren, M. Laakso, R. A. Rajaratnam, 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.
14. Miettinen, T. A., R. S. Tilvis, and Y. A. Kesaniemi. 1990. Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population. Am. J. Epidemiol. 131: 20-31.
15. Rudkowska, I., and P. J. Jones. 2008. Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease. Nutr. Rev. 66: 343-348.
16. Friedewald, W. T., R. I. Levy, and D. S. Fredrickson. 1972. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin. Chem. 18: 499-502.
17. Ahmida, H. S., P. Bertucci, L. Franzo, R. Massoud, C. Cortese, A. Lala, and G. Federici. 2006. Simultaneous determination of plasmatic phytosterols and cholesterol precursors using gas chromatography-mass spectrometry (GC-MS) with selective ion monitoring (SIM). J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 842: 43-47.
18. Miettinen, T. A., H. Gylling, N. Lindbohm, T. E. Miettinen, R. A. Rajaratnam, and H. Relas. 2003. Serum noncholesterol sterols during inhibition of cholesterol synthesis by statins. J. Lab. Clin. Med. 141: 131-137.
19. Minelli, C., J. R. Thompson, K. R. Abrams, A. Thakkinstian, and J. Attia. 2008. How should we use information about HWE in the meta-analyses of genetic association studies? Int. J. Epidemiol. 37: 136-146.
20. DerSimonian, R., and N. Laird. 1986. Meta-analysis in clinical trials. Control. Clin. Trials. 7: 177-188.
21. Viturro, E., M. de Oya, M. A. Lasuncion, L. Gorgojo, J. M. Moreno, M. Benavente, B. Cano, and C. Garces. 2006. Cholesterol and saturated fat intake determine the effect of polymorphisms at ABCG5/ABCG8 genes on lipid levels in children. Genet. Med. 8: 594-599.
22. Koeijvoets, K. C., J. B. van der Net, G. M. Dallinga-Thie, E. W. Steyerberg, R. P. Mensink, J. J. Kastelein, E. J. Sijbrands, and J. Plat. 2009. ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia. Atherosclerosis. 204: 453-458.
23. Junyent, M., K. L. Tucker, C. E. Smith, A. Garcia-Rios, J. Mattei, C. Q. Lai, L. D. Parnell, and J. M. Ordovas. 2009. The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study. J. Lipid Res. 50: 565-573.
24. Jiang, Z. Y., P. Parini, G. Eggertsen, M. A. Davis, H. Hu, G. J. Suo, S. D. Zhang, L. L. Rudel, T. Q. Han, and C. Einarsson. 2008. Increased expression of LXR alpha, ABCG5, ABCG8, and SR-BI in the liver from normolipidemic, nonobese Chinese gallstone patients. J. Lipid Res. 49: 464-472.
25. Kuo, K. K., S. J. Shin, Z. C. Chen, Y. H. Yang, J. F. Yang, and P. J. Hsiao. 2008. Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease. Br. J. Surg. 95: 1005-1011.
26. Kajinami, K., M. E. Brousseau, J. M. Ordovas, and E. J. Schaefer. 2004. Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterol-lowering response to atorvastatin. Atherosclerosis. 175: 287-293.
27. Acalovschi, M., A. Ciocan, O. Mostean, S. Tirziu, E. Chiorean, H. Keppeler, R. Schirin-Sokhan, and F. Lammert. 2006. Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones. Eur. J. Intern. Med. 17: 490-494. (Pubitemid 44708739)
28. Miwa, K., A. Inazu, J. Kobayashi, T. Higashikata, A. Nohara, M. Kawashiri, S. Katsuda, M. Takata, J. Koizumi, and H. Mabuchi. 2005. ATP-binding cassette transporter G8 M429V polymorphism as a novel genetic marker of higher cholesterol absorption in hypercholesterolaemic Japanese subjects. Clin. Sci. (Lond.). 109: 183-188.
29. Wang, Y., Z. Y. Jiang, J. Fei, L. Xin, Q. Cai, Z. H. Jiang, Z. G. Zhu, T. Q. Han, and S. D. Zhang. 2007. ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males. Clin. Chim. Acta. 384: 80-85.
30. Caamano, J. M., A. Pacheco, F. Lanas, and L. A. Salazar. 2008. Single nucleotide polymorphisms in ABCG5 and ABCG8 genes in Chilean subjects with polygenic hypercholesterolemia and controls. Clin. Chem. Lab. Med. 46: 1581-1585.
31. Santosa, S., I. Demonty, A. H. Lichtenstein, J. M. Ordovas, and P. J. Jones. 2007. Single nucleotide polymorphisms in ABCG5 and ABCG8 are associated with changes in cholesterol metabolism during weight loss. J. Lipid Res. 48: 2607-2613.
32. Rudkowska, I., S. S. AbuMweis, C. Nicolle, and P. J. Jones. 2008. Association between non-responsiveness to plant sterol intervention and polymorphisms in cholesterol metabolism genes: a casecontrol study. Appl. Physiol. Nutr. Metab. 33: 728-734.
33. Chan, D. C., G. F. Watts, P. H. Barrett, A. J. Whitfield, and F. M. van Bockxmeer. 2004. ATP-binding cassette transporter G8 gene as a determinant of apolipoprotein B-100 kinetics in overweight men. Arterioscler. Thromb. Vasc. Biol. 24: 2188-2191.
34. Law, M. R., N. J. Wald, and S. G. Thompson. 1994. By how much and how quickly does reduction in serum cholesterol concentration lower risk of ischaemic heart disease? BMJ. 308: 367-372.
35. Aulchenko, Y. S., S. Ripatti, I. Lindqvist, D. Boomsma, I. M. Heid, P. P. Pramstaller, B. W. Penninx, A. C. Janssens, J. F. Wilson, T. Spector, et al. 2009. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat. Genet. 41: 47-55.
36. Kathiresan, S., C. J. Willer, G. M. Peloso, S. Demissie, K. Musunuru, E. E. Schadt, L. Kaplan, D. Bennett, Y. Li, T. Tanaka, et al. 2009. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat. Genet. 41: 56-65.
37. Ma, L., J. Yang, H. B. Runesha, T. Tanaka, L. Ferrucci, S. Bandinelli, and Y. Da. 2010. Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. BMC Med. Genet. 11: 55.
38. Teupser, D., R. Baber, U. Ceglarek, M. Scholz, T. Illig, C. Gieger, L. M. Holdt, A. Leichtler, K. H. Greiser, D. Huster, et al. 2010. Genetic regulation of serum phytosterol levels and risk of coronary artery disease. Circ. Cardiovasc. Genet. Epub ahead of print. June 7, 2010; doi:10.1161/CIRCGENETICS. 109.907873.
39. Grunhage, F., M. Acalovschi, S. Tirziu, M. Walier, T. F. Wienker, A. Ciocan, O. Mosteanu, T. Sauerbruch, and F. Lammert. 2007. Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. Hepatology. 46: 793-801.
40. Buch, S., C. Schafmayer, H. Volzke, C. Becker, A. Franke, H. von Eller-Eberstein, C. Kluck, I. Bassmann, M. Brosch, F. Lammert, et al. 2007. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat. Genet. 39: 995-999.
41. Gylling, H., M. Hallikainen, R. A. Rajaratnam, P. Simonen, J. Pihlajamaki, M. Laakso, and T. A. Miettinen. 2009. The metabolism of plant sterols is disturbed in postmenopausal women with coronary artery disease. Metabolism. 58: 401-407.
42. Matthan, N. R., M. Pencina, J. M. LaRocque, P. F. Jacques, R. B. D'Agostino, E. J. Schaefer, and A. H. Lichtenstein. 2009. Alterations in cholesterol absorption/synthesis markers characterize Framingham offspring study participants with CHD. J. Lipid Res. 50: 1927-1935.
43. Minelli, C., J. R. Thompson, K. R. Abrams, A. Thakkinstian, and J. Attia. 2005. The choice of a genetic model in the meta-analysis of molecular association studies. Int. J. Epidemiol. 34: 1319-1328. (Pubitemid 41819539)