ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels

PLoS ONE

Volumn 7, Issue 5, 2012, Pages

  Li, Qing ^a   Yin, Rui Xing ^a   Wei, Xian Liang ^a   Yan, Ting Ting ^a   Aung, Lynn Htet Htet ^a   Wu, Dong Feng ^a   Wu, Jin Zhen ^a   Lin, Wei Xiong ^b   Liu, Cheng Wu ^a   Pan, Shang Ling ^a  

^a GUANGXI MEDICAL UNIVERSITY   (China)

^b Medical Scientific Research Center   (China)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B; GLUCOSE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; ABC TRANSPORTER; ABCG5 PROTEIN, HUMAN; ABCG8 PROTEIN, HUMAN; LIPOPROTEIN;

ABCG5 GENE; ABCG8 GENE; ADULT; AGE; AGED; ALCOHOL CONSUMPTION; ARTICLE; BODY MASS; CHOLESTEROL BLOOD LEVEL; CIGARETTE SMOKING; CONTROLLED STUDY; DIASTOLIC BLOOD PRESSURE; ENVIRONMENTAL FACTOR; ETHNIC DIFFERENCE; ETHNIC GROUP; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC DIFFERENCE; GENETIC PARAMETERS; GENOTYPE; GLUCOSE BLOOD LEVEL; HUMAN; LIPID BLOOD LEVEL; LIPOPROTEIN BLOOD LEVEL; MALE; POPULATION RESEARCH; SEX RATIO; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC BLOOD PRESSURE; TRIACYLGLYCEROL BLOOD LEVEL; WAIST CIRCUMFERENCE; ADOLESCENT; BLOOD; CHINA; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; ENVIRONMENT; ETHNOLOGY; GENETICS; MIDDLE AGED; RANDOMIZED CONTROLLED TRIAL; SEX DIFFERENCE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ATP-BINDING CASSETTE TRANSPORTERS; CHINA; ENVIRONMENT; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; LIPIDS; LIPOPROTEINS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX FACTORS; YOUNG ADULT;

EID: 84861414440     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0037972     Document Type: Article

References (65)

1. Shekelle RB, Shryock AM, Paul O, Lepper M, Stamler J, et al. (1981) Diet, serum cholesterol, and death from coronary heart disease. The Western Electric study. N Engl J Med 304: 65-70.
2. Austin MA, (1989) Plasma triglyceride as a risk factor for coronary heart disease. The epidemiologic evidence and beyond. Am J Epidemiol 129: 249-259.
3. National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) (2002) 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) final report. Circulation 106: 3143-3421.
4. Kwiterovich PO Jr, Coresh J, Smith HH, Bachorik PS, Derby CA, et al. (1992) Comparison of the plasma levels of apolipoproteins B and A-1, and other risk factors in men and women with premature coronary artery disease. Am J Cardiol 69: 1015-1021.
5. Hokanson JE, Austin MA, (1996) Plasma triglyceride level is a risk factor for cardiovascular disease independent of high-density lipoprotein cholesterol level: a meta-analysis of population-based prospective studies. J Cardiovasc Risk 3: 213-319.
6. Ruixing Y, Qiming F, Dezhai Y, Shuquan L, Weixiong L, et al. (2007) Comparison of demography, diet, lifestyle, and serum lipid levels between the Guangxi Bai Ku Yao and Han populations. J Lipid Res 48: 2673-2681.
7. Yin RX, Li YY, Liu WY, Zhang L, Wu JZ, (2011) Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels. PLoS One 6: e17954.
8. Heller DA, de Faire U, Pedersen NL, Dahlén G, McClearn GE, (1993) Genetic and environmental influences on serum lipid levels in twins. N Engl J Med 328: 1150-1156.
9. Pérusse L, Rice T, Després JP, Bergeron J, Province MA, et al. (1997) Familial resemblance of plasma lipids, lipoproteins and postheparin lipoprotein and hepatic lipases in the HERITAGE Family Study. Arterioscler Thromb Vasc Biol 17: 3263-3269.
10. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466: 707-713.
11. Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, et al. (2009) Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 41: 56-65.
12. Dumitrescu L, Carty CL, Taylor K, Schumacher FR, Hindorff LA, et al. (2011) Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study. PLoS Genet 7: e1002138.
13. Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, et al. (2008) Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet 40: 189-197.
14. Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, et al. (2008) Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 40: 161-169.
15. Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, et al. (2009) Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 41: 47-55.
16. Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, et al. (2001) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet 69: 278-290.
17. Berge KE, Tian H, Graf GA, Yu L, Grishin NV, et al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 290: 1771-1775.
18. Hazard SE, Patel SB, (2007) Sterolins ABCG5 and ABCG8: regulators of whole body dietary sterols. Pflugers Arch 453: 745-752.
19. Hubacek JA, Berge KE, Cohen JC, Hobbs HH, (2001) Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat 18: 359-360.
20. Bhattacharyya KA, Conner WE, (1974) β-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 53: 1033-1043.
21. Dean M, (2005) The genetics of ATP-binding cassette transporters. Methods Enzymol 400: 409-429.
22. Gadsby DC, Vergani P, Csanady L, (2006) The ABC protein turned chloride channel whose failure causes cystic fibrosis. Nature 440: 477-483.
23. Oram JF, Vaughan AM, (2006) ATP-Binding cassette cholesterol transporters and cardiovascular disease. Circ Res 99: 1031-1043.
24. Yu L, Hammer RE, Li-Hawkins J, Von Bergmann K, Lutjohann D, et al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion. Proc Natl Acad Sci USA 99: 16237-16242.
25. Klett EL, Lu K, Kosters A, Vink E, Lee MH, et al. (2004) A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. BMC Med 2: 5.
26. Yu L, von Bergmann K, Lutjohann D, Hobbs HH, Cohen JC, (2004) Selective sterol accumulation in ABCG5/ABCG8-deficient mice. J Lipid Res 45: 301-307.
27. Yu L, Li-Hawkins J, Hammer RE, Berge KE, Horton JD, et al. (2002) Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J Clin Invest 110: 671-680.
28. Rudkowska I, Jones PJ, (2008) Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease. Nutr Rev 66: 343-348.
29. Weggemans RM, Zock PL, Tai ES, Ordovas JM, Molhuizen HO, et al. (2002) ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans. Clin Genet 62: 226-229.
30. Herron KL, McGrane MM, Waters D, Lofgren IE, Clark RM, et al. (2006) The ABCG5 polymorphism contributes to individual responses to dietary cholesterol and carotenoids in eggs. J Nutr 136: 1161-1165.
31. Viturro E, de Oya M, Lasunción MA, Gorgojo L, Moreno JM, et al. (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.
32. Acalovschi M, Ciocan A, Mostean O, Tirziu S, Chiorean E, et al. (2006) Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones. Eur J Intern Med 17: 490-494.
33. Plat J, Bragt MC, Mensink RP, (2005) Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers. J Lipid Res 46: 68-75.
34. Berge KE, von Bergmann K, Lutjohann D, Guerra R, Grundy SM, et al. (2002) Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. J Lipid Res 43: 486-494.
35. Kajinami K, Brousseau ME, Nartsupha C, Ordovas JM, Schaefer EJ, (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.
36. Gylling H, Hallikainen M, Pihlajamäki J, Agren J, Laakso M, et al. (2004) Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity. J Lipid Res 45: 1660-1665.
37. Hubácek JA, Berge KE, Stefková J, Pitha J, Skodová Z, et al. (2004) Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. Physiol Res 53: 395-401.
38. Junyent M, Tucker KL, Smith CE, Garcia-Rios A, Mattei J, et al. (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.
39. Santosa S, Demonty I, Lichtenstein AH, Ordovas JM, Jones PJ, (2007) Single nucleotide polymorphisms in ABCG5 and ABCG8 are associated with changes in cholesterol metabolism during weight loss. J Lipid Res 48: 2607-2613.
40. Koeijvoets KC, van der Net JB, Dallinga-Thie GM, Steyerberg EW, Mensink RP, et al. (2009) ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia. Atherosclerosis 204: 453-458.
41. Chan DC, Watts GF, Barrett PH, Whitfield AJ, van Bockxmeer FM, (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.
42. Miwa K, Inazu A, Kobayashi J, Higashikata T, Nohara A, et al. (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.
43. Chen ZC, Shin SJ, Kuo KK, Lin KD, Yu ML, et al. (2008) Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance. J Hum Genet 53: 757-763.
44. Carey MC, (1997) Homing-in on the origin of biliary steroids. Gut 41: 721-722.
45. Xu L, Deng QY, Li SF, Zhou LN, Gong JC, et al. (2008) Genetic analysis of Mulao nationality using 15 short tandem repeats. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25: 96-100.
46. People's Republic of China-United States Cardiovascular and Cardiopulmonary Epidemiology Research Group (1992) An epidemiological study of cardiovascular and cardiopulmonary disease risk factors in four populations in the People's Republic of China. Baseline report from the P.R.C.-U.S.A. Collaborative Study. Circulation 85: 1083-1096.
47. Li Q, Yin RX, Yan TT, Miao L, Cao XL, et al. (2011) Association of the GALNT2 gene polymorphisms and several environmental factors with serum lipid levels in the Mulao and Han populations. Lipids Health Dis 10: 160.
48. Aung LH, Yin RX, Wu DF, Li Q, Yan TT, et al. (2011) Association of the TRIB1 tribbles homolog 1 gene rs17321515 A&G polymorphism and serum lipid levels in the Mulao and Han populations. Lipids Health Dis 10: 230.
49. Yan TT, Yin RX, Li Q, Huang P, Zeng XN, et al. (2011) Sex-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels in the Mulao and Han populations. Lipids Health Dis 10: 248.
50. Ruixing Y, Shangling P, Shuquan L, Dezhai Y, Weixiong L, et al. (2008) Comparison of hypertension and its risk factors between the Guangxi Bai Ku Yao and Han populations. Blood Press 17: 306-316.
51. Ruixing Y, Hui L, Jinzhen W, Weixiong L, Dezhai Y, et al. (2009) Association of diet and lifestyle with blood pressure in the Guangxi Hei Yi Zhuang and Han populations. Public Health Nutr 12: 553-561.
52. Cooperative Meta-analysis Group of China Obesity Task Force (2002) Predictive values of body mass index and waist circumference to risk factors of related diseases in Chinese adult population. Zhonghua Liu Xing Bing Xue Za Zhi 23: 5-10.
53. Torres N, Guevara-Cruz M, Granados J, Vargas-Alarcón G, González-Palacios B, et al. (2009) Reduction of serum lipids by soy protein and soluble fiber is not associated with the ABCG5/G8, apolipoprotein E, and apolipoprotein A1 polymorphisms in a group of hyperlipidemic Mexican subjects. Nutr Res 29: 728-735.
54. Caamaño JM, Pacheco A, Lanas F, Salazar LA, (2008) Single nucleotide polymorphisms in ABCG5 and ABCG8 genes in Chilean subjects with polygenic hypercholesterolemia and controls. Clin Chem Lab Med 46: 1581-1585.
55. Szilvási A, Andrikovics H, Pongrácz E, Kalina A, Komlósi Z, et al. (2010) Frequencies of four ATP-binding cassette transporter G8 polymorphisms in patients with ischemic vascular diseases. Genet Test Mol Biomarkers 14: 667-672.
56. Garcia-Rios A, Perez-Martinez P, Fuentes F, Mata P, Lopez-Miranda J, et al. (2010) Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. Atherosclerosis 210: 486-492.
57. Srivastava A, Garg N, Srivastava A, Srivastava K, Mittal B, (2010) Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy. Dis Markers 28: 307-313.
58. Kajinami K, Brousseau ME, Ordovas JM, Schaefer EJ, (2004) Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterol-lowering response to atorvastatin. Atherosclerosis 175: 287-293.
59. Zhao HL, Houweling AH, Vanstone CA, Jew S, Trautwein EA, et al. (2008) Genetic variation in ABC G5/G8 and NPC1L1 impact cholesterol response to plant sterols in hypercholesterolemic men. Lipids 43: 1155-1164.
60. Jakulj L, Vissers MN, Tanck MW, Hutten BA, Stellaard F, et al. (2010) ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis. J Lipid Res 51: 3016-3023.
61. Abellán R, Mansego ML, Martínez-Hervás S, Martín-Escudero JC, Carmena R, et al. (2010) Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study. Atherosclerosis 211: 203-209.
62. Wei KK, Zhang LR, Zhang Y, Hu XJ, (2011) Interactions between CYP7A1 A-204C and ABCG8 C1199A polymorphisms on lipid lowering with atorvastatin. J Clin Pharm Ther 36: 725-733.
63. Junyent M, Tucker KL, Smith CE, Lane JM, Mattei J, et al. (2010) The effects of ABCG5/G8 polymorphisms on HDL-cholesterol concentrations depend on ABCA1 genetic variants in the Boston Puerto Rican Health Study. Nutr Metab Cardiovasc Dis 20: 558-566.
64. Rimm EB, Williams P, Fosher K, Criqu M, Stampfer MJ, (1999) Moderate alcohol intake and lower risk of coronary heart disease: Meta-analysis of effects on lipids and haemostatic factors. BMJ 319: 1523-1528.
65. Stampfer MJ, Kraussm RM, Ma J, Blanche PJ, Holl LG, et al. (1996) A prospective study of trigliceryde level, low-density lipoprotein particle diameter, and risk of myocardial infarction. JAMA 276: 882-888.