Association of three common single nucleotide polymorphisms of ATP binding cassette G8 gene with gallstone disease: A meta-analysis

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Jiang, Zhao Yan ^a   Cai, Qu ^a   Chen, Er Zhen ^b  

^a Shanghai Institute of Digestive Surgery   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER G5; ABC TRANSPORTER G8; CHOLESTEROL; COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA;

ABCG5 GENE; ABCG8 GENE; ALLELE; ARTICLE; CHOLELITHIASIS; CHOLESTEROL BILE LEVEL; DNA TEMPLATE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HUMAN; LIPID COMPOSITION; REAL TIME POLYMERASE CHAIN REACTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; BILE; CASE-CONTROL STUDIES; FEMALE; GALLSTONES; GENOTYPE; HUMANS; LIPIDS; LIPOPROTEINS; LIVER; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER;

EID: 84900451474     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0087200     Document Type: Article

References (32)

1. Stinton LM, Shaffer EA (2012) Epidemiology of gallbladder disease: cholelithiasis and cancer. Gut Liver 6: 172-187.
2. Portincasa P, Moschetta A, Palasciano G (2006) Cholesterol gallstone disease. Lancet 368: 230-239. (Pubitemid 44037798)
3. Marschall HU, Katsika D, Rudling M, Einarsson C (2010) The genetic background of gallstone formation: an update. Biochem Biophys Res Commun 396: 58-62.
4. Katsika D, Grjibovski A, Einarsson C, Lammert F, Lichtenstein P, et al (2005) Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43,141 twin pairs. Hepatology 41: 1138-1143. (Pubitemid 40593922)
5. Bertomeu A, Ros E, Zambon D, Vela M, Perez-Ayuso RM, et al (1996) Apolipoprotein E polymorphism and gallstones. Gastroenterology 111: 1603-1610. (Pubitemid 26404225)
6. Xue P, Niu WQ, Jiang ZY, Zheng MH, Fei J (2012) A Meta-Analysis of Apolipoprotein E Gene epsilon2/epsilon3/epsilon4 Polymorphism for Gallbladder Stone Disease. PLoS One 7:e45849.
7. Jiang ZY, Han TQ, Suo GJ, Feng DX, Chen S, et al (2004) Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease. World J Gastroenterol 10: 1508-1512. (Pubitemid 39206820)
8. Sanchez-Cuen J, Aguilar-Medina M, Arambula-Meraz E, Romero-Navarro J, Granados J, et al (2010) ApoB-100, ApoE and CYP7A1 gene polymorphisms in Mexican patients with cholesterol gallstone disease. World J Gastroenterol 16: 4685-4690.
9. 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. (Pubitemid 34988791)
10. Stender S, Frikke-Schmidt R, Nordestgaard BG, Tybjaerg-Hansen A (2011) Sterol transporter adenosine triphosphate-binding cassette transporter G8, gallstones, and biliary cancer in 62,000 individuals from the general population. Hepatology 53: 640-648.
11. Xu HL, Cheng JR, Andreotti G, Gao YT, Rashid A, et al (2011) Cholesterol metabolism gene polymorphisms and the risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China. Carcinogenesis 32: 58-62.
12. Srivastava A, Srivastava A, Srivastava K, Choudhuri G, Mittal B (2010) Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India. J Gastroenterol Hepatol 25: 1758-1762.
13. Siddapuram SP, Mahurkar S, Duvvuru NR, Mitnala S, Guduru VR, et al (2010) Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population. J Gastroenterol Hepatol 25: 1093-1098.
14. Kuo KK, Shin SJ, Chen ZC, Yang YH, Yang JF, et al (2008) Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease. Br J Surg 95: 1005-1011.
15. Buch S, Schafmayer C, Volzke H, Becker C, Franke A, et al (2007) A genomewide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet 39: 995-999. (Pubitemid 47185186)
16. Grunhage F, Acalovschi M, Tirziu S, Walier M, Wienker TF, et al (2007) Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol. Hepatology 46: 793-801. (Pubitemid 47436126)
17. Wang Y, Jiang ZY, Fei J, Xin L, Cai Q, et al (2007) ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males. Clin Chim Acta 384: 80-85.
18. Katsika D, Magnusson P, Krawczyk M, Grunhage F, Lichtenstein P, et al (2010) Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype. J Intern Med 268: 279-285.
19. von Kampen O, Buch S, Nothnagel M, Azocar L, Molina H, et al (2013) Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus. Hepatology 2013;57: 2407-2417.
20. Jiang ZY, Parini P, Eggertsen G, Davis MA, Hu H, et al (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. (Pubitemid 351213631)
21. Cui W, Jiang ZY, Cai Q, Zhang RY, Wu WZ, et al (2010) Decreased NPC1L1 expression in the liver from Chinese female gallstone patients. Lipids Health Dis 9: 17.
22. Jiang ZY, Jiang CY, Wang L, Wang JC, Zhang SD, et al (2009) Increased NPC1L1 and ACAT2 expression in the jejunal mucosa from Chinese gallstone patients. Biochem Biophys Res Commun 379: 49-54.
23. Gustafsson U, Sahlin S, Einarsson C (2000) Biliary lipid composition in patients with cholesterol and pigment gallstones and gallstone-free subjects: deoxycholic acid does not contribute to formation of cholesterol gallstones. Eur J Clin Invest 30: 1099-1106. (Pubitemid 32064059)
24. Carey MC (1978) Critical tables for calculating the cholesterol saturation of native bile. J Lipid Res 19: 945-955.
25. Cohn LD, Becker BJ (2003) How meta-analysis increases statistical power. Psychol Methods 8: 243-253. (Pubitemid 37268945)
26. Higgins JP, Thompson SG, Deeks JJ, Altman DG (2003) Measuring inconsistency in meta-analyses. BMJ 327: 557-560. (Pubitemid 37088507)
27. Sterne JA, Egger M (2001) Funnel plots for detecting bias in meta-analysis: guidelines on choice of axis. J Clin Epidemiol 54: 1046-1055. (Pubitemid 32888370)
28. Graf GA, Li WP, Gerard RD, Gelissen I, White A, et al (2002) Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. J Clin Invest 110: 659-669. (Pubitemid 34988790)
29. Graf GA, Yu L, Li WP, Gerard R, Tuma PL, et al (2003) ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. J Biol Chem 278: 48275-48282. (Pubitemid 37523283)
30. 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. (Pubitemid 40066672)
31. van Erpecum KJ, Wang DQ, Moschetta A, Ferri D, Svelto M, et al (2006) Gallbladder histopathology during murine gallstone formation: relation to motility and concentrating function. J Lipid Res 47: 32-41. (Pubitemid 43107446)
32. Klett EL, Lee MH, Adams DB, Chavin KD, Patel SB (2004) Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine. BMC Gastroenterol 4: 21.