ATP binding cassette and cholecystokinin A receptor genetic variations in gallstone susceptibility
Gastroenterology and Hepatology from Bed to Bench,
Vol. 10 No. Supplement 1 (2017),
26 December 2017
,
Page S108-S116
https://doi.org/10.22037/ghfbb.v0i0.1153
Abstract
Aim: It was aimed to assess the association of four polymorphisms and relative haplotypes in the ATP binding cassettes and cholecystokinin A receptor (rs6720173, rs11887534, rs4148217, rs1800857) with the risk of gallstone.
Background: Gallstone is a multifactorial disease. Besides high penetrance genes, low or moderate penetrance polymorphisms may increase susceptibility to gallstone.
Methods: 200 gallstone patients and 251 healthy controls were analyzed in a case-control association model. Genotyping was carried out by restriction fragment length polymorphism. Randomly 10% of samples underwent for direct sequencing to confirm results.
Results: Heterozygote variant of rs11887534 demonstrated protective effect on the risk of gallstone susceptibility in males (P=0.013; OR=0.125; CI95%=0.048-0.325). In contrast, C/C genotype associated with gallstone susceptibility in females (P=0.004; OR=5.555 CI95%=1.975-10.632). Moreover, rs1800857 showed association only in females (P=0.019; OR=0.283; CI95%=0.099-0.811). Haplotype analysis for rs1800857 showed GC, CC and CA association with gallstone.
Conclusion: The most imperative polymorphisms of contributing genes to gallstone were analyzed in this study and rs11887534 and rs1800857 appeared to be associated with gallstone, which is expected to be further veri?ed in a larger cohort in the future.
- gallstone
- ATP binding cassette
- cholecystokinin A receptor
- polymorphism
How to Cite
References
Srivastava A, Tulsyan S, Pandey SN, Choudhuri G, Mittal B. Single nucleotide polymorphism in the ABCG8 transporter gene is associated with gallbladder cancer susceptibility. Liver Int. 2009;29:831-7
Cucher D, Kulvatunyou N, Green DJ, Jie T, Ong ES. Gallstone Pancreatitis: A Review: Surg Clin North Am. 2014;94:257-280. doi: 10.1016/j.suc.2014.01.006.
Wittenburg H, Lammert F. Genetic predisposition to gallbladder stones. Semin Liver Dis. 2007;27:109-21
Ruhl CE, Everhart JE. Gallstone disease is associated with increased mortality in the United States. Gastroenterology. 2011;140:508-16
Saraç S, Atamer A, Atamer Y, Can AS, Bilici A, Taçyildiz İ, Koçyiğit Y, Yenice N. Leptin levels and lipoprotein profiles in patients with cholelithiasis. Journal of International Medical Research. 2015;43:385-92
Wang DQ. Regulation of intestinal cholesterol absorption. Annu Rev Physiol. 2007;69:221-48
O'Connell K, Brasel K. Bile Metabolism and Lithogenesis: Surg Clin North Am. 2014 Apr;94(2):361-375. doi: 10.1016/j.suc.2014.01.004. Epub 2014 Feb 18.
Gylling H, Hallikainen M, Pihlajamaki J, Agren J, Laakso M, Rajaratnam RA, Rauramaa R, Miettinen TA. Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity. J Lipid Res. 2004;45:1660-5
Srivastava A, Pandey SN, Dixit M, Choudhuri G, Mittal B. Cholecystokinin receptor A gene polymorphism in gallstone disease and gallbladder cancer. J Gastroenterol Hepatol. 2008;23:970-5
Zhu J, Han TQ, Chen S, Jiang Y, Zhang SD. Gallbladder motor function, plasma cholecystokinin and cholecystokinin receptor of gallbladder in cholesterol stone patients. World J Gastroenterol. 2005;11:1685-9
Szydlowski L, Skierska A, Markiewicz-Loskot G, Mazurek B, Morka A, Undas A. The role of Interleukin-6, its -174 G>C polymorphism and C-reactive protein in idiopathic cardiac arrhythmias in children. Adv Med Sci. 2013;58:320-5
Kuo KK, Shin SJ, Chen ZC, Yang YH, Yang JF, Hsiao PJ. Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease. Br J Surg. 2008;95:1005-11
Buch S, Schafmayer C, Volzke H, Becker C, Franke A, von Eller-Eberstein H, Kluck C, Bassmann I, Brosch M, Lammert F, Miquel JF, Nervi F, Wittig M, Rosskopf D, Timm B, Holl C, Seeger M, ElSharawy A, Lu T, Egberts J, Fandrich F, Folsch UR, Krawczak M, Schreiber S, Nurnberg P, Tepel J, Hampe J. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet. 2007;39:995-9
Yoon JH, Kuver R, Choi HS. ABCG8 D19H polymorphism: a basis for the genetic prediction of cholesterol gallstone disease: J Gastroenterol Hepatol. 2010 Nov;25(11):1713-4. doi: 10.1111/j.1440-1746.2010.06484.x.
Wang Y, Jiang ZY, Fei J, Xin L, Cai Q, Jiang ZH, Zhu ZG, Han TQ, Zhang SD. ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males. Clin Chim Acta. 2007;384:80-5
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16
Visscher PM, Hemani G, Vinkhuyzen AA, Chen G-B, Lee SH, Wray NR, Goddard ME, Yang J. Statistical power to detect genetic (co) variance of complex traits using SNP data in unrelated samples. PLoS genetics. 2014;10:e1004269
Gaunt TR, Rodríguez S, Day IN. Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool'CubeX'. BMC bioinformatics. 2007;8:428
Lee PH, Shatkay H. F-SNP: computationally predicted functional SNPs for disease association studies. Nucleic acids research. 2008;36:D820-D4
Bava KA, Gromiha MM, Uedaira H, Kitajima K, Sarai A. ProTherm, version 4.0: thermodynamic database for proteins and mutants. Nucleic acids research. 2004;32:D120-D1
Portincasa P, Moschetta A, Palasciano G. Cholesterol gallstone disease. Lancet. 2006;368:230-9
Rai R, Tewari M, Kumar M, Singh TB, Shukla HS. Expression profile of cholecystokinin type-A receptor in gallbladder cancer and gallstone disease. Hepatobiliary Pancreat Dis Int. 2011;10:408-14
Marschall HU, Einarsson C. Gallstone disease. J Intern Med. 2007;261:529-42
Srivastava A, Srivastava K, Choudhuri G, Mittal B. Role of ABCG8 D19H (rs11887534) variant in gallstone susceptibility in northern India. J Gastroenterol Hepatol. 2010;25:1758-62
Knab LM, Boller AM, Mahvi DM. Cholecystitis: Surg Clin North Am. 2014 Apr;94(2):455-470. doi: 10.1016/j.suc.2014.01.005. Epub 2014 Feb 18.
Lammert F, Miquel JF. Gallstone disease: from genes to evidence-based therapy. J Hepatol. 2008;48:6
Rudkowska I, Jones PJ. Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease. Nutr Rev. 2008;66:343-8
Acalovschi M, Ciocan A, Mostean O, Tirziu S, Chiorean E, Keppeler H, Schirin-Sokhan R, Lammert F. Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones. Eur J Intern Med. 2006;17:490-4
Katsika D, Magnusson P, Krawczyk M, Grunhage F, Lichtenstein P, Einarsson C, Lammert F, Marschall HU. Gallstone disease in Swedish twins: risk is associated with ABCG8 D19H genotype. J Intern Med. 2010;268:279-85
Zhang J, Prizment AE, Dhakal IB, Anderson KE. Cholecystectomy, gallstones, tonsillectomy, and pancreatic cancer risk: a population-based case-control study in minnesota. Br J Cancer. [Journal article]. 2014;25:154
Ding X, Lu CY, Mei Y, Liu CA, Shi YJ. Correlation between gene expression of CCK-A receptor and emptying dysfunction of the gallbladder in patients with gallstones and diabetes mellitus. Hepatobiliary Pancreat Dis Int. 2005;4:295-8
Sato N, Miyasaka K, Suzuki S, Kanai S, Ohta M, Kawanami T, Yoshida Y, Takiguchi S, Noda T, Takata Y, Funakoshi A. Lack of cholecystokinin-A receptor enhanced gallstone formation: a study in CCK-A receptor gene knockout mice. Dig Dis Sci. 2003;48:1944-7
- Abstract Viewed: 435 times
- PDF Downloaded: 135 times