Volume 12, Issue 2 (Spring 2023)
aumj 2023, 12(2): 138-143 |
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Yektamoghaddam S, Forghanifard M M, Zarrinpour V, Fathi M. Evaluation of the relationship between ABCB11 gene polymorphism and the incidence of gallstones and related SGOT and SGPT biochemical factors in the Iranian population. aumj 2023; 12 (2) :138-143
URL: http://aums.abzums.ac.ir/article-1-1702-en.html
URL: http://aums.abzums.ac.ir/article-1-1702-en.html
1- Department of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran.
2- Professor, Institute for Non-Communicable Diseases, Cellular and Molecular Research Center, Qazvin university of Medical Sciences, Qazvin, Iran.-Department of Biochemistry and Genetics, School of Medicine, Qazvin university of Medical Sciences, Qazvin, Iran
2- Professor, Institute for Non-Communicable Diseases, Cellular and Molecular Research Center, Qazvin university of Medical Sciences, Qazvin, Iran.-Department of Biochemistry and Genetics, School of Medicine, Qazvin university of Medical Sciences, Qazvin, Iran
Abstract: (738 Views)
Introduction: Gallstones are one of the most common gastrointestinal diseases because genetic factors have not been yet identified. The ABCB11 gene locates on chromosome 2 and generates the Bile Salt Output Pump (BSEP) in human encoding by creating gallstone. Our aim of in the present study was to investigate the relationship between liver biochemical factors and ABCB11 gene polymorphism with the risk of gallstone.
Materials and Methods: The study was performed recruiting 100 gallstone patients and 100 healthy individuals in Golsar Hospital, Rasht, in 1397. After sonography, subjects were divided into patients and healthy groups and the relationship between disease and ABCB11 gene polymorphism was examined by ARMS-PCR. Typically, 10 samples were sampled for the required sequencing results. Differences between the two groups were determined by statistical analysis.
Results: In the present SGOT study, SGPT level was elevated in patients in comparison with healthy individuals (P <0.05). The frequency of ABCB11 gene C allele between patient and healthy was 22.5% and 22% of the budget, respectively. There is no significant relationship between the frequency of alleles and genotypes in patients compared to healthy cases (P ˃ 0.05). Under these conditions, the frequency of TT, TC and CC genotypes among individuals over 60 years of age were 27, 21 and 3, respectively. There is no significant relationship between gender and age with disease (P /0 0.05). The mean age of patients over 60 years (P = 0.0) was significantly higher than healthy. People with homozygous TT genotype were more likely to develop the disease.
Discussion and Conclusion: The increased level of biochemical factors can predicts possibility of liver damage. The lack of correlation between ABCB11 and disease may be due to genetic differences between different races. Further studies with a larger group is essential.
Materials and Methods: The study was performed recruiting 100 gallstone patients and 100 healthy individuals in Golsar Hospital, Rasht, in 1397. After sonography, subjects were divided into patients and healthy groups and the relationship between disease and ABCB11 gene polymorphism was examined by ARMS-PCR. Typically, 10 samples were sampled for the required sequencing results. Differences between the two groups were determined by statistical analysis.
Results: In the present SGOT study, SGPT level was elevated in patients in comparison with healthy individuals (P <0.05). The frequency of ABCB11 gene C allele between patient and healthy was 22.5% and 22% of the budget, respectively. There is no significant relationship between the frequency of alleles and genotypes in patients compared to healthy cases (P ˃ 0.05). Under these conditions, the frequency of TT, TC and CC genotypes among individuals over 60 years of age were 27, 21 and 3, respectively. There is no significant relationship between gender and age with disease (P /0 0.05). The mean age of patients over 60 years (P = 0.0) was significantly higher than healthy. People with homozygous TT genotype were more likely to develop the disease.
Discussion and Conclusion: The increased level of biochemical factors can predicts possibility of liver damage. The lack of correlation between ABCB11 and disease may be due to genetic differences between different races. Further studies with a larger group is essential.
Keywords: Gallstone disease (GD), Single nucleotide polymorphism (SNP), ABCB11, Cholecystitis, Bile salt exit pump (BSEP)
Type of Study: Research |
Subject:
Special
Received: 2021/10/29 | Accepted: 2023/03/03 | Published: 2023/05/31
Received: 2021/10/29 | Accepted: 2023/03/03 | Published: 2023/05/31
References
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2. Aerts, R. & Penninckx, F. The burden of gallstone disease in Europe. Aliment. Pharmacol 2001; Ther. 18 (Suppl. 3), 49-53. [DOI:10.1046/j.0953-0673.2003.01721.x]
3. Volzke, H. et al. Independent risk factors for gallstone formation in a region with high cholelithiasis prevalence. Digestion 2005; 71, 97-105. [DOI:10.1159/000084525]
4. Carey, M. C. & Paigen, B. Epidemiology of the American Indians' burden and its likely genetic origins. Hepatology 2002. 36, 781-791. [DOI:10.1053/jhep.2002.36545]
5. Nervi, F., Miquel, J. F. & Marshall, G. The Amerindian epidemics of cholesterol gallstones: the North and South connection. Hepatology 2003; 37, 947-948. [DOI:10.1053/jhep.2003.50140]
6. Tsai, C. J., Leitzmann, M. F., Willett, W. C. & Giovannucci, E. L. Macronutrients and insulin resistance in cholesterol gallstone diseaseAm. J. Gastroenterol. 2008; 103, 2932-2939. [DOI:10.1111/j.1572-0241.2008.02189.x]
7. Goto K, Sugiyama K, Sugiura T, Ando T, Mizutani F, Terabe K, et al. Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 2003;36: 647-650. [DOI:10.1097/00005176-200305000-00012]
8. Clemens Schafmayer, Jürgen Hartleb, Jürgen Tepe, Stefan Albers, Sandra Freitag, Henry Völzke, Stephan Buch, Markus Seeger, Birgit Timm, Bernd Kremer, Ulrich R Fölsch, Fred Fändrich, Michael Krawczak, Stefan Schreiber and Jochen Hampe. Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany. BMC Gastroenterology 2006, 6:36. [DOI:10.1186/1471-230X-6-36]
9. Liqing Yu, Jia Li-Hawkins, Robert E. Hammer, Knut E. Berge, Jay D. Horton, Jonathan C. Cohen and Helen H. Hobbs. Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J. Clin. Invest. 110:671-680 (2002). [DOI:10.1172/JCI0216001]
10. Peter I. Mackenzie, Karl Walter Bock, Brian Burchell, Chantal Guillemette, Shin-ichi Ikushiro, Takashi Iyanagi, John O. Miners, Ida S. Owens and Daniel W. Nebert . Nomenclature update for the mammalian UDP glycosyltransferase (UGT) gene superfamily. Pharmacogenetics and Genomics 2005, 15:677-685. [DOI:10.1097/01.fpc.0000173483.13689.56]
11. Bahram Amouwghlat Berrizi, Siamand Ancient, Shirkooh Abbasi Hajiabad, Mohammad Moradian. Frequency of biliary stones in slaughter buffaloes in Tabriz slaughter house and its relation with Some liver parameters. Volume 9, Issue 1,Year 33, Spring 13.
12. P DUVALDESTIN, J-L MAHU, J-M METREAU, JOSETTE ARONDEL, ANNE-MARIE PREAUX, AND P BERTHELOT.Possible role of a defect in hepatic bilirubin glucuronidation in the initiation of cholesterol Gallstones. Gut 1980, 21, 650-655. [DOI:10.1136/gut.21.8.650]
13. Schafmayer, C. et al. Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany. BMC Gastroenterol. 2006; 6, 36. [DOI:10.1186/1471-230X-6-36]
14. Everhart, J. E. & Ruhl, C. E. Burden of digestive diseases in the United States Part III: liver, biliary tract, and pancreas. Gastroenterology 2009; 136, 1134-1144. [DOI:10.1053/j.gastro.2009.02.038]
15. Aerts, R. & Penninckx, F. The burden of gallstone disease in Europe. Aliment. Pharmacol 2001; Ther. 18 (Suppl. 3), 49-53. [DOI:10.1046/j.0953-0673.2003.01721.x]
16. Volzke, H. et al. Independent risk factors for gallstone formation in a region with high cholelithiasis prevalence. Digestion 2005; 71, 97-105. [DOI:10.1159/000084525]
17. Carey, M. C. & Paigen, B. Epidemiology of the American Indians' burden and its likely genetic origins. Hepatology 2002. 36, 781-791. [DOI:10.1053/jhep.2002.36545]
18. Nervi, F., Miquel, J. F. & Marshall, G. The Amerindian epidemics of cholesterol gallstones: the North and South connection. Hepatology 2003; 37, 947-948. [DOI:10.1053/jhep.2003.50140]
19. Tsai, C. J., Leitzmann, M. F., Willett, W. C. & Giovannucci, E. L. Macronutrients and insulin resistance in cholesterol gallstone diseaseAm. J. Gastroenterol. 2008; 103, 2932-2939. [DOI:10.1111/j.1572-0241.2008.02189.x]
20. Goto K, Sugiyama K, Sugiura T, Ando T, Mizutani F, Terabe K, et al. Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 2003;36: 647-650. [DOI:10.1097/00005176-200305000-00012]
21. Clemens Schafmayer, Jürgen Hartleb, Jürgen Tepe, Stefan Albers, Sandra Freitag, Henry Völzke, Stephan Buch, Markus Seeger, Birgit Timm, Bernd Kremer, Ulrich R Fölsch, Fred Fändrich, Michael Krawczak, Stefan Schreiber and Jochen Hampe. Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany. BMC Gastroenterology 2006, 6:36. [DOI:10.1186/1471-230X-6-36]
22. Liqing Yu, Jia Li-Hawkins, Robert E. Hammer, Knut E. Berge, Jay D. Horton, Jonathan C. Cohen and Helen H. Hobbs. Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol. J. Clin. Invest. 110:671-680 (2002). [DOI:10.1172/JCI0216001]
23. Peter I. Mackenzie, Karl Walter Bock, Brian Burchell, Chantal Guillemette, Shin-ichi Ikushiro, Takashi Iyanagi, John O. Miners, Ida S. Owens and Daniel W. Nebert . Nomenclature update for the mammalian UDP glycosyltransferase (UGT) gene superfamily. Pharmacogenetics and Genomics 2005, 15:677-685. [DOI:10.1097/01.fpc.0000173483.13689.56]
24. Bahram Amouwghlat Berrizi, Siamand Ancient, Shirkooh Abbasi Hajiabad, Mohammad Moradian. Frequency of biliary stones in slaughter buffaloes in Tabriz slaughter house and its relation with Some liver parameters. Volume 9, Issue 1,Year 33, Spring 13.
25. P DUVALDESTIN, J-L MAHU, J-M METREAU, JOSETTE ARONDEL, ANNE-MARIE PREAUX, AND P BERTHELOT.Possible role of a defect in hepatic bilirubin glucuronidation in the initiation of cholesterol Gallstones. Gut 1980, 21, 650-655. [DOI:10.1136/gut.21.8.650]
26. Schafmayer, C. et al. Predictors of gallstone composition in 1025 symptomatic gallstones from Northern Germany. BMC Gastroenterol. 2006; 6, 36. [DOI:10.1186/1471-230X-6-36]
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