Genetic factors in the pathogenesis of gastroesophageal reflux disease

Indian Journal of Gastroenterology

Volumn 30, Issue 2, 2011, Pages 55-62

  Ghoshal, Uday C ^a   Chourasia, Dipti ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Anti inflammatory cytokine; DNA hypermethylation; DNA repair; microRNA; Pro inflammatory cytokine; Proton pump inhibitors; Xenobiotic metabolism

Indexed keywords

CYCLIN D1; CYCLOOXYGENASE 2; CYTOCHROME P450 2C19; DNA; EPIDERMAL GROWTH FACTOR; GLUTATHIONE TRANSFERASE M1; GLUTATHIONE TRANSFERASE P1; GUANINE NUCLEOTIDE BINDING PROTEIN BETA SUBUNIT; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 10; INTERLEUKIN 1BETA; LANSOPRAZOLE; MICRORNA; OMEPRAZOLE; PROTEIN MLH1; PROTON PUMP INHIBITOR; RABEPRAZOLE; SOMATOMEDIN; XERODERMA PIGMENTOSUM GROUP C PROTEIN; XERODERMA PIGMENTOSUM GROUP D PROTEIN; XRCC1 PROTEIN;

BARRETT ESOPHAGUS; CELL CYCLE REGULATION; DIZYGOTIC TWINS; DNA REPAIR; DRUG METABOLISM; ESOPHAGEAL ADENOCARCINOMA; ESOPHAGITIS; GASTROESOPHAGEAL REFLUX; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE SILENCING; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEREDITY; HUMAN; MONOZYGOTIC TWINS; MUTAGENESIS; NONHUMAN; PATHOGENESIS; REVIEW; RISK ASSESSMENT; VARIABLE NUMBER OF TANDEM REPEAT; XENOBIOTIC METABOLISM;

GASTROESOPHAGEAL REFLUX; HUMANS;

EID: 79958826392     PISSN: 02548860     EISSN: 02548860     Source Type: Journal    
DOI: 10.1007/s12664-011-0095-7     Document Type: Review

References (60)

1. Holtmann G, Adam B, Liebregts T. Review article: the patient with gastro-oesophageal reflux disease-lifestyle advice and medication. Aliment Pharmacol Ther. 2004; 20 Suppl 8: 24-7.
2. Terry P, Lagergren J, Wolk A, Nyren O. Reflux-inducing dietary factors and risk of adenocarcinoma of the esophagus and gastric cardia. Nutr Cancer. 2000; 38: 186-91.
3. Chourasia D, Ghoshal UC. Pathogenesis of gastro-oesophageal reflux disease: what role do Helicobacter pylori and host genetic factors play? Trop Gastroenterol. 2008; 29: 13-9.
4. Ghoshal UC, Chourasia D. Gastroesophageal reflux disease and Helicobacter pylori: what may be the relationship? J Neurogastroenterol Motil. 2010; 16: 243-50.
5. Cameron AJ, Lagergren J, Henriksson C, Nyren O, Locke GR 3rd, Pedersen NL. Gastroesophageal reflux disease in monozygotic and dizygotic twins. Gastroenterology. 2002; 122: 55-9.
6. Mohammed I, Cherkas LF, Riley SA, Spector TD, Trudgill NJ. Genetic influences in gastro-oesophageal reflux disease: a twin study. Gut. 2003; 52: 1085-9.
7. Lembo A, Zaman M, Jones M, Talley NJ. Influence of genetics on irritable bowel syndrome, gastro-oesophageal reflux and dyspepsia: a twin study. Aliment Pharmacol Ther. 2007; 25: 1343-50.
8. Queiroz DM, Guerra JB, Rocha GA, et al. IL1B and IL1RN polymorphic genes and Helicobacter pylori cagA strains decrease the risk of reflux esophagitis. Gastroenterology. 2004; 127: 73-9.
9. Ando T, El-Omar EM, Goto Y, et al. Interleukin 1B proinflammatory genotypes protect against gastro-oesophageal reflux disease through induction of corpus atrophy. Gut. 2006; 55: 158-64.
10. Chourasia D, Achyut BR, Tripathi S, Mittal B, Mittal RD, Ghoshal UC. Genotypic and functional roles of IL-1B and IL-1RN on the risk of gastroesophageal reflux disease: the presence of IL-1B-511*T/IL-1RN*1 (T1) haplotype may protect against the disease. Am J Gastroenterol. 2009; 104: 2704-13.
11. Cheng HH, Chang CS, Wang HJ, Wang WC. Interleukin-1beta and -10 polymorphisms influence erosive reflux esophagitis and gastritis in Taiwanese patients. J Gastroenterol Hepatol. 2010; 25: 1443-51.
12. Zabaleta J, Camargo MC, Piazuelo MB, et al. Association of interleukin-1beta gene polymorphisms with precancerous gastric lesions in African Americans and Caucasians. Am J Gastroenterol. 2006; 101: 163-71.
13. Peleteiro B, Lunet N, Carrilho C, et al. Association between cytokine gene polymorphisms and gastric precancerous lesions: systematic review and meta-analysis. Cancer Epidemiol Biomarkers Prev. 2010; 19: 762-76.
14. Danis VA, Millington M, Hyland VJ, Grennan D. Cytokine production by normal human monocytes: inter-subject variation and relationship to an IL-1 receptor antagonist (IL-1Ra) gene polymorphism. Clin Exp Immunol. 1995; 99: 303-10.
15. Hacker UT, Erhardt S, Tschop K, Jelinek T, Endres S. Influence of the IL-1Ra gene polymorphism on in vivo synthesis of IL-1Ra and IL-1beta after live yellow fever vaccination. Clin Exp Immunol. 2001; 125: 465-9.
16. Cok SJ, Acton SJ, Morrison AR. The proximal region of the 3'-untranslated region of cyclooxygenase-2 is recognized by a multimeric protein complex containing HuR, TIA-1, TIAR, and the heterogeneous nuclear ribonucleoprotein U. J Biol Chem. 2003; 278: 36157-62.
17. Ferguson HR, Wild CP, Anderson LA, et al. Cyclooxygenase-2 and inducible nitric oxide synthase gene polymorphisms and risk of reflux esophagitis, Barrett's esophagus, and esophageal adenocarcinoma. Cancer Epidemiol Biomarkers Prev. 2008; 17: 727-31.
18. Moons LM, Kuipers EJ, Rygiel AM, et al. COX-2 CA-haplotype is a risk factor for the development of esophageal adenocarcinoma. Am J Gastroenterol. 2007; 102: 2373-9.
19. Gough MD, Ackroyd R, Majeed AW, Bird NC. Prediction of malignant potential in reflux disease: are cytokine polymorphisms important? Am J Gastroenterol. 2005; 100: 1012-8.
20. Moons LM, Kusters JG, van Delft JH, et al. A pro-inflammatory genotype predisposes to Barrett's esophagus. Carcinogenesis. 2008; 29: 926-31.
21. Sagar M, Bertilsson L, Stridsberg M, Kjellin A, Mardh S, Seensalu R. Omeprazole and CYP2C19 polymorphism: effects of long-term treatment on gastrin, pepsinogen I, and chromogranin A in patients with acid related disorders. Aliment Pharmacol Ther. 2000; 14: 1495-502.
22. Kawamura M, Ohara S, Koike T, et al. The effects of lansoprazole on erosive reflux oesophagitis are influenced by CYP2C19 polymorphism. Aliment Pharmacol Ther. 2003; 17: 965-73.
23. Horn J. Review article: relationship between the metabolism and efficacy of proton pump inhibitors-focus on rabeprazole. Aliment Pharmacol Ther. 2004; 20 Suppl 6: 11-9.
24. Kinoshita Y. Review article: treatment for gastro-oesophageal reflux disease-lifestyle advice and medication. Aliment Pharmacol Ther. 2004; 20 Suppl 8: 19-23.
25. Tripathi S, Ghoshal U, Ghoshal UC, et al. Gastric carcinogenesis: possible role of polymorphisms of GSTM1, GSTT1, and GSTP1 genes. Scand J Gastroenterol. 2008; 43: 431-9.
26. Sivonova M, Waczulikova I, Dobrota D, et al. Polymorphisms of glutathione-S-transferase M1, T1, P1 and the risk of prostate cancer: a case-control study. J Exp Clin Cancer Res. 2009; 28: 32.
27. Mittal RD, Kesarwani P, Singh R, Ahirwar D, Mandhani A. GSTM1, GSTM3 and GSTT1 gene variants and risk of benign prostate hyperplasia in North India. Dis Markers. 2009; 26: 85-91.
28. Ali-Osman F, Akande O, Antoun G, Mao JX, Buolamwini J. Molecular cloning, characterization, and expression in Escherichia coli of full-length cDNAs of three human glutathione S-transferase Pi gene variants. Evidence for differential catalytic activity of the encoded proteins. J Biol Chem. 1997; 272: 10004-12.
29. Hayes JD, Strange RC. Glutathione S-transferase polymorphisms and their biological consequences. Pharmacology. 2000; 61: 154-66.
30. Pemble S, Schroeder KR, Spencer SR, et al. Human glutathione S-transferase theta (GSTT1): cDNA cloning and the characterization of a genetic polymorphism. Biochem J. 1994; 300 (Pt 1): 271-6.
31. Liu B, Fan YJ, Wang ML, et al. Genetic polymorphisms in glutathione S-transferases T1, M1 and P1 and susceptibility to reflux esophagitis. Dis Esophagus. 2006; 19: 477-81.
32. Kala Z, Dolina J, Marek F, Izakovicova Holla L. Polymorphisms of glutathione S-transferase M1, T1 and P1 in patients with reflux esophagitis and Barrett's esophagus. J Hum Genet. 2007; 52: 527-34.
33. Casson AG, Zheng Z, Evans SC, Veugelers PJ, Porter GA, Guernsey DL. Polymorphisms in DNA repair genes in the molecular pathogenesis of esophageal (Barrett) adenocarcinoma. Carcinogenesis. 2005; 26: 1536-41.
34. Ye W, Kumar R, Bacova G, Lagergren J, Hemminki K, Nyren O. The XPD 751Gln allele is associated with an increased risk for esophageal adenocarcinoma: a population-based case-control study in Sweden. Carcinogenesis. 2006; 27: 1835-41.
35. Liu G, Zhou W, Yeap BY, et al. XRCC1 and XPD polymorphisms and esophageal adenocarcinoma risk. Carcinogenesis. 2007; 28: 1254-8.
36. Casson AG, Zheng Z, Evans SC, et al. Cyclin D1 polymorphism (G870A) and risk for esophageal adenocarcinoma. Cancer. 2005; 104: 730-9.
37. Lanuti M, Liu G, Goodwin JM, et al. A functional epidermal growth factor (EGF) polymorphism, EGF serum levels, and esophageal adenocarcinoma risk and outcome. Clin Cancer Res. 2008; 14: 3216-22.
38. Cheung WY, Zhai R, Kulke MH, et al. Epidermal growth factor A61G gene polymorphism, gastroesophageal reflux disease and esophageal adenocarcinoma risk. Carcinogenesis. 2009; 30: 1363-7.
39. Rohof WO, Hirsch DP, Boeckxstaens GE. Pathophysiology and management of gastroesophageal reflux disease. Minerva Gastroenterol Dietol. 2009; 55: 289-300.
40. Boeckxstaens GE. Review article: the pathophysiology of gastro-oesophageal reflux disease. Aliment Pharmacol Ther. 2007; 26: 149-60.
41. de Vries DR, ter Linde JJ, van Herwaarden MA, Smout AJ, Samsom M. Gastroesophageal reflux disease is associated with the C825T polymorphism in the G-protein beta3 subunit gene (GNB3). Am J Gastroenterol. 2009; 104: 281-5.
42. Vasavi M, Ponnala S, Gujjari K, et al. DNA methylation in esophageal diseases including cancer: special reference to hMLH1 gene promoter status. Tumori. 2006; 92: 155-62.
43. Filipowicz W, Bhattacharyya SN, Sonenberg N. Mechanisms of post-transcriptional regulation by microRNAs: are the answers in sight? Nat Rev Genet. 2008; 9: 102-14.
44. Wijnhoven BP, Michael MZ, Watson DI. MicroRNAs and cancer. Br J Surg. 2007; 94: 23-30.
45. Davis BN, Hilyard AC, Lagna G, Hata A. SMAD proteins control DROSHA-mediated microRNA maturation. Nature. 2008; 454: 56-61.
46. Papagiannakopoulos T, Kosik KS. MicroRNAs: regulators of oncogenesis and stemness. BMC Med. 2008; 6: 15.
47. Mathe EA, Nguyen GH, Bowman ED, et al. MicroRNA expression in squamous cell carcinoma and adenocarcinoma of the esophagus: associations with survival. Clin Cancer Res. 2009; 15: 6192-200.
48. Suzuki HI, Yamagata K, Sugimoto K, Iwamoto T, Kato S, Miyazono K. Modulation of microRNA processing by p53. Nature. 2009; 460: 529-33.
49. Hino K, Tsuchiya K, Fukao T, et al. Inducible expression of microRNA-194 is regulated by HNF-1alpha during intestinal epithelial cell differentiation. RNA. 2008; 14: 1433-42.
50. Maru DM, Singh RR, Hannah C, et al. MicroRNA-196a is a potential marker of progression during Barrett's metaplasia-dysplasia-invasive adenocarcinoma sequence in esophagus. Am J Pathol. 2009; 174: 1940-8.
51. Braun CJ, Zhang X, Savelyeva I, et al. p53-Responsive micrornas 192 and 215 are capable of inducing cell cycle arrest. Cancer Res. 2008; 68: 10094-104.
52. Georges SA, Biery MC, Kim SY, et al. Coordinated regulation of cell cycle transcripts by p53-Inducible microRNAs, miR-192 and miR-215. Cancer Res. 2008; 68: 10105-12.
53. Wijnhoven BP, Hussey DJ, Watson DI, Tsykin A, Smith CM, Michael MZ. MicroRNA profiling of Barrett's oesophagus and oesophageal adenocarcinoma. Br J Surg. 2010; 97: 853-61.
54. Smith CM, Watson DI, Michael MZ, Hussey DJ. MicroRNAs, development of Barrett's esophagus, and progression to esophageal adenocarcinoma. World J Gastroenterol. 2010; 16: 531-7.
55. Kontorovich T, Levy A, Korostishevsky M, Nir U, Friedman E. Single nucleotide polymorphisms in miRNA binding sites and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high-risk women. Int J Cancer. 2010; 127: 589-97.
56. Landi D, Barale R, Gemignani F, Landi S. Prediction of the biological effect of polymorphisms within microRNA binding sites. Methods Mol Biol. 2010; 676: 197-210.
57. Lee HC, Kim JG, Chae YS, et al. Prognostic impact of microRNA-related gene polymorphisms on survival of patients with colorectal cancer. J Cancer Res Clin Oncol. 2010; 136: 1073-8.
58. Lin J, Horikawa Y, Tamboli P, Clague J, Wood CG, Wu X. Genetic variations in microRNA-related genes are associated with survival and recurrence in patients with renal cell carcinoma. Carcinogenesis. 2010; 31: 1805-12.
59. Liu Z, Li G, Wei S, et al. Genetic variants in selected premicroRNA genes and the risk of squamous cell carcinoma of the head and neck. Cancer. 2010;116:4753-60.
60. McElholm AR, McKnight AJ, Patterson CC, Johnston BT, Hardie LJ, Murray LJ. A population-based study of IGF axis polymorphisms and the esophageal inflammation, metaplasia, adenocarcinoma sequence. Gastroenterology. 2010; 139: 204-12 e3.