Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma

Gut

Volumn 66, Issue 10, 2017, Pages 1739-1747

  Buas, Matthew F ^a   He, Qianchuan ^a   Johnson, Lisa G ^a   Onstad, Lynn ^a   Levine, David M ^b   Thrift, Aaron P ^c   Gharahkhani, Puya ^d   Palles, Claire ^e   Lagergren, Jesper ^f,g   Fitzgerald, Rebecca C ^h   Ye, Weimin ^f   Caldas, Carlos ⁱ   Bird, Nigel C ^j   Shaheen, Nicholas J ^k   Bernstein, Leslie ^l   Gammon, Marilie D ^m   Wu, Anna H ⁿ   Hardie, Laura J ^o   Pharoah, Paul D ^p   Liu, Geoffrey ^q   Iyer, Prassad ^r   Corley, Douglas A ^s,t   Risch, Harvey A ^u   Chow, Wong Ho ^v   Prenen, Hans ^w   Chegwidden, Laura ^p   Love, Sharon ^x   Attwood, Stephen ^y   Moayyedi, Paul ^z   MacDonald, David ^aa   Harrison, Rebecca ^ab   Watson, Peter ^ac   Barr, Hugh ^ad   Decaestecker, John ^ae   Tomlinson, Ian ^e   Jankowski, Janusz ^af   Whiteman, David C ^d   MacGregor, Stuart ^d   Vaughan, Thomas L ^a,b   Madeleine, Margaret M ^a,b   more..

^a USA   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f KAROLINSKA INSTITUTE   (Sweden)

^g KING'S COLLEGE LONDON   (United Kingdom)

^h UNIVERSITY OF CAMBRIDGE   (United Kingdom)

ⁱ IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^j UNIVERSITY OF SHEFFIELD   (United Kingdom)

^k UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^l CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^m University of North Carolina at Chapel Hill   (United States)

ⁿ UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^o UNIVERSITY OF LEEDS   (United Kingdom)

^p UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^q PRINCESS MARGARET HOSPITAL   (Canada)

^r MAYO CLINIC   (United States)

^s DIVISION OF RESEARCH   (United States)

^t KAISER PERMANENTE   (United States)

^u YALE UNIVERSITY   (United States)

^v UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^w UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^x UNIVERSITY OF OXFORD   (United Kingdom)

^y NORTH TYNESIDE GENERAL HOSPITAL   (United Kingdom)

^z MCMASTER UNIVERSITY   (Canada)

^aa UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^ab LEICESTER ROYAL INFIRMARY   (United Kingdom)

^ac ROYAL VICTORIA HOSPITAL   (United Kingdom)

^ad GLOUCESTERSHIRE ROYAL HOSPITAL   (United Kingdom)

^ae LEICESTER GENERAL HOSPITAL   (United Kingdom)

^af UNIVERSITY OF CENTRAL LANCASHIRE   (United Kingdom)

more..

Author keywords

BARRETT'S OESOPHAGUS; GENETIC POLYMORPHISMS; INFLAMMATION; OESOPHAGEAL CANCER

Indexed keywords

CYCLOOXYGENASE 1; HLA ANTIGEN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; CYTOKINE; GLUTATHIONE TRANSFERASE; MICROSOMAL GLUTATHIONE S-TRANSFERASE-I; PROSTAGLANDIN SYNTHASE;

ADULT; AGED; ARTICLE; BARRETT ESOPHAGUS; CONTROLLED STUDY; ESOPHAGEAL ADENOCARCINOMA; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIATION; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; INFLAMMATION; MAJOR CLINICAL STUDY; MALE; MICROSOMAL GLUTATHIONE S TRANSFERASE 1 GENE; MIDDLE AGED; OXIDATIVE STRESS; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; ADENOCARCINOMA; ESOPHAGUS TUMOR; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GERMLINE MUTATION; METABOLISM; RISK FACTOR; SIGNAL TRANSDUCTION;

ADENOCARCINOMA; AGED; BARRETT ESOPHAGUS; CYTOKINES; ESOPHAGEAL NEOPLASMS; FEMALE; GENE-ENVIRONMENT INTERACTION; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GERM-LINE MUTATION; GLUTATHIONE TRANSFERASE; HLA ANTIGENS; HUMANS; INFLAMMATION; MALE; MIDDLE AGED; NF-KAPPA B; OXIDATIVE STRESS; POLYMORPHISM, SINGLE NUCLEOTIDE; PRINCIPAL COMPONENT ANALYSIS; PROSTAGLANDIN-ENDOPEROXIDE SYNTHASES; RISK FACTORS; SIGNAL TRANSDUCTION;

EID: 84982867194     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2016-311622     Document Type: Article

References (50)

1. Thrift AP, Whiteman DC. The incidence of esophageal adenocarcinoma continues to rise: Analysis of period and birth cohort effects on recent trends. Ann Oncol 2012;23:3155-62.
2. Vaughan TL, Fitzgerald RC. Precision prevention of oesophageal adenocarcinoma. Nat Rev Gastroenterol Hepatol 2015;12:243-8.
3. Reid BJ, Li X, Galipeau PC, et al. Barrett's oesophagus and oesophageal adenocarcinoma: Time for a new synthesis. Nat Rev Cancer 2010;10:87-101.
4. Lagergren J, Bergström R, Lindgren A, et al. Symptomatic gastroesophageal reflux as a risk factor for esophageal adenocarcinoma. N Engl J Med 1999;340:825-31.
5. Vaughan TL, Davis S, Kristal A, et al. Obesity, alcohol, and tobacco as risk factors for cancers of the esophagus and gastric cardia: Adenocarcinoma versus squamous cell carcinoma. Cancer Epidemiol Biomarkers Prev 1995;4:85-92.
6. Vaughan TL, Dong LM, Blount PL, et al. Non-steroidal anti-inflammatory drugs and risk of neoplastic progression in Barrett's oesophagus: A prospective study. Lancet Oncol 2005;6:945-52.
7. Liao LM, Vaughan TL, Corley DA, et al. Nonsteroidal anti-inflammatory drug use reduces risk of adenocarcinomas of the esophagus and esophagogastric junction in a pooled analysis. Gastroenterology 2012;142:442-52.
8. Kantor ED, Onstad L, Blount PL, et al. Use of statin medications and risk of esophageal adenocarcinoma in persons with Barrett's esophagus. Cancer Epidemiol Biomarkers Prev 2012;21:456-61.
9. Rosin MP, Anwar WA, Ward AJ. Inflammation, chromosomal instability, and cancer: The schistosomiasis model. Cancer Res 1994;54(7 Suppl):1929s-33s.
10. Coussens LM, Werb Z. Inflammation and cancer. Nature 2002;420:860-7.
11. Hanahan D, Weinberg RA. Hallmarks of cancer: The next generation. Cell 2011;144:646-74.
12. Elinav E, Nowarski R, Thaiss CA, et al. Inflammation-induced cancer: Crosstalk between tumours, immune cells and microorganisms. Nat Rev Cancer 2013;13:759-71.
13. Atsumi T, Singh R, Sabharwal L, et al. Inflammation amplifier, a new paradigm in cancer biology. Cancer Res 2014;74:8-14.
14. Zhang F, Altorki NK, Wu YC, et al. Duodenal reflux induces cyclooxygenase-2 in the esophageal mucosa of rats: Evidence for involvement of bile acids. Gastroenterology 2001;121:1391-9.
15. McAdam E, Haboubi HN, Griffiths AP, et al. Reflux composition influences the level of NF-kB activation and upstream kinase preference in oesophageal adenocarcinoma cells. Int J Cancer 2014;8:527-35.
16. Matsuzaki J, Suzuki H, Tsugawa H, et al. Bile acids increase levels of microRNAs 221 and 222, leading to degradation of CDX2 during esophageal carcinogenesis. Gastroenterology 2013;145:1300-11.
17. Goncąlves RB, Coletta RD, Silvério KG, et al. Impact of smoking on inflammation: Overview of molecular mechanisms. Inflamm Res 2011;60:409-24.
18. Shiels MS, Katki HA, Freedman ND, et al. Cigarette smoking and variations in systemic immune and inflammation markers. J Natl Cancer Inst 2014;106:pii: Dju294.
19. Vlachopoulos C, Aznaouridis K, Bratsas A, et al. Arterial stiffening and systemic endothelial activation induced by smoking: The role of COX-1 and COX-2. Int J Cardiol 2015;189:293-8.
20. Renehan AG, Zwahlen M, Egger M. Adiposity and cancer risk: New mechanistic insights from epidemiology. Nat Rev Cancer 2015;15:484-98.
21. Levine DM, Ek WE, Zhang R, et al. A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. Nat Genet 2013;45:1487-93.
22. Su Z, Gay LJ, Strange A, et al. Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. Nat Genet 2012;44:1131-6.
23. Ek WE, Levine DM, D'Amato M, et al. Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett's esophagus, and gastroesophageal reflux. J Natl Cancer Inst 2013;105:1711-18.
24. Palles C, Chegwidden L, Li X, et al. Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett's Esophagus. Gastroenterology 2015;148:367-78.
25. Becker J, May A, Gerges C, et al. Supportive evidence for FOXP1, BARX1, and FOXF1 as genetic risk loci for the development of esophageal adenocarcinoma. Cancer Med 2015;4:1700-4.
26. Jin L, Zuo XY, Su WY, et al. Pathway-based analysis tools for complex diseases: A review. Genomics Proteomics Bioinformatics 2014;12:210-20.
27. Buas MF, Levine DM, Makar KW, et al. Integrative post-genome-wide association analysis of CDKN2A and TP53 SNPs and risk of esophageal adenocarcinoma. Carcinogenesis 2014;35:2740-7.
28. Amos CI, Wang LEE, Lee JE, et al. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Hum Mol Genet 2011;20:5012-23.
29. Laurie CC, Doheny KF, Mirel DB, et al. Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol 2010;34:591-602.
30. Schottenfeld D, Beebe-Dimmer J. Chronic inflammation: A common and important factor in the pathogenesis of neoplasia. CA Cancer J Clin 2006;56:69-83.
31. Konturek PC, Nikiforuk A, Kania J, et al. Activation of NFkappaB represents the central event in the neoplastic progression associated with Barrett's esophagus: A possible link to the inflammation and overexpression of COX-2, PPARgamma and growth factors. Dig Dis Sci 2004;49:1075-83.
32. Poehlmann A, Kuester D, Malfertheiner P, et al. Inflammation and Barrett's carcinogenesis. Pathol Res Pract 2012;208:269-80.
33. Abdalla SI, Sanderson IR, Fitzgerald RC. Effect of inflammation on cyclooxygenase (COX)-2 expression in benign and malignant oesophageal cells. Carcinogenesis 2005;26:1627-33.
34. O'Riordan JM, Abdel-latif MM, Ravi N, et al. Proinflammatory cytokine and nuclear factor kappa-B expression along the inflammation-metaplasia-dysplasia-adenocarcinoma sequence in the esophagus. Am J Gastroenterol 2005;100:1257-64.
35. Delaneau O, Marchini J, Zagury JF. A linear complexity phasing method for thousands of genomes. Nat Methods 2012;9:179-81.
36. Hastie T, Tibshirani R, Friedman J. The elements of statistical learning. New York: Springer, 2009.
37. Pruim RJ, Welch RP, Sanna S, et al. LocusZoom: Regional visualization of genome-wide association scan results. Bioinformatics 2010;26:2336-7.
38. Evangelou E, Ioannidis JPA. Meta-analysis methods for genome-wide association studies and beyond. Nat Rev Genet 2013;14:379-89.
39. Tselepis C, Perry I, Dawson C, et al. Tumour necrosis factor-alpha in Barrett's oesophagus: A potential novel mechanism of action. Oncogene 2002;21:6071-81.
40. Kelner MJ, Bagnell RD, Montoya MA, et al. Structural organization of the microsomal glutathione S-transferase gene (MGST1) on chromosome 12p13.1-13.2. Identification of the correct promoter region and demonstration of transcriptional regulation in response to oxidative stress. J Biol Chem 2000;275:13000-6.
41. Johansson K, Järvliden J, Gogvadze V, et al. Multiple roles of microsomal glutathione transferase 1 in cellular protection: A mechanistic study. Free Radic Biol Med 2010;49:1638-45.
42. Nebert DW, Vasiliou V. Analysis of the glutathione S-transferase (GST) gene family. Hum Genomics 2004;1:460-4.
43. Jakobsson PJ, Thorén S, Morgenstern R, et al. Identification of human prostaglandin E synthase: A microsomal, glutathione-dependent, inducible enzyme, constituting a potential novel drug target. Proc Natl Acad Sci USA 1999;96:7220-5.
44. Zhang H, Liao LH, Liu SM, et al. Microsomal glutathione S-transferase gene polymorphisms and colorectal cancer risk in a Han Chinese population. Int J Colorectal Dis 2007;22:1185-94.
45. Ward LD, Kellis M. HaploReg: A resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res 2012;40(Database issue):D930-4.
46. Westra HJ, Peters MJ, Esko T, et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet 2013;45:1238-43.
47. "The-GTEx-Consortium." The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. Science 2015;348:648-60.
48. Peng DF, Razvi M, Chen H, et al. DNA hypermethylation regulates the expression of members of the Mu-class glutathione S-transferases and glutathione peroxidases in Barrett's adenocarcinoma. Gut 2009;58:5-15.
49. Moons LMG, 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.
50. Kristinsson JO, van Westerveld P, te Morsche RHM, et al. Cyclooxygenase-2 polymorphisms and the risk of esophageal adeno-or squamous cell carcinoma. World J Gastroenterol 2009;15:3493-7.