DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Barrett's esophagus. The EFO term Barrett's esophagus was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: Barrett's esophagus

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Z Su, LJ Gay, A Strange, C Palles, G Band, DC Whiteman, F Lescai, C Langford, M Nanji, S Edkins, A van der Winkel, D Levine, P Sasieni, C Bellenguez, K Howarth, C Freeman, N Trudgill, AT Tucker, M Pirinen, MP Peppelenbosch, LJ van der Laan, EJ Kuipers, JP Drenth, WH Peters, JV Reynolds, DP Kelleher, R McManus, H Grabsch, H Prenen, R Bisschops, K Krishnadath, PD Siersema, JW van Baal, M Middleton, R Petty, R Gillies, N Burch, P Bhandari, S Paterson, C Edwards, I Penman, K Vaidya, Y Ang, I Murray, P Patel, W Ye, P Mullins, AH Wu, NC Bird, H Dallal, NJ Shaheen, LJ Murray, K Koss, L Bernstein, Y Romero, LJ Hardie, R Zhang, H Winter, DA Corley, S Panter, HA Risch, BJ Reid, I Sargeant, MD Gammon, H Smart, A Dhar, H McMurtry, H Ali, G Liu, AG Casson, WH Chow, M Rutter, A Tawil, D Morris, C Nwokolo, P Isaacs, C Rodgers, K Ragunath, C MacDonald, C Haigh, D Monk, G Davies, S Wajed, D Johnston, M Gibbons, S Cullen, N Church, R Langley, M Griffin, D Alderson, P Deloukas, SE Hunt, E Gray, S Dronov, SC Potter, A Tashakkori-Ghanbaria, M Anderson, C Brooks, JM Blackwell, E Bramon, MA Brown, JP Casas, A Corvin, A Duncanson, HS Markus, CG Mathew, CN Palmer, R Plomin, A Rautanen, SJ Sawcer, RC Trembath, AC Viswanathan, N Wood, G Trynka, C Wijmenga, JB Cazier, P Atherfold, AM Nicholson, NL Gellatly, D Glancy, SC Cooper, D Cunningham, T Lind, J Hapeshi, D Ferry, B Rathbone, J Brown, S Love, S Attwood, S MacGregor, P Watson, S Sanders, W Ek, RF Harrison, P Moayyedi, J de Caestecker, H Barr, E Stupka, TL Vaughan, L Peltonen, CC Spencer, I Tomlinson, P Donnelly, JA Jankowski

TITLE:

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.

JOURNAL:

Nature genetics Oct 2012, Vol 44, pp. 1131-6

ABSTRACT:

Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (Pcombined=4.09×10(-9); odds ratio (OR)=1.21, 95% confidence interval (CI)=1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (Pcombined=2.74×10(-10); OR=1.14, 95% CI=1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus. PUBMED: 22961001
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