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Publication Detail
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett’s esophagus.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    article
  • Authors:
    Consortium TEAG, The WTCCC2, Su Z, Gay LJ, Strange A, Palles C, Band G, Whiteman DC, Lescai F, Langford C, Nanji M, Edkins S, van der Winkel A, Levine D, Sasieni P, Bellenguez C, Howarth K, Freeman C, Trudgill N, Tucker AT, Pirinen M, Peppelenbosch MP, van der Laan LJW, Kuipers EJ, Drenth JPH, Peters WH, Reynolds JV, Kelleher DP, McManus R, Grabsch H, Prenen H, Bisschops R, Krishnadath K, Siersema PD, van Baal JWPM, Middleton M, Petty R, Gillies R, Burch N, Bhandari P, Paterson S, Edwards C, Penman I, Vaidya K, Ang Y, Murray I, Patel P, Ye W, Mullins P, Wu AH, Bird NC, Dallal H, Shaheen NJ, Murray LJ, Koss K, Bernstein L, Romero Y, Hardie LJ, Zhang R, Winter H, Corley DA, Panter S, Risch HA, Reid BJ, Sargeant I, Gammon MD, Smart H, Dhar A, McMurtry H, Ali H, Liu G, Casson AG, Chow W-H, Rutter M, Tawil A, Morris D, Nwokolo C, Isaacs P, Rodgers C, Ragunath K, Macdonald C, Haigh C, Monk D, Davies G, Wajed S, Johnston D, Gibbons M, Cullen S, Church N, Langley R, Griffin M, Alderson D, Deloukas P, Hunt SE, Gray E, Dronov S, Potter SC, Tashakkori-Ghanbaria A, Anderson M, Brooks C, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Markus HS, Mathew CG, Palmer CNA, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood N, Trynka G, Wijmenga C, Cazier J-B, Atherfold P, Nicholson AM, Gellatly NL, Glancy D, Cooper SC, Cunningham D, Lind T, Hapeshi J, Ferry D, Rathbone B, Brown J, Love S, Attwood S, Macgregor S, Watson P, Sanders S, Ek W, Harrison RF, Moayyedi P, de Caestecker J, Barr H, Stupka E, Vaughan TL, Peltonen L, Spencer CCA, Tomlinson I, Donnelly P, Jankowski JAZ
  • Publication date:
    09/2012
  • Pagination:
    1131, 1136
  • Journal:
    Nature Genetics
  • Volume:
    44
  • Article number:
    10
  • Language:
    English
  • Notes:
    affiliation: 1] Wellcome Trust Centre for Human Genetics, Oxford, UK. [2]. pmid: 22961001 read: Yes rating: 0 date-added: 2012-11-01T17:10:55GMT date-modified: 2012-12-31T14:38:39GMT local-url: file://localhost/Users/francesco/Dropbox/Papers2/Articles/2012/Nat%20Genet/Nat%20Genet2012_The%20Esophageal%20Adenocarcinoma%20Genetics%20Consortium_Common%20variants%20at%20the%20MHC%20locus%20and%20at%20chromosome%2016q24.1%20predispose%20to%20Barrett’s%20esophagus.pdf file: Nat Genet2012_The Esophageal Adenocarcinoma Genetics Consortium_Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett’s esophagus.pdf:/Users/francesco/Dropbox/Papers2/Articles/2012/Nat Genet/Nat Genet2012_The Esophageal Adenocarcinoma Genetics Consortium_Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett’s esophagus.pdf:application/pdf uri: papers2://publication/doi/10.1038/ng.2408
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 (P(combined) = 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 (P(combined) = 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.
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