title: Genetic susceptibility to Barrett's oesophagus: Lessons from early studies.
abstract: Barrett's oesophagus (BO) is a common condition, predisposing strongly to the development of oesophageal adenocarcinoma (OAC). Consequently, there has been considerable effort to determine the processes involved in the development of BO metaplasia, and ultimately develop markers of patients at risk. Whilst a number of robust acquired risk factors have been identified, a genetic component to these and the apparent increased susceptibility of certain individuals has long been suspected. This has been evidenced in part by linkage studies, but subsequently two recent genome-wide association studies (GWAS) have suggested mechanisms underlying the heritability of BO, as well as providing the first direct evidence at modern levels of statistical significance. This review discusses BO heritability, in addition to that of individual variants and genes reported to be associated with BO to date. Through this, we identify a number of plausible associations, although often tempered by issues of methodology, and discuss the priorities and need for future research.
authors.affiliation: Molecular and Population Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK; Oxford OesophagoGastric Centre, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; NIHR Oxford Biomedical Research Centre, The Joint Research Office, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
authors.forename: John M
authors.initials: JM
authors.lastname: Findlay
authors.affiliation: NIHR Oxford Biomedical Research Centre, The Joint Research Office, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
authors.forename: Mark R
authors.initials: MR
authors.lastname: Middleton
authors.affiliation: Molecular and Population Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK; NIHR Oxford Biomedical Research Centre, The Joint Research Office, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
authors.forename: Ian
authors.initials: I
authors.lastname: Tomlinson
keywords: Barrett’s oesophagus; biomarkers; genetic susceptibility; genetics; oesophageal adenocarcinoma