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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.

SUBMITTER: Findlay JM 

PROVIDER: S-EPMC4971784 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature

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Genetic susceptibility to Barrett's oesophagus: Lessons from early studies.

Findlay John M JM   Middleton Mark R MR   Tomlinson Ian I  

United European gastroenterology journal 20151013 4


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 b  ...[more]

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