Genetics of Barrett's: the bigger, the better.

Abstract

Barrett's esophagus (BE) is a common lesion that predisposes to a highly fatal esophageal adenocarcinoma (EA). There is evidence that BE or parts of its phenotype are genetically predisposed. Several single-nucleotide polymorphisms (SNPs) have been validated as predisposing to BE but the inherent flaws in the trial sizes, presence of controls and statistical power need circumspect analysis. The current paper links the interleukin 18 cytokine with BE and perhaps EA. Setting aside the issues above there are other issues such as the functional relevance of these SNPs for the association BE. There have been several case control series published indicating other genes. Furthermore, there are some sibling pairs study results with another set of genes identified. Invariably as useful as these studies are the size, scale to answer complex questions (complexity) and potential clinical significance are proportional in genomic studies. The new era of large-scale genome-wide studies in Barrett's and EA is needed. Shortly the first will be published showing two SNPs of significance in 7,838 Barrett's patients.