Chronic gastroesophageal reflux disease shares genetic background with esophageal adenocarcinoma and Barrett's esophagus

This study used the linkage disequilibrium (LD) score regression and genomic profile risk scoring approaches to investigate the contribution of multiple common single-nucleotide polymorphisms (SNPs) to the risk of GERD, and the extent of genetic overlap between GERD and BE or EA. Using LD score regression, we estimated an overall phenotypic variance of 7% (95% CI 3–11%) for GERD explained by all the genotyped SNPs. A genetic correlation of 77% (s.e. = 24%, P = 0.0012) between GERD and BE and 88% between GERD and EA (s.e. = 25%, P = 0.0004) was estimated using the LD score regression approach. Results from the genomic profile risk scoring approach, as a robustness check, were broadly similar to those from the LD score regression. This study provides the first evidence for a polygenic basis for GERD and supports for a polygenic overlap between GERD and BE, and GERD and EA.

Source: Human Molecular Genetics - February 5, 2016 Category: Genetics & Stem Cells Authors: Gharahkhani, P., Tung, J., Hinds, D., Mishra, A., Barrett's and Esophageal Adenocarcinoma Consortium (BEACON), Vaughan, T. L., Whiteman, D. C., MacGregor, S., on behalf of the BEACON study investigators Tags: ASSOCIATION STUDIES ARTICLES Source Type: research