2015-02-10 21:30:51 UTC

Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett’s Esophagus

Feb. 12, 2015

Reporting in Gastroenterology, Claire Palles and colleagues identified two loci associated with risk of Barrett's esophagus and provided data to support a further locus.

Barrett's esophagus (BE) increases the risk of esophageal adenocarcinoma (EAC). Claire Palles and colleagues found the risk of BE has been associated with single nucleotide polymorphisms (SNPs) on chromosome 6p21 (within the HLA region) and on 16q23, where the closest protein-coding gene is FOXF1. Subsequently, the Barrett's and Esophageal Adenocarcinoma Consortium (BEACON) identified risk loci for BE and EAC near CRTC1 and BARX1, and within 100 kb of FOXP1. The researchers aimed to identify further SNPs that increased BE risk and to validate previously reported associations. Reporting in Gastroenterology, they identified two loci associated with risk of BE and provided data to support a further locus. The genes they found to be associated with risk for BE encode transcription factors involved in thoracic, diaphragmatic, and esophageal development or proteins involved in the inflammatory response.

Gastroenterology 2015: 148(2): 367-378

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