Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus.

Background & Aims: Barrett's esophagus (BE) increases the risk of esophageal adenocarcinoma (EAC). We found the risk to be 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 esophageal adenocarcinoma near CRTC1 and BARX1, and within 100 kb of FOXP1.

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.

Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (Pcombined=4.

Membranous Budd-Chiari syndrome in a well-anticoagulated patient.

We describe an unusual case of a 54-year-old woman who was diagnosed with a subacute Budd-Chiari syndrome due to membranous venous obstruction in the inferior vena cava. The unusual feature of this case was that she had been diagnosed with pulmonary emboli a few years earlier and was on lifelong warfarin with a therapeutic international normalised ratio. She was effectively treated by venoplasty.