文摘
Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC) represent two stages within the esophagitis-metaplasia-dysplasia-adenocarcinoma sequence. Previously genetic risk factors have been identified that confer risk to BE and EAC development. However, to which extent the genetic variants confer risk to different stages of the BE/EAC sequence remains mainly unknown. In this study we analyzed three most recently identified BE variants at the genes m>GDF7m> (rs3072), m>TBX5m> (rs2701108), and m>ALDH1A2m> (rs3784262) separately in BE and EAC samples in order to determine their risk effects during BE/EAC sequence. Our data show that rs3072 at m>GDF7m> and rs2701108 at m>TBX5m> are also associated with EAC and conclude that both loci confer disease risk also at later stages of the BE/EAC sequence. In contrast, rs3784262 at m>ALDH1A2m> was highly significantly associated with BE, but showed no association with EAC. Our data do not provide evidence that the m>ALDH1A2m> locus confers equal risk in early and late stages of BE/EAC sequence.