Putatively functional PLCE1 variants and susceptibility to esophageal squamous cell carcinoma (ESCC): A case-control study in eastern Chinese populations

Background A novel variant rs2274223 located in the phospholipase C epsilon 1 (PLCE1) gene was found to be associated with risk of esophageal squamous cell carcinoma (ESCC) by 2 large-scale genome-wide association studies (GWASs) in Chinese populations. In this study, we aimed to assess such an association in an eastern Chinese population and to address its possibly functional role in the etiology of ESCC.