Intronic variant of EGFR is associated with GBAS expression and survival outcome of early-stage non-small cell lung cancer.

ABSTRACT:

Background

Genome-wide association studies have indicated that most of the currently identified disease and trait-associated single nucleotide polymorphisms (SNPs) are intronic or intergenic. RegulomeDB is a recently developed database that provides functional annotations for regulatory features of SNPs located in non-coding regions. We evaluated the potential regulatory SNPs in the EGFR gene region using RegulomeDB and their associations with prognosis after surgery in non-small cell lung cancer (NSCLC) patients.

Methods

A total of 698 patients with surgically resected NSCLC were enrolled and seven SNPs were selected based on the RegulomeDB database. All SNPs were genotyped using SEQUENOM MassARRAY iPLEX assay.

Results

Among the seven SNPs evaluated, rs9642391 (EGFR

SUBMITTER: Hong MJ 

PROVIDER: S-EPMC6068432 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature