LSCC SNP variant regulates SOX2 modulation of VDAC3.

ABSTRACT: Lung squamous cell carcinoma (LSCC) is a genomically complex malignancy with no effective treatments. Recent studies have found a large number of DNA alterations such as SOX2 amplification in LSCC patients. As a stem cell transcription factor, SOX2 is important for the maintenance of pluripotent cells and may play a role in cancer. To study the downstream mechanisms of SOX2, we employed expression quantitative trait loci (eQTLs) technology to investigate how the presence of SOX2 affects the expression of target genes. We discovered unique eQTLs, such as rs798827-VDAC3 (FDR p-value = 0.0034), that are only found in SOX2-active patients but not in SOX2-inactive patients. SNP rs798827 is within strong linkage disequilibrium (r² = 1) to rs58163073, where rs58163073 [T]

SUBMITTER: Chyr J 

PROVIDER: S-EPMC5976468 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature