An insertion variant of MGMT disrupts a STAT1 binding site and confers susceptibility to glioma.

ABSTRACT:

Background

O⁶-methylguanine-DNA methyltransferase (MGMT) is a pivotal enzyme for repairing DNA alkylation damage. Epigenetic modification of MGMT has been well known as a promising prognostic biomarker for glioma. However, the significance of genetic variations of MGMT in glioma carcinogenesis has not been fully elucidated.

Methods

The associations between expression quantitative trait loci (eQTLs) of MGMT and glioma susceptibility were evaluated in a case-control study of 1056 individuals. The function of susceptibility locus for glioma was explored with a set of biochemical assays, including luciferase reporter gene, EMSA and supershift EMSA, ChIP, and siRNA knockdown.

Results

We found that rs11016798 TT genotype was associated with a significantly decrea

SUBMITTER: Huang L 

PROVIDER: S-EPMC8454171 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature