Alternative splicing of PSMD13 mediated by genetic variants is significantly associated with endometrial cancer risk.

ABSTRACT:

Objective

Accumulating evidence has shown that aberrant alternative splicing events are closely associated with the onset and development of cancer. However, whether genetic variants-associated alternative splicing is linked to risk of endometrial cancer remains largely uncertain.

Methods

We identified single nucleotide polymorphisms (SNPs) locates in the splicing number trait locus (sQTL) of endometrial cancer using the CancerSplicing QTL database. In parallel with bioinformatics analysis, we conducted a case-control study comprising 2,000 cases and 2,013 controls to assess the association between identified SNP which possesses mRNA splicing function and endometrial cancer susceptibility. Furthermore, we used the Kaplan-Meier Plotter, The Human Protein Atlas, SPNR, and Spli

SUBMITTER: He S 

PROVIDER: S-EPMC10157344 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature