Polymorphisms within autophagy-related genes as susceptibility biomarkers for pancreatic cancer: A meta-analysis of three large European cohorts and functional characterization.

ABSTRACT: Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers with patients having unresectable or metastatic disease at diagnosis, with poor prognosis and very short survival. Given that genetic variation within autophagy-related genes influences autophagic flux and susceptibility to solid cancers, we decided to investigate whether 55,583 single nucleotide polymorphisms (SNPs) within 234 autophagy-related genes could influence the risk of developing PDAC in three large independent cohorts of European ancestry including 12,754 PDAC cases and 324,926 controls. The meta-analysis of these populations identified, for the first time, the association of the BID_rs9604789 variant with an increased risk of developing the disease (OR_Meta = 1.31, p = 9.67 × 10^-6

SUBMITTER: Galvez-Montosa F 

PROVIDER: S-EPMC11578083 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature