A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer.

ABSTRACT:

Background

Pancreatic cancer (PC) is a complex disease in which both non-genetic and genetic factors interplay. To date, 40 GWAS hits have been associated with PC risk in individuals of European descent, explaining 4.1% of the phenotypic variance.

Methods

We complemented a new conventional PC GWAS (1D) with genome spatial autocorrelation analysis (2D) permitting to prioritize low frequency variants not detected by GWAS. These were further expanded via Hi-C map (3D) interactions to gain additional insight into the inherited basis of PC. In silico functional analysis of public genomic information allowed prioritization of potentially relevant candidate variants.

Results

We identified several new variants located in genes for which there is experimental evidence of their

SUBMITTER: Lopez de Maturana E 

PROVIDER: S-EPMC7849104 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature