Functional Annotation and Gene Set Analysis of Gastric Cancer Risk Loci in a Korean Population.

ABSTRACT:

Purpose

We aimed to identify the associated single nucleotide polymorphisms (SNPs) with gastric cancer (GC) risk by genome-wide association study (GWAS) and to explore the pathway enrichment of implicated genes and gene-sets with expression patterns.

Materials and methods

The study population was comprised of 1,253 GC cases and 4,827 controls from National Cancer Center and an urban community of the Korean Genome Epidemiology Study and their genotyping was performed. SNPs were annotated, and mapped to genes to prioritize by three mapping approaches by functional mapping and annotation (FUMA). The gene-based analysis and gene-set analysis were conducted with full GWAS summary data using MAGMA. Gene-set pathway enrichment test with those prioritized genes were performed.

Re

SUBMITTER: Pyun H 

PROVIDER: S-EPMC10789951 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature