Construction and evaluation of the functional polygenic risk score for gastric cancer in a prospective cohort of the European population.

ABSTRACT:

Background

A polygenic risk score (PRS) derived from 112 single-nucleotide polymorphisms (SNPs) for gastric cancer has been reported in Chinese populations (PRS-112). However, its performance in other populations is unknown. A functional PRS (fPRS) using functional SNPs (fSNPs) may improve the generalizability of the PRS across populations with distinct ethnicities.

Methods

We performed functional annotations on SNPs in strong linkage disequilibrium (LD) with the 112 previously reported SNPs to identify fSNPs that affect protein-coding or transcriptional regulation. Subsequently, we constructed an fPRS based on the fSNPs by using the LDpred2-infinitesimal model and then analyzed the performance of the PRS-112 and fPRS in the risk prediction of gastric cancer in 457,521 Europ

SUBMITTER: Gu Y 

PROVIDER: S-EPMC10344526 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature