Genome-wide association study (GWAS)

Overview

Population-level study design interrogating common germline variants (SNPs) across the genome for association with cancer risk or other phenotypes. Identifies susceptibility loci that may inform risk stratification and biological mechanisms.

Used by

• Referenced in HCC genomic landscape review as the source of susceptibility loci associated with HBV- or HCV-related HCC risk, including SNPs at MICA, DEPDC5, KIF1B, UBE4B, PGD, DLC1, STAT4, and EGF (rs4444903); authors note most HCC GWAS suffer from poor control selection, retrospective design, and lack of cross-ancestry validation PMID:24735922.
• GWAS studies cited as a method for exploring gene-environment interactions in non-Caucasian young-onset NSCLC populations, though noted as sparse for Indian and Asian cohorts; the review calls for dedicated GWAS efforts in these populations PMID:27346245
• 374 prostate-cancer GWAS risk loci screened by SNPs-seq to identify functional SNPs showing allele-specific protein binding; rs4519489 (in LD with lead SNPs rs9287719, R²=0.67; and rs1990613, R²=0.8) was nominated as the causal variant at the 2p25 locus PMID:28927585

Notes

• HCC GWAS findings require replication in well-controlled, cross-ancestry cohorts; most published loci are derived from HBV- or HCV-predominant Asian populations PMID:24735922.

Sources

This page was processed by entity-page-writer on 2026-05-11. - PMID:27346245

This page was processed by entity-page-writer on 2026-05-15. - PMID:28927585

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