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Mapping Genetic Regulation of Transcription to Identify Functional Variants and Genes Associated with Pancreatic Cancer Risk - PubMed

7 hours ago
  • #Pancreatic Cancer
  • #GWAS
  • #eQTL
  • Pancreatic cancer is a highly lethal malignancy with unresolved genetic links from GWAS.
  • A genome-wide regulatory map was created using eQTL analysis of 482 pancreatic tissues.
  • Integration with GWAS meta-analysis identified 82 significant variants and 15 target genes for pancreatic cancer risk.
  • The variant rs11102484 was validated in an independent cohort, showing a protective effect against pancreatic cancer.
  • Functional assays revealed that the G allele of rs11102484 impairs ZNF263 binding, increasing ST7L expression.
  • Elevated ST7L suppresses pancreatic cancer cell proliferation by dampening AKT/β-catenin signaling.
  • The study advances understanding of genetic regulation in pancreatic cancer risk and biology.