OMIX008354

1Summary
Title Revealing multiple susceptibility mechanisms in gastric cancer through genetic regulation of expression, alternative splicing and polyadenylation
Description We performed transcriptome sequencing on gastric tissues from 262 Han Chinese participants in the Yangzhou Endoscopy Screening (YES) program. Through genome-wide eQTL, sQTL and apaQTL analyses, we identified 4,636 eGenes, 1,422 sGenes and 511 apaGenes in gastric tissues, with approximately 55.3% of sGenes and 49.5% of apaGenes being distinct from eGenes. Integrating QTL data with gastric cancer GWAS (10,254 cases and 10,914 controls), we observed significant enrichment of gastric cancer risk-related variants in all three QTLs, with stronger enrichment observed in sQTLs and apaQTLs. Expression-based transcriptome-wide association study (TWAS), splicing-based TWAS (spTWAS) and alternative polyadenylation-based TWAS (apaTWAS) identified a total of 38 susceptibility genes for gastric cancer.
Organism Homo sapiens
Data Type Expression Profiling
Data Accessibility Controlled-access
BioProject PRJCA033936
Release Date 2025-12-22
Submitter Guangfu Jin (guangfujin@njmu.edu.cn)
Organization Nanjing Medical University
Submission Date 2024-12-20
2Files & Download

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File ID File Title Number/Samples File Type File Size File Suffix Download
OMIX008354-01 apaQTLs from bulk RNA-seq 1 Expression Profiling 5.07 GB txt.gz Controlled
OMIX008354-02 sQTLs from bulk RNA-seq 1 Expression Profiling 10.43 GB txt.gz Controlled
OMIX008354-03 eQTLs from bulk RNA-seq 1 Expression Profiling 2.56 GB txt.gz Controlled
3Relevant Publications
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