Multitrait GWAS and functional validation reveal genetic loci for gastric cancer - PubMed
4 hours ago
- #GWAS
- #Genetic Loci
- #Gastric Cancer
- Gastric cancer is a leading cause of cancer-related death, especially in East Asia.
- Genome-wide association study (GWAS) data from BioBank Japan reveals shared genetic associations between gastric cancer and 25 other phenotypes, notably cardiovascular conditions like angina pectoris and myocardial infarction.
- Mendelian randomization supports a causal relationship between these traits and gastric cancer risk.
- Multitrait GWAS analysis identifies a novel pleiotropic locus at 12q22 (rs12814712), shared between gastric cancer and cardiovascular traits.
- Functional experiments show the risk allele at rs12814712 reduces transcriptional activity and downregulates nearby genes, particularly VEZT.
- Overexpression of VEZT and NR2C1 in gastric cancer cells suppresses proliferation and migration, while their knockdown promotes malignancy.
- The study highlights rs12814712 as a novel susceptibility locus for gastric cancer and its regulatory role in disease-related gene networks.