rs13361707

This case-control study of 1,115 gastric cancer cases and 1,172 Eastern Chinese controls identified six SNPs (rs13361707, rs2294008, rs4072037, rs3762272, rs2274223, rs80142782) associated with increased gastric cancer risk with ORs ranging from 1.19–1.47. A predictive model combining these genetic variants with BMI achieved an AUC of 0.684 compared to 0.653 for BMI alone, and revealed a gene-environment interaction between low BMI and genetic risk variants.

Pathway-based GWAS in 1625 Chinese Han gastric cancer cases and 2100 controls identified three SNPs in MAP2K1 significantly associated with gastric cancer risk: rs4287513 (OR=1.30, P=1.92×10⁻³), rs76906202 (OR=0.87, P=3.72×10⁻³, protective), and rs11631448 (OR=1.21, P=6.74×10⁻³). eQTL analysis confirmed these variants regulate MAP2K1 expression, and low MAP2K1 expression was associated with poor survival in gastric cancer patients.

This fine-mapping association study in 1926 European gastric cancer (GC) patients and 2012 controls confirmed associations at chromosome 5p13 (rs6872282, P=2.53×10⁻⁴, OR=1.22) and 8q24 (rs2585176, P=1.09×10⁻⁹, OR=1.34) and characterized them through eQTL analysis. The study found cis-eQTL effects for PTGER4 upregulation (5p13, P=9.27×10⁻¹¹) and PSCA upregulation (8q24, P=2.17×10⁻⁴⁷), plus trans-eQTL effects for MBOAT7 downregulation (8q24, P=1.99×10⁻⁹) in GC risk allele carriers.

This case-control study examined associations between five haplotype-tagging SNPs in the AMPKα1 (PRKAA1) gene and coronary artery disease (CAD) risk in 404 Chinese Han type 2 diabetic patients (260 CAD cases, 144 controls). The minor allele C at rs3805489 was protective against CAD (OR 0.67, 95% CI 0.48-0.92, p=0.015). A significant synergistic interaction was found between smoking and rs3805489 genotype, with smokers carrying the AA genotype having threefold higher CAD risk compared to non-smokers with AC/CC genotypes (OR 3.02, 95% CI 1.39-6.57, p=0.005).