Two recent genome-wide association studies in Asians have reported the association between the PSCA (prostate stem cell antigen) rs2294008C>T gene polymorphism and two Helicobacter pylori infection-related diseases such as gastric cancer (GC) and duodenal ulcer (DU).
Two single nucleotide polymorphisms (SNPs) (rs2976392 and rs2294008) in the PSCA gene were recently identified as the susceptibility loci of gastric cancer, especially in diffuse type.
We conducted a case-control association study of <i>H. pylori</i>-infected gastritis and gastric cancer. rs2294008 was associated with the progression to chronic active gastritis (<i>P =</i> 9.4 × 10<sup>-5</sup>; odds ratio = 3.88, TT + TC vs CC genotype), but not with <i>H. pylori</i> infection <i>per se</i> nor with the progression from active gastritis to gastric cancer.
We found that both rs2294008 (CT vs. CC, OR = 1.55, 95% CI = 1.20-1.99, <i>P</i><0.001 and CT+TT vs. CC, OR = 1.38, 95% CI = 1.09-1.74, <i>P</i>=0.008) and rs2976392 (GA vs. GG, OR = 1.61, 95% CI = 1.25-2.07, <i>P</i><0.001 and GA+AA vs. GG, OR = 1.52, 95% CI = 1.20-1.92, <i>P</i><0.001) were associated with an increased gastric cancer.
We found that the T allele of rs2294008, an intronic variant of the PSCA gene at 8q24 that was previously associated with an increased risk of gastric cancer, was inversely associated with a decreased risk of ESCC (odds ratio = 0.90; 95% confidence interval, 0.81-0.99; P = 0.034).