Our study suggested rs2294008 in the PSCA gene to be associated with increased risk of gastric cancer and rs2070803 in MUC1 to play a protective role in a Chinese population.
Recently, three genome-wide association studies have identified the PSCA (prostate stem cell antigen) rs2294008 polymorphism (C > T) associated with susceptibility to gastric cancer, bladder cancer, and duodenal ulcers, highlighting its critical role in disease pathogenesis.
The PSCA rs2294008 C>T polymorphism may be acting through induction of gastric mucosal atrophy, finally leading to development of gastric ulcer and gastric cancer in PSCA rs2294008 T allele carriers, but not duodenal ulcer.
The variant C allele of the reference SNP rs2294008 in the PSCA gene was associated with a significantly reduced risk of GC (per allele-adjusted odds ratio [aOR], 0.51; 95% confidence interval [CI], 0.33-0.77; P = .002).
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.
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.