We found that the rs4072037 AG genotype was significantly associated with a reduced risk of gastric cancer [odds ratios (OR) = 0.78; 95% confidence interval (CI) = 0.67-0.91 for AG vs AA].
Further, subgroup analysis based on ethnicity suggested MUC1 rs4072037 polymorphism had a subtly reduced cancer risk among Asian population, and stratified analysis by cancer types showed significantly decreased risk of gastric cancer in all genetic models.
The aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A > G in PLCE1 at 10q23 are associated with a risk of gastric cancer in a Korean population.
The G allele of MUC1 rs4072037 was significantly associated with a decreased risk of GC (OR = 0.72, 95 % CI 0.68-0.77; P = 7.82 × 10(-25)), as compared with A allele.
These findings indicate that the three SNPs (rs4072037, rs13361707 and rs2274223) identified in the GWASs may interact with H. pylori infection to increase the risk of GC.
Recently, a genome-wide association study of gastric cancer (GC) reported the significant association of seven genetic variants (rs4072037 and rs4460629 on 1q22; rs753724, rs11187842, rs3765524, rs2274223, and rs3781264 on 10q23) with GC in a Chinese population.
Imputation analyses also confirmed previously reported associations of rs2294008 and rs2976392 on 8q24, rs4072037 on 1q22 and rs13042395 on 20p13 with non-cardia gastric cancer susceptibility in the Han Chinese population.
We found that rs4072037 at 1q22 and rs2274223 at 10q23 were significantly associated with risk of GC with per allele odds ratio (OR) of 0.72 [95% confidence interval (CI): 0.63-0.81; P = 2.98 × 10(-7)] and 1.42 (95% CI: 1.27-1.58; P = 9.68 × 10(-10)), respectively.
Overall, the MUC1 rs4072037 polymorphism was associated with risk of c</span>ancer in all genetic models (G vs A: OR = 0.71, 95%CI: 0.63-0.80, p<0.01; GA vs AA: OR = 0.61, 95%CI:0.55-0.67, p<0.01; GG vs AA: OR = 0.58, 95%CI: 0.47-0.71, p<0.01; AG+AA vs GG: OR = 0.60, 95%CI: 0.55-0.60, p<0.01; GG vs AG+AA: OR = 0.70, 95%CI: 0.58-0.85, p<0.01).
Overall, the MUC1 rs4072037 polymorphism was associated with risk of c</span>ancer in all genetic models (G vs A: OR = 0.71, 95%CI: 0.63-0.80, p<0.01; GA vs AA: OR = 0.61, 95%CI:0.55-0.67, p<0.01; GG vs AA: OR = 0.58, 95%CI: 0.47-0.71, p<0.01; AG+AA vs GG: OR = 0.60, 95%CI: 0.55-0.60, p<0.01; GG vs AG+AA: OR = 0.70, 95%CI: 0.58-0.85, p<0.01).
<b>Conclusion:</b> MUC1 rs4072037 polymorphism is associated with decreased cancer risk and can probably be used as a tumor marker, especially for gastric cancer and for Asians.
Overall, in the present study SNPs of PSCA (rs2294008, rs2976392), MUC1 (rs4072037) and PLCE1 (rs2274223) genes were not associated with the presence of CRC.
For MUC1 SNP, rs4072037, women homozygous for the G variant had a non-significantly decreased risk for serous invasive types but elevated risk for serous borderline tumors, mucinous borderline and invasive tumors, and endometrioid tumors.