Department of Molecular and Cell Biology, Faculty of Basic Sciences, University of Mazandaran, Babolsar, Mazandaran, Iran.
Immunogenetic Research center, Molecular and Cell Biology Research Center, Medical Faculty, Mazandaran University of Medical Sciences, Sari, Mazandaran, 48166-13485, Iran.
BMC Med Genet. 2020 Jul 13;21(1):148. doi: 10.1186/s12881-020-01085-z.
Gastric cancer is one of the four most common cancer that causing death worldwide. Genome-Wide Association Studies (GWAS) have shown that genetic diversities MUC1 (Mucin 1) and PSCA (Prostate Stem Cell Antigen) genes are involved in gastric cancer. The aim of this study was avaluating the association of rs4072037G > A polymorphism in MUC1 and rs2294008 C > T in PSCA gene with risk of gastric cancer in northern Iran.
DNA was extracted from 99 formalin fixed paraffin-embedded (FFPE) tissue samples of gastric cancer and 96 peripheral blood samples from healthy individuals (sex matched) as controls. Two desired polymorphisms, 5640G > A and 5057C > T for MUC1 and PSCA genes were genotyped using PCR-RFLP method.
The G allele at rs4072037 of MUC1 gene was associated with a significant decreased gastric cancer risk (OR = 0.507, 95% CI: 0.322-0.799, p = 0.003). A significant decreased risk of gastric cancer was observed in people with either AG vs. AA, AG + AA vs. GG and AA+GG vs. AG genotypes of MUC1 polymorphism (OR = 4.296, 95% CI: 1.190-15.517, p = 0.026), (OR = 3.726, 95% CI: 2.033-6.830, p = 0.0001) and (OR = 0.223, 95% CI: 0.120-0.413, p = 0.0001) respectively. Finally, there was no significant association between the PSCA 5057C > T polymorphism and risk of gastric cancer in all genetic models.
Results indicated that the MUC1 5640G > A polymorphism may have protective effect for gastric cancer in the Northern Iran population and could be considered as a potential molecular marker in gastric cancer.
胃癌是全球导致死亡的四大常见癌症之一。全基因组关联研究（GWAS）表明，MUC1（粘蛋白 1）和 PSCA（前列腺干细胞抗原）基因的遗传多样性与胃癌有关。本研究旨在评估 MUC1 基因中的 rs4072037G>A 多态性和 PSCA 基因中的 rs2294008C>T 多态性与伊朗北部胃癌风险的关联。
从 99 例福尔马林固定石蜡包埋（FFPE）胃癌组织样本和 96 例健康个体（性别匹配）外周血样本中提取 DNA。使用 PCR-RFLP 方法对 MUC1 和 PSCA 基因的两个目标多态性 5640G>A 和 5057C>T 进行基因分型。
MUC1 基因 rs4072037 的 G 等位基因与胃癌风险显著降低相关（OR=0.507，95%CI：0.322-0.799，p=0.003）。在 MUC1 多态性的 AG vs. AA、AG+AA vs. GG 和 AA+GG vs. AG 基因型中，均观察到胃癌风险显著降低（OR=4.296，95%CI：1.190-15.517，p=0.026），（OR=3.726，95%CI：2.033-6.830，p=0.0001）和（OR=0.223，95%CI：0.120-0.413，p=0.0001）。最后，在所有遗传模型中，PSCA 5057C>T 多态性与胃癌风险均无显著关联。
结果表明，MUC1 5640G>A 多态性可能对伊朗北部人群的胃癌具有保护作用，可作为胃癌的潜在分子标志物。
