Association of MUC1 5640G>A and PSCA 5057C>T polymorphisms with the risk of gastric cancer in Northern Iran.

4区医学 Q4 Medicine BMC Medical Genetics Pub Date : 2020-07-13 DOI:10.1186/s12881-020-01085-z

Reza Alikhani, Ali Taravati, Mohammad Bagher Hashemi-Soteh

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Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

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伊朗北部 MUC1 5640G>A 和 PSCA 5057C>T 多态性与胃癌风险的关系。

背景介绍胃癌是导致全球死亡的四大常见癌症之一。全基因组关联研究（GWAS）表明，MUC1（黏蛋白 1）和 PSCA（前列腺干细胞抗原）基因的遗传多样性与胃癌有关。本研究旨在评估伊朗北部地区 MUC1 基因 rs4072037G > A 多态性和 PSCA 基因 rs2294008 C > T 多态性与胃癌风险的关系：从 99 份福尔马林固定石蜡包埋（FFPE）的胃癌组织样本和 96 份作为对照的健康人（性别匹配）的外周血样本中提取 DNA。采用 PCR-RFLP 方法对 MUC1 和 PSCA 基因的两个预期多态性 5640G > A 和 5057C > T 进行了基因分型：结果：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）。MUC1基因多态性的AG与AA、AG+AA与GG、AA+GG与AG基因型的人患胃癌的风险分别明显降低（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明显关联：结果表明，在伊朗北部人群中，MUC1 5640G > A 多态性可能对胃癌有保护作用，可被视为胃癌的潜在分子标记物。

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BMC Medical Genetics 医学-遗传学

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审稿时长

12 months

期刊介绍： BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease. Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.