PSCArs2294008 T polymorphism increases the risk of bladder cancer in Bai, Dai, and Han ethnicity in China and a potential mechanism

• Published in: Genes & genomics Vol. 40; no. 5; pp. 531 - 541
• Main Authors: Yang, Junfeng, Li, Wei, Zhang, Zhuorui, Shen, Jie, Zhang, Ningnan, Yang, Min, Yang, Maolin, Yu, Yanhong
• Format: Journal Article
• Language: English
• Published: Seoul The Genetics Society of Korea 01.05.2018; Springer Nature B.V; 한국유전학회
• Subjects: Alleles; Animal Genetics and Genomics; Biomedical and Life Sciences; Bladder cancer; Cancer; Cell cycle; Cell growth; Cell migration; Cell proliferation; China; genotype; Genotype & phenotype; Genotypes; Health risk assessment; Human Genetics; Invasiveness; Life Sciences; Microbial Genetics and Genomics; Minority & ethnic groups; nationalities and ethnic groups; neoplasm cells; Overexpression; Plant Genetics and Genomics; Research Article; Ribonucleic acid; risk; RNA; tissues; urinary bladder neoplasms; 생물학; China; Cell proliferation; PSCA rs2294008 (C/T) polymorphism; Bladder cancer; Over-expression; Cell migration; Cell apoptasis
• DOI: 10.1007/s13258-018-0653-9
• ISSN: 1976-9571; 2092-9293

The aim of this study is to make a comparative evaluation on association of PSCArs2294008 C/T polymorphism with the risk of bladder cancer in Bai, Dai, and Han people in China. A potential mechanism of the T allele risk was also investigated. T allele increased the occurring risk of bladder cancer in Han (OR 1.34; 95% CI 1.17–1.69), Dai, (OR 1.33; 95% CI 1.12–1.70), and Bai (OR 1.14; 95% CI 1.08–1.57) people. T genotype was also observed to associate with invasive bladder cancer in all the three populations (Bai, OR 1.15, 95% CI 1.07–1.87; Dai, OR 1.17, 95% CI 1.05–2.23; Han, OR 1.22, 95% CI 1.10–2.09). PSCA m-RNA levels in T genotype bladder cancer tissues were significantly lower than those in C genotype. An enhancement of PSCA m-RNA level by over-expressing C or T genotype in bladder cancer cells both decreased the cell proliferation and migration, but not affected cell cycle. The increased cell apoptasis due to the over-expression of the two variants was observed. Those change of cell proliferation, migration, and apoptasis was more remarkable in over-expressed C genotype cells than those in over-expressed T genotype. T genotype was genetically high risk to the occurrence of bladder cancer. The decreased PSCA m-RNA levels were involved in the progress of bladder cancer. T allele takes more responsibility for PSCA m-RNA down-regulation to promote cell proliferation and migration and hinder cell apoptasis, thus leading to a higher risk.