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. 2024 Nov;46(11):1281-1291.
doi: 10.1007/s13258-024-01523-9. Epub 2024 Jun 8.

Association between PDCD6-VNTR polymorphism and urinary cancer susceptibility

Gi-Eun Yang #  1   2 , Min-Hye Kim #  1 , Mi-So Jeong  1   3 , Sang-Yeop Lee  4 , Yung Hyun Choi  5 , Jong-Kil Nam  6 , Tae Nam Kim  7 , Sun-Hee Leem  8   9
Affiliations

Association between PDCD6-VNTR polymorphism and urinary cancer susceptibility

Gi-Eun Yang et al. Genes Genomics. 2024 Nov.

Abstract

Background: Programmed cell death 6 (PDCD6) is known to be involved in apoptosis and tumorigenesis. Given the reported association with urinary cancer susceptibility through SNP analysis, we further analyzed the entire genomic structure of PDCD6.

Methods: Three VNTR regions (MS1-MS3) were identified through the analysis of the genomic structure of PDCD6. To investigate the association between these VNTR regions and urinary cancer susceptibility, genomic DNA was extracted from 413 cancer-free male controls, 267 bladder cancer patients, and 331 prostate cancer patients. Polymerase chain reaction (PCR) was performed to analyze the PDCD6-MS regions. Statistical analysis was performed to determine the association between specific genotypes and cancer risk. In addition, the effect of specific VNTRs on PDCD6 expression was also confirmed using a reporter vector.

Results: Among the three VNTR regions, MS1 and MS2 exhibited monomorphism, while the MS3 region represented polymorphism, with its transmission to subsequent generations through meiosis substantiating its utility as a DNA typing marker. In a case-control study, the presence of rare alleles within PDCD6-MS3 exhibited significant associations with both bladder cancer (OR = 2.37, 95% CI: 1.33-4.95, P = 0.019) and prostate cancer (OR = 2.11, 95% CI: 1.03-4.36, P = 0.038). Furthermore, through luciferase assays, we validated the impact of the MS3 region on modulating PDCD6 expression.

Conclusions: This study suggests that the PDCD6-MS3 region could serve as a prognostic marker for urinary cancers, specifically bladder cancer and prostate cancer. Moreover, the subdued influence exerted by PDCD6-MS3 on the expression of PDCD6 offers another insight concerning the progression of urinary cancer.

Keywords: PDCD6; Bladder cancer; Polymorphism; Prostate cancer; VNTR.

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Conflict of interest statement

Declarations. Ethical approval: Cases with bladder cancer and controls were recruited from two different hospitals in the same city. The bioethics committees of Dong-A University Hospital, Pusan National University Hospital approved research plan and procedure: [Dong-A University Hospital (#IRB-06–10-02, #IRB-07–10-7; Busan, Korea), Pusan National University Hospital (#IRB-H-1706–002-007; #IRB-H-1804–002-065; Busan, Korea)]. Informed consent was obtained from all subjects and/or their legal guardians. Conflict of interest: All of authors declare that they have no competing interests.

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