Short rare minisatellite variant of BORIS-MS2 is related to bladder cancer susceptibility

  • Tae Nam Kim
  • Won-Tae Kim
  • Mi-So Jeong
  • Mi-Hye Mun
  • Min-Hye Kim
  • Jeong Zoo Lee
  • Sun-Hee LeemEmail author
Research Article



BORIS/CTCFL, a paralog of CTCF and member of the cancer-testicular antigen family, is abnormally activated in multiple cancers.


We investigated the relationship between polymorphic variants of the BORIS minisatellite 2 (BORIS-MS2), located within the 5′ upstream promoter region of BORIS, and bladder cancer.


We used case-control study with 516 controls and 113 bladder cancer patients. To evaluate whether minisatellite variants play a role in BORIS expression, we examined the transcript levels of a reporter gene linked to these minisatellites in cell lines. We also examined BORIS expression in cancerous and non-cancerous bladder tissue.


A statistically significant association was identified between the short rare allele (13-repeat) and bladder cancer incidence (odds ratio (OR) 2.97, 95% confidence interval (CI) [1.14, 7.74]; P = 0.020). In particular, short rare alleles in the younger group (aged < 65) were associated with statistically significant increase in bladder cancer risk (OR 5.38, CI [1.32, 21.87]; P = 0.01). The BORIS-MS2 region acted as a negative regulator, and the expression level of the luciferase reporter in bladder cancer cells was less effectively inhibited than in normal cells. Furthermore, the expression of BORIS mRNA significantly differed (P < 0.05) between normal and cancerous muscle-invasive bladder cancer tissues, and relationship to clinical parameters was observed.


The short rare allele of BORIS-MS2 could be used to identify bladder cancer risk. BORIS expression levels have been shown to increase with the progression of bladder cancer, could be used as a biomarker for its progression.


CTCFL/BORIS Bladder cancer Minisatellite polymorphisms Case-control study 



We gratefully acknowledge patients and their caregivers for their willing participation in this project and for consenting to the use of information obtained from the study.


This work was supported by Alvogen (1). We declare no role of the funding body in the design of the study, the collection, analysis and interpretation of data, nor in writing the manuscript.

Compliance with ethical standards

Conflict of interest

Tae Nam Kim, Won-Tae Kim, Mi-So Jeong, Mi-Hye Mun, Min-Hye Kim, Jeong Zoo Lee and Sun-Hee Leem declare that they have no competing interest.

Ethical approval

This study was conducted with informed written consent from participants and after approval by the bioethics committees of Pusan National University Hospital (#IRB-H-1706-002-007; #IRB-H-1804-002-065 Busan, Korea) and Chungbuk National University Hospital (#IRB-2006-1; Cheongju, Korea).


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Copyright information

© The Genetics Society of Korea and Springer Nature B.V. 2018

Authors and Affiliations

  1. 1.Department of Urology, Medical Research InstitutePusan National University HospitalBusanSouth Korea
  2. 2.Department of Biological SciencesDong-A UniversityBusanSouth Korea

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