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KMID : 0381120190410020249
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Genes and Genomics
2019 Volume.41 No. 2 p.249 ~ p.256
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Short rare minisatellite variant of BORIS-MS2 is related to bladder cancer susceptibility
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Kim Tae-Nam
Kim Won-Tae
Jeong Mi-So
Mun Mi-Hye
Kim Min-Hye
Lee Jeong-Zoo
Leem Sun-Hee
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Abstract
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Background: BORIS/CTCFL, a paralog of CTCF and member of the cancer-testicular antigen family, is abnormally activated in multiple cancers.
Objective: 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.
Methods: 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.
Results: 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?
Conclusions: 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.
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KEYWORD
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CTCFL/BORIS, Bladder cancer, Minisatellite polymorphisms, Case-control study
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