Relevance of HOTAIR rs920778 and rs12826786 Genetic Variants in Bladder Cancer Risk and Survival
by
, , , and
Eduarda P. Martins
1,2,
Joana Vieira de Castro
1,2,
Rita Fontes
1,2,
Sara Monteiro-Reis
3,4,
Rui Henrique
3,5,6
,
Carmen Jerónimo
3,5
and
Bruno M. Costa
1,2,* 1
Life and Health Sciences Research Institute (ICVS), School of Medicine, Campus de Gualtar, University of Minho, 4710-057 Braga, Portugal
2
ICVS/3B’s-PT Government Associate Laboratory, 4710-057/4805-017 Braga/Guimarães, Portugal
3
Cancer Biology & Epigenetics Group, Research Center of IPO Porto (CI-IPOP), CI-IPOP @RISE (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto), Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC), 4200-072 Porto, Portugal
4
Institute of Science and Innovation in Mechanical and Industrial Engineering (INEGI), University of Porto, 4200-465 Porto, Portugal
5
Department of Pathology & Molecular Immunology, ICBAS-School of Medicine & Biomedical Sciences, University of Porto, 4050-313 Porto, Portugal
6
Department of Pathology, Portuguese Oncology Institute of Porto (IPO Porto), 4200-072 Porto, Portugal
*
Author to whom correspondence should be addressed.
Cancers 2024, 16(2), 434; https://doi.org/10.3390/cancers16020434
Submission received: 19 December 2023
/
Revised: 12 January 2024
/
Accepted: 16 January 2024
/
Published: 19 January 2024
(This article belongs to the Special Issue Advances and Perspectives in Diagnosis and Treatment Strategies for Bladder Cancer)
Simple Summary
Bladder cancer is the 10th most diagnosed cancer worldwide. The long non-coding RNA HOX transcript antisense intergenic RNA (HOTAIR) has been shown to play pivotal oncogenic roles in this type of cancer. The aim of this study was to determine the relevance of the HOTAIR rs920778 and rs12826786 genetic variants in bladder cancer susceptibility and prognosis. Our retrospective analyses using 106 bladder cancer patients and 199 cancer-free controls demonstrated that, despite not presenting an association with bladder cancer risk, HOTAIR rs920778 TT and rs12826786 CC genotypes are associated with a better prognosis for bladder cancer patients.
Abstract
The long non-coding RNA HOX transcript antisense intergenic RNA (HOTAIR) is associated with oncogenic features in bladder cancer and is predictive of poor clinical outcomes in patients diagnosed with this disease. In this study, we evaluated the impact of the HOTAIR single nucleotide polymorphisms rs920778 and rs12826786 on bladder cancer risk and survival. This case-control study included 106 bladder cancer patients and 199 cancer-free controls. Polymorphisms were evaluated through PCR-restriction fragment length polymorphism. The odds ratio and 95% confidence intervals were tested using univariable and multivariable logistic regressions. The effects on patient survival were evaluated using the log-rank test and Cox regression models. Our data showed that the HOTAIR rs920778 and rs12826786 genetic variants are not associated with the risk of developing bladder cancer. Nevertheless, survival analyses suggested that the HOTAIR rs920778 TT genotype and rs12826786 CC genotype are associated with increased survival in male bladder cancer patients and in patients, both male and female, who have primary tumors with a pathological stage of pT2. Together, these results suggest that, despite not being associated with bladder cancer risk, HOTAIR rs920778 and rs12826786 polymorphisms might represent new prognostic factors in this type of cancer. This is particularly important as these polymorphisms might be easily evaluated in bladder cancer patients in a minimally invasive manner to better predict their clinical outcomes.
Keywords:
HOTAIR; rs920778; rs12826786; SNP; bladder cancer
