ArticlePloS one2012
Genetic variants in telomere-maintenance genes and bladder cancer risk.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Quantitative assessment of the association between glutathione S-transferase P1 Ile105Val polymorphism and bladder cancer risk.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2013Pooled it
- Ferroptosis resistance-related TEP1 as a novel prognostic biomarker involved in immune cell infiltration and tumour progression in glioblastoma.Cancer cell international · 2025Article
- The Influence ofJournal of clinical medicine · 2023Article
- Molecular Markers of Telomerase Complex for Patients with Pituitary Adenoma.Brain sciences · 2022Article
- Implications of TERT promoter mutations and telomerase activity in urothelial carcinogenesis.Nature reviews. Urology · 2018Review
- Telomerase and drug resistance in cancer.Cellular and molecular life sciences : CMLS · 2017Review
- Genetic variants in telomere-maintenance genes are associated with ovarian cancer risk and outcome.Journal of cellular and molecular medicine · 2017Article
- Two genetic variants in telomerase-associated protein 1 are associated with stomach cancer risk.Journal of human genetics · 2016Article
- Genetic variants in the TEP1 gene are associated with prostate cancer risk and recurrence.Prostate cancer and prostatic diseases · 2015Article
- Genetic Variants in the Insulin-like Growth Factor Pathway and Colorectal Cancer Risk in the Netherlands Cohort Study.Scientific reports · 2015Article
- Telomere length and common disease: study design and analytical challenges.Human genetics · 2015Review
- A screening-testing approach for detecting gene-environment interactions using sequential penalized and unpenalized multiple logistic regression.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2015Article
- PinX1 suppresses bladder urothelial carcinoma cell proliferation via the inhibition of telomerase activity and p16/cyclin D1 pathway.Molecular cancer · 2013Article
- Opportunities and challenges for selected emerging technologies in cancer epidemiology: mitochondrial, epigenomic, metabolomic, and telomerase profiling.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2013Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Telomeres are critical in maintaining genomic stability. Genetic variants in telomere pathway genes may affect telomere and telomerase function, and subsequently cancer risk. We evaluated 126 SNPs from 10 genes related to telomere regulation in relation to bladder cancer risk. Five SNPs, 4 from TEP1 gene and 1 from PINX1 gene, were found to be highly significant (P<0.01). Out of these, the most significant association was found in rs2228041 of TEP1 (OR 1.66, 95% CI 1.19-2.31) while rs1469557 of PINX1 had a protective effect (OR 0.75, 95% CI 0.61-0.93). Haplotype analysis showed that a TEP1 haplotype consisting of the variant alleles of 7 SNPs exhibited a 2.28 fold increased risk (95% CI 1.13-4.60). We then performed cumulative analysis of multiple risk variants, as well as Classification and Regression Tree (CART) to look for gene-gene interactions. In cumulative effect analysis, the group with 4-5 risk variants had an OR of 2.57 (95% CI = 1.62-4.09) versus the reference group with 0 risk variants. The CART analysis categorized individuals into five subgroups with different bladder cancer risk profiles based on their distinct genotype background. To our knowledge, this is one of the largest, most comprehensive studies on bladder cancer risk concerning telomere-regulating pathway gene SNPs and our results support that genetic variations of telomere maintenance modulate bladder cancer risk individually and jointly.
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