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Cited by 98Genetic Associations and EpidemiologyBladder and Urothelial Cancer TreatmentsEpigenetics and DNA Methylation

Bladder cancer SNP panel predicts susceptibility and survival

Open access
Andrew, Angeline S., Gui, Jiang, Sanderson, Arthur C., Mason, Rebecca A., Morlock, Elaine V., Schned, Alan R., Kelsey, Karl T., Marsit, Carmen J. +2 more·2009·Human Genetics
DOI 10.1007/s00439-009-0645-6PMC PMC2763504
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Abstract

Bladder cancer is the fourth most common malignancy in men and the eighth most common in women in western countries. Single nucleotide polymorphisms (SNPs) in genes that regulate telomere maintenance, mitosis, inflammation, and apoptosis have not been assessed extensively for this disease. Using a population-based study with 832 bladder cancer cases and 1,191 controls, we assessed genetic variation in relation to cancer susceptibility or survival. Findings included an increased risk associated with variants in the methyl-metabolism gene, MTHFD2 (OR 1.7 95% CI 1.3-2.3), the telomerase TEP1 (OR 1.8 95% CI 1.2-2.6) and decreased risk associated with the inflammatory response gene variant IL8RB (OR 0.6 95% CI 0.5-0.9) compared to wild-type. Shorter survival was associated with apoptotic gene variants, including CASP9 (HR 1.8 95% CI 1.1-3.0). Variants in the detoxification gene EPHX1 experienced longer survival (HR 0.4 (95% CI 0.2-0.8). These genes can now be assessed in multiple study populations to identify and validate SNPs appropriate for clinical use.

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  • Common variations of SLC23A2 are linked to increased risk of bladder cancer.

    “Common variations of SLC23A2 were linked to increased or decreased risk of gastric cancer depending on a discrete genotype [85,90], decreased risk of colorectal adenocarcinoma [91], HPV16-positive head and neck cancer [92], increased risk of bladder cancer [93], non-Hodgkin lymphoma [87], chronic lymphocytic leukemia [94], preterm delivery [84], open-angle glaucoma [95], and acute coronary syndrom”

    From Vitamin C-Sources, Physiological Role, Kinetics, Deficiency, Use, Toxicity, and Determination (2021) · cites this paper as [93]

    The Results (Risk models; page unavailable) link an SLC23A2 variant to increased bladder cancer risk as part of a multi-gene high-risk combination. They also state that SLC23A2_31 did not show a significant individual association after adjustment, so the source does not support an unqualified link between SLC23A2 variation alone and increased risk. (LLM, conf=0.88)

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Authors
Andrew, A. S., Gui, J., Sanderson, A. C., Mason, R. A., Morlock, E. V., Schned, A. R., Kelsey, K. T., Marsit, C. J., Moore, J. H., & Karagas, M. R.
Affiliations
  • Dartmouth College (US)
  • Rensselaer Polytechnic Institute (US)
  • Brown University (US)
Corresponding author
Andrew, Angeline S.
ORCID
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2009-03-01
Volume
125
Issue
5-6
Pages
527-539
ISSN
  • 0018-7348 (ISSN-L)
  • 0340-6717
  • 1432-1203
DOI
10.1007/s00439-009-0645-6
PMC
PMC2763504
OpenAlex
W2079861715
Cited by
98
References
70
Citations by year
2026: 3 · 2025: 1 · 2024: 4 · 2023: 5 · 2022: 4 · 2021: 7 · 2020: 6 · 2019: 4 · 2018: 1 · 2017: 5 · 2016: 9 · 2015: 3 · 2014: 8 · 2013: 9 · 2012: 14
FWCI
5.65
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • New Hampshire Department of Transportation
  • National Institutes of Health (5p20rr018787-07)
  • National Cancer Institute (K07CA102327, CA82354, CA121382, R03CA121382, R01CA082354, CA102327, CA 57494, R01CA057494, CA099500, R03CA099500, CA 078609, R01CA078609, P30CA023108)
  • National Institute of Environmental Health Sciences (P 42-ES05947, ES007373, P42ES007373, P42ES005947, P30ES000002, ES 00002)
  • U.S. National Library of Medicine (LM-009012, R01LM009012)
  • National Center for Research Resources (RR 018787, P20-RR018787)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Surgery › Bladder and Urothelial Cancer Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Keywords
bladder cancer, single nucleotide polymorphisms, genetic susceptibility, cancer survival, MTHFD2, telomerase, TEP1, inflammation, caspase-9, apoptosis, EPHX1, detoxification, telomere maintenance
MeSH terms
Adult, Aged, Alleles, Urinary Bladder Neoplasms, DNA, Neoplasm, Female, Genotype, Humans, Male, Middle Aged, Models, Genetic, Risk Factors, Case-Control Studies, Molecular Epidemiology, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide

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