RGD Reference Report - Bladder cancer SNP panel predicts susceptibility and survival. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Bladder cancer SNP panel predicts susceptibility and survival.

Authors: Andrew, AS  Gui, J  Sanderson, AC  Mason, RA  Morlock, EV  Schned, AR  Kelsey, KT  Marsit, CJ  Moore, JH  Karagas, MR 
Citation: Andrew AS, etal., Hum Genet. 2009 Jun;125(5-6):527-39. Epub 2009 Mar 1.
RGD ID: 2315930
Pubmed: PMID:19252927   (View Abstract at PubMed)
PMCID: PMC2763504   (View Article at PubMed Central)
DOI: DOI:10.1007/s00439-009-0645-6   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
urinary bladder cancer disease_progressionIAGP 2315930DNA:SNP:exon:p.Q221R (rs1052576) (human)RGD 
urinary bladder cancer  IAGP 2315930DNA:SNPRGD 
urinary bladder cancer disease_progressionISOCASP9 (Homo sapiens)2315930; 2315930DNA:SNP:exon:p.Q221R (rs1052576) (human)RGD 
urinary bladder cancer  ISOCXCR2 (Homo sapiens)2315930; 2315930DNA:SNPRGD 
urinary bladder cancer disease_progressionIAGP 2315930DNA:SNPsRGD 
urinary bladder cancer disease_progressionISOEPHX1 (Homo sapiens)2315930; 2315930DNA:SNPsRGD 

Objects Annotated

Genes (Rattus norvegicus)
Casp9  (caspase 9)
Cxcr2  (C-X-C motif chemokine receptor 2)
Ephx1  (epoxide hydrolase 1)

Genes (Mus musculus)
Casp9  (caspase 9)
Cxcr2  (C-X-C motif chemokine receptor 2)
Ephx1  (epoxide hydrolase 1, microsomal)

Genes (Homo sapiens)
CASP9  (caspase 9)
CXCR2  (C-X-C motif chemokine receptor 2)
EPHX1  (epoxide hydrolase 1)


Additional Information