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Updated: Mar 20, 2026

Cell-Free DNA Integrity Analysis in Urine Samples
Published on: January 5, 2017
Polymorphisms in the XPC gene affect urinary bladder cancer risk: a case-control study, meta-analyses and trial
Monica Sankhwar1, Satya Narayan Sankhwar1, Sandeep Kumar Bansal2
1Department of Urology, King George Medical University, Lucknow, India.
Genetic variations in the Xeroderma Pigmentosum, Complementation Group C (XPC) gene influence cancer risk. The XPC Ala499Val polymorphism is linked to an increased risk of urinary bladder cancer, especially in smokers.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- DNA repair mechanisms are crucial for preventing cancer.
- Polymorphisms in DNA repair genes, like Xeroderma Pigmentosum, Complementation Group C (XPC), may alter cancer susceptibility.
- Urinary bladder cancer risk is influenced by genetic and environmental factors.
Purpose of the Study:
- To investigate the association between XPC gene polymorphisms (Ala499Val and Lys939Gln) and urinary bladder cancer risk.
- To evaluate the modifying effect of environmental factors, such as smoking and tobacco chewing, on this association.
- To confirm findings through meta-analyses.
Main Methods:
- Genotyping of XPC Ala499Val and Lys939Gln polymorphisms in 234 urinary bladder cancer cases and 258 controls.
- Statistical analysis including odds ratios (OR) and confidence intervals (CI).
- Meta-analyses of published studies for Ala499Val (7 studies) and Lys939Gln (11 studies).
Main Results:
- The XPC Ala499Val polymorphism showed a significant association with increased urinary bladder cancer risk (OR=1.78, p=0.005).
- This association was particularly strong in individuals who smoked (OR=2.23) or chewed tobacco (OR=2.40).
- The XPC Lys939Gln polymorphism was not significantly associated with urinary bladder cancer risk (OR=0.97, p=0.89).
- Meta-analyses confirmed the association for Ala499Val (OR=1.54, p=0.001) but not for Lys939Gln (OR=1.13, p=0.171).
Conclusions:
- The XPC Ala499Val polymorphism is a significant risk factor for urinary bladder cancer.
- Smoking and tobacco chewing act as co-risk factors, amplifying the effect of the XPC Ala499Val polymorphism.
- The XPC Lys939Gln polymorphism does not appear to influence urinary bladder cancer risk.
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