Impact of XPC Variants on Bladder Cancer Risk
Author Information
Author(s): Qiao Boling, Scott Gina B, Elliott Faye, Vaslin Laurence, Bentley Johanne, Hall Janet, Bishop D Timothy, Knowles Margaret A, Kiltie Anne E
Primary Institution: Leeds Institute of Molecular Medicine
Hypothesis
Do the two 3'UTR variants of XPC affect mRNA stability and protein expression, thereby influencing bladder cancer risk?
Conclusion
The two 3'UTR variants may be responsible for the association between c.1496C > T and bladder cancer risk by modulating protein expression.
Supporting Evidence
- The two 3'UTR variants were associated with reduced protein and mRNA expression in plasmid-based assays.
- A near-significant reduction in XPC protein expression was detected in lymphoblastoid cell lines homozygous for these alleles.
- No significant differences in mRNA stability were found in lymphoblastoid cell lines or lymphocytes heterozygous for these alleles.
Takeaway
This study looked at how certain genetic changes in a gene related to bladder cancer might affect how the gene works, which could help explain why some people get bladder cancer.
Methodology
In vitro mRNA stability assays and protein expression measurements were conducted using plasmid-based assays and lymphocyte samples from bladder and breast cancer patients.
Potential Biases
Potential bias due to the small sample size and the inability to enrich the population for known homozygous individuals.
Limitations
The study was limited by the small sample size of lymphoblastoid cell lines and the inability to contact patients for further genotyping.
Participant Demographics
Participants included 49 bladder cancer patients with a previous history of the disease.
Statistical Information
P-Value
0.058
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website