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XRCC1 polymorphisms and head and neck cancer
Andrew F Olshan1, Mary A Watson, Mark C Weissler
1Department of Epidemiology, CB#7435, School of Public Health, University of North Carolina, Chapel Hill, NC 27599-7435, USA. andy_olshan@unc.edu
Cancer Letters
|February 28, 2002
Summary
Genetic variations in the XRCC1 gene may influence squamous cell carcinoma of the head and neck (SCCHN) risk. The Arg399Gln polymorphism, particularly the Gln/Gln genotype, showed a significant protective effect against SCCHN in both white and black populations.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Inter-individual differences in DNA repair capacity are linked to various diseases, including squamous cell carcinoma of the head and neck (SCCHN).
- The XRCC1 gene plays a crucial role in DNA strand break and base excision repair pathways.
- Previous studies suggested associations between SCCHN and specific XRCC1 gene polymorphisms.
Purpose of the Study:
- To investigate the association between two specific XRCC1 gene polymorphisms (exon 6, 194Arg/Arg and exon 10, 399 Gln/Gln) and the risk of SCCHN.
- To analyze potential interactions between these polymorphisms and tobacco use in SCCHN development.
Main Methods:
- A case-control study design was employed.
- Analysis focused on two XRCC1 polymorphisms: Arg194Trp and Arg399Gln.
- Statistical analysis included calculating odds ratios (OR) and 95% confidence intervals (CI) for different genotypes and ethnicities.
Main Results:
- The Arg194Trp polymorphism showed a weak, non-significant elevation in risk among white subjects (OR=1.3).
- The Arg399Gln polymorphism was associated with a decreased risk (OR=0.6).
- A markedly decreased odds ratio for SCCHN was observed for the Gln/Gln genotype in both white (OR=0.1) and black (OR=0.01) subjects.
- A potential interaction between these XRCC1 polymorphisms and tobacco use was suggested.
Conclusions:
- The XRCC1 Arg399Gln polymorphism, especially the Gln/Gln genotype, appears to have a protective effect against SCCHN.
- The Arg194Trp polymorphism's role in SCCHN risk requires further investigation.
- Additional research, including functional and epidemiological studies, is necessary to fully elucidate the significance of XRCC1 polymorphisms in SCCHN.