Published in:
Open Access
01-12-2009 | Research
Genetic polymorphisms in DNA base excision repair gene XRCC1 and the risk of squamous cell carcinoma of the head and neck
Authors:
Michal Kowalski, Karolina Przybylowska, Pawel Rusin, Jurek Olszewski, Alina Morawiec-Sztandera, Anna Bielecka-Kowalska, Wioletta Pietruszewska, Wojciech Mlynarski, Szemraj Janusz, Ireneusz Majsterek
Published in:
Journal of Experimental & Clinical Cancer Research
|
Issue 1/2009
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Abstract
Background
The genes of base excision repair (BER) pathway have been extensively studied in the association with various human cancers. We performed a case-control study to test the association between two common single nucleotide polymorphisms (SNPs) of XRCC1 gene with human head and neck squamous cell carcinoma (HNSCC).
Methods
The genotype analysis of Arg194Trp and Arg399Gln gene polymorphisms for 92 HNSCC patients and 124 controls of cancer free subjects, in Polish population were performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP) with endonuclease Msp I.
Results
No altered risk has been found individually for these SNPs, however haplotypes analysis showed high association with head and neck cancer. The highest frequency, according to wild-type of Arg194Arg and Arg399Arg genotypes, was identified for Arg194Trp-Arg399Arg haplotype (OR, 2.96; 95% CI, 1.01–8.80).
Conclusion
Finally, we identified the combined Arg194Trp-Arg399Arg genotype of base excision repair gene XRCC1 that was associated with HNSCC and may have an impact on identification of a high-risk cancer population.