Mucha Bartosz, Przybylowska-Sygut Karolina, Dziki Adam Janusz, Dziki Lukasz, Sygut Andrzej, Majsterek Ireneusz
Ireneusz Majsterek PhD, Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, e-mail:
Pol J Pathol. 2013 Oct;64(3):185-90. doi: 10.5114/pjp.2013.38137.
DNA double strand breaks (DSBs) are the most dangerous lesions which can lead to carcinogenesis. Homologous recombination (HR) is an important pathway responsible for maintaining genome integrity through repair of DSBs. Single nucleotide polymorphism (SNP) is an essential source of genetic variation whose presence in genes involved in HR may have a crucial role in modulation of DNA repair capacity. This case-control study was designed to evaluate the influence of XRCC3 gene Thr241Met polymorphism on CRC risk and progression among Polish population. Genotyping was performed by RFLP-PCR (restriction length fragment polymorphism). The subject of our study was consist of 194 patients with CRC and 204 cancer-free individuals who were age and sex-matched as a control group. Obtained genotype distributions in controls as well as patients fit to the Hardy-Weinberg expectations. Odd ratio analysis indicates diminished risk for heterozygous model and Met allele. Comparison of patients with noninvasive and advanced stage of CRC did not imply any statistical significance. Our results suggest that Thr241Met XRCC3 gene polymorphism might be regarded as CRC potential molecular marker. Nevertheless, that hypothesis needs to be confirmed by subsequent studies.
DNA双链断裂（DSB）是最危险的损伤，可导致癌症发生。同源重组（HR）是通过修复DSB来维持基因组完整性的重要途径。单核苷酸多态性（SNP）是遗传变异的重要来源，其在参与HR的基因中的存在可能在调节DNA修复能力方面起关键作用。本病例对照研究旨在评估XRCC3基因Thr241Met多态性对波兰人群结直肠癌风险和进展的影响。通过限制性片段长度多态性聚合酶链反应（RFLP-PCR）进行基因分型。我们的研究对象包括194例结直肠癌患者和204例年龄和性别匹配的无癌个体作为对照组。在对照组和患者中获得的基因型分布符合哈迪-温伯格预期。比值比分析表明杂合模型和Met等位基因的风险降低。对结直肠癌非侵袭性和晚期患者的比较未显示任何统计学意义。我们的结果表明，Thr241Met XRCC3基因多态性可能被视为结直肠癌的潜在分子标志物。然而，这一假设需要后续研究予以证实。
