Mucha Bartosz, Przybyłowska-Sygut Karolina, Dziki Lukasz, Dziki Adam, Sygut Andrzej, Majsterek Ireneusz
Department of Clinical Chemistry and Biochemistry, Medical University in Łódź
Pol Przegl Chir. 2012 Jul;84(7):358-62. doi: 10.2478/v10035-012-0060-x.
One of the major causes of carcinogenesis is loss of genome stability. RAD51 in process of homologous recombination (HR) played crucial role in maintenance integrity of genome through initiate of DNA double strand breaks repair. Presence of single nucleotide polymorphism (SNP) in RAD51 gene could change the capacity of DNA repair and altered the response to damaging agents. Research on potential impact of genetic variability on development and progression CRC may contribute to setting new genetic markers or/and determined individual susceptibility to CRC.The aim of the study. This study was designed to evaluate the effect of 135 G/C (rs1801320) RAD51 polymorphism located in the 5' untraslated region on the risk and progression of CRC.Material and methods. The subjects consisted of histologically confirmed colorectal cancer (n = 200) and controls (n = 200) with lack of previous history of cancer. The distribution of genotypes was determined by restriction fragment length polymorphism PCR (RFLP - PCR). Statistical analysis was based on multivariate regression model.Results and conclusion. Our study reveal no significance association of 135 G/C RAD51 polymorphism with occurrence and progression of colorectal cancer.
致癌作用的主要原因之一是基因组稳定性的丧失。在同源重组（HR）过程中的RAD51通过启动DNA双链断裂修复在维持基因组完整性方面发挥着关键作用。RAD51基因中存在单核苷酸多态性（SNP）可能会改变DNA修复能力，并改变对损伤因子的反应。研究遗传变异性对结直肠癌发生和进展的潜在影响可能有助于设定新的遗传标记或/和确定个体对结直肠癌的易感性。研究目的。本研究旨在评估位于5'非翻译区的135G/C（rs1801320）RAD51多态性对结直肠癌风险和进展的影响。材料和方法。研究对象包括经组织学确诊的结直肠癌患者（n = 200）和无癌症病史的对照组（n = 200）。通过限制性片段长度多态性PCR（RFLP - PCR）确定基因型分布。统计分析基于多变量回归模型。结果与结论。我们的研究表明，135G/C RAD51多态性与结直肠癌的发生和进展无显著关联。
