Karam Rehab A, Al Jiffry Bilal O, Al Saeed Mohamed, Abd El Rahman Tamer M, Hatem Mohamed, Amer Mona G
Department of Biochemistry, Faculty of Medicine, Taif University, Al Taif, Saudi Arabia; Departments of Biochemistry, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Department of Surgery, Faculty of Medicine, Taif University, Al Taif, Saudi Arabia.
Arab J Gastroenterol. 2016 Sep;17(3):117-120. doi: 10.1016/j.ajg.2016.08.005. Epub 2016 Sep 27.
Polymorphisms in the DNA repair genes may influence individual capacity to repair DNA damage, which may be associated with increased genetic instability and carcinogenesis. Our aim was to evaluate the relation of genetic polymorphisms in 2 DNA repair genes, XPD Lys751Gln and XRCC1 (A399G), with colorectal cancer (CRC) susceptibility. We further investigated the potential effect of these DNA repair variants on clinicopathological parameters of CRC patients.
Both XPD and XRCC1 polymorphisms were characterised in one hundred CRC patients and one hundred healthy controls who had no history of any malignancy by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method and PCR with confronting two-pair primers (PCR-CTPP), using DNA from peripheral blood in a case control study.
Our results revealed that the frequencies of GG genotype of XRCC1 399 polymorphism were significantly higher in the CRC patients than in the normal individuals (p⩽0.03), and did not observe any association between the XPD Lys751Gln polymorphism and CRC risk. We found association between both XRCC1 A399G polymorphisms and histological grading of disease.
Our results suggested that, XRCC1 gene is an important candidate gene for susceptibility to colorectal carcinoma.
DNA修复基因中的多态性可能影响个体修复DNA损伤的能力，这可能与遗传不稳定性增加和致癌作用相关。我们的目的是评估两个DNA修复基因XPD Lys751Gln和XRCC1（A399G）中的基因多态性与结直肠癌（CRC）易感性的关系。我们进一步研究了这些DNA修复变异对CRC患者临床病理参数的潜在影响。
在一项病例对照研究中，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法和双引物对PCR（PCR-CTPP），利用外周血DNA对100例CRC患者和100例无任何恶性肿瘤病史的健康对照者的XPD和XRCC1多态性进行了分析。
我们的结果显示，CRC患者中XRCC1 399多态性的GG基因型频率显著高于正常个体（p⩽0.03），并且未观察到XPD Lys751Gln多态性与CRC风险之间存在任何关联。我们发现XRCC1 A399G多态性与疾病的组织学分级均有关联。
我们的结果表明，XRCC1基因是结直肠癌易感性的一个重要候选基因。
