Lau Tze-Pheng, Lian Lay-Hoong, Cheah Phaik-Leng, Looi Lai-Meng, Roslani April C, Goh Khean-Lee, Lee Ping-Chin, Chua Kek-Heng
Departments of aPathology bBiomedical Science cSurgery dMedicine, Division of Gastroenterology and Hepatology, Faculty of Medicine, University of Malaya, Kuala Lumpur eCentre for Research & Innovation, Faculty of Science and Natural Resources, Universiti Malaysia Sabah, Jalan UMS, Kota Kinabalu, Sabah, Malaysia.
Eur J Cancer Prev. 2017 Nov;26(6):506-510. doi: 10.1097/CEJ.0000000000000336.
X-ray repair cross-complementing group 1 (XRCC1) is one of the key components in the base excision repair pathway that repairs erroneous DNA lesions and removes nonbulky base adducts for the maintenance of genome integrity. Studies have revealed that differences in individual DNA repair capacity can impact the interindividual variation in cancer susceptibility, tumour aggressiveness and treatment response. The relationship between XRCC1 and sporadic colorectal cancer (CRC) susceptibility, which is hitherto inconclusive, has been explored in many association studies of different populations. In view of the conflicting findings generated, we aimed to investigate the association between XRCC1 and genetic predisposition to CRC among Malaysians. The present case-control association study was conducted on 130 CRC patients and 212 age-matched healthy controls. The genotyping of XRCC1 Arg194Trp, Arg280His and Arg399Gln single nucleotide polymorphisms was performed with allele-specific real-time PCR approach. This was followed by basic statistical analysis on the single nucleotide polymorphisms and haplotype data obtained. No significant difference in the allele and genotype frequencies was observed between CRC patients and healthy controls (P>0.05). There was also no association observed between XRCC1 haplotypes and CRC (P>0.05). In conclusion, a positive association between XRCC1 gene polymorphisms and CRC risk was not established in our Malaysian population.
X射线修复交叉互补基因1（XRCC1）是碱基切除修复途径中的关键成分之一，该途径可修复错误的DNA损伤并去除非大块碱基加合物以维持基因组完整性。研究表明，个体DNA修复能力的差异会影响癌症易感性、肿瘤侵袭性和治疗反应的个体间差异。XRCC1与散发性结直肠癌（CRC）易感性之间的关系迄今尚无定论，许多针对不同人群的关联研究都对其进行了探索。鉴于已产生的相互矛盾的研究结果，我们旨在调查马来西亚人群中XRCC1与CRC遗传易感性之间的关联。本病例对照关联研究对130例CRC患者和212名年龄匹配的健康对照进行。采用等位基因特异性实时PCR方法对XRCC1基因的Arg194Trp、Arg280His和Arg399Gln单核苷酸多态性进行基因分型。随后对获得的单核苷酸多态性和单倍型数据进行基本统计分析。CRC患者与健康对照之间的等位基因和基因型频率未观察到显著差异（P>0.05）。XRCC1单倍型与CRC之间也未观察到关联（P>0.05）。总之，在我们的马来西亚人群中未发现XRCC1基因多态性与CRC风险之间存在正相关。
