Nissar Saniya, Sameer Aga Syed, Rasool Roohi, Chowdri Nissar A, Rashid Fouzia
Department of Biochemistry, University of Kashmir, Hazratbal, India E-mail :
Asian Pac J Cancer Prev. 2015;16(15):6385-90. doi: 10.7314/apjcp.2015.16.15.6385.
Genetic polymorphisms in DNA repair genes may influence individual variation in DNA repair capacity, which may be associated with risk of developing cancer. For colorectal cancer the importance of mutations in mismatch repair genes has been extensively documented.
In this study we focused on the Arg194Trp polymorphism of the DNA repair gene XRCC1, involved in base excision repair (BER) and its role in colorectal cancer in Kashmiri population. A case-control study was conducted including 100 cases of colorectal cancer, and 100 hospital-based age- and sex-matched healthy controls to examine the role of XRCC1 genetic polymorphisms in the context of colorectal cancer risk for the Kashmiri population.
Genotype analysis of XRCC1 Arg194Trp was conducted with a restriction fragment length polymorphism (RFLP) method. The overall association between the XRCC1 polymorphism and the CRC cases was found to be significant (p<0.05) with both the heterozygous genotype (Arg/Trp) as well as homozygous variant genotype (Trp/Trp) being moderately associated with the elevated risk for CRC [OR=2.01 (95% CI=1.03-3.94) and OR=5.2(95% CI=1.42-19.5)] respectively.
Our results suggest an increased risk for CRC in individuals with XRCC1 Arg194Trp polymorphism suggesting BER repair pathway modulates the risk of developing colorectal cancer in the Kashmiri population.
DNA修复基因中的遗传多态性可能影响DNA修复能力的个体差异，这可能与患癌风险相关。对于结直肠癌，错配修复基因中突变的重要性已有大量文献记载。
在本研究中，我们聚焦于参与碱基切除修复（BER）的DNA修复基因XRCC1的Arg194Trp多态性及其在克什米尔人群结直肠癌中的作用。进行了一项病例对照研究，包括100例结直肠癌患者和100例基于医院的年龄及性别匹配的健康对照，以研究XRCC1基因多态性在克什米尔人群结直肠癌风险中的作用。
采用限制性片段长度多态性（RFLP）方法对XRCC1 Arg194Trp进行基因型分析。发现XRCC1多态性与结直肠癌病例之间的总体关联具有统计学意义（p<0.05），杂合基因型（Arg/Trp）以及纯合变异基因型（Trp/Trp）均与结直肠癌风险升高呈中度相关[比值比分别为2.01（95%可信区间=1.03 - 3.94）和5.2（95%可信区间=1.42 - 19.5）]。
我们的结果表明，携带XRCC1 Arg194Trp多态性的个体患结直肠癌的风险增加，提示碱基切除修复途径调节克什米尔人群患结直肠癌的风险。
