Patil Madhavi Narayan, Bhandurge Parixit Jayprakash, Kadam Sandeep Sambhajirao, Datkhile Kailas Dhondibhau
Scientist grade-I, Dr. Prabhakar Kore, Basic Science Research Center, KLE Academy of Higher Education and Research (KAHER), Taluka- Belagavi, Dist-Belagavi, Pin-590010, Karnataka, India.
Department of Pharmaceutical Chemistry, KLE College of Pharmacy, KLE Academy of Higher Education and Research (KAHER), Taluka- Belagavi, Dist-Belagavi, Pin-590010, Karnataka, India.
Asian Pac J Cancer Prev. 2025 May 1;26(5):1571-1579. doi: 10.31557/APJCP.2025.26.5.1571.
A number of X-ray repair cross complementing group (XRCC) genes are found to be involved in the DNA repair by the repair of single strand breaks (SSBs). Variation in these genes may lead to variation in DNA repair capacity, thereby increasing the genetic susceptibility to numerous human cancers. Among the known genetic polymorphisms of the DNA repair genes, there are many functional genetic variants have been identified in the XRCC genes particularly XRCC4, XRCC5, XRCC6 and XRCC7 that shows the positive association with the multiple cancers including cancers of GI tract. Therefore, in the present study, polymorphic variants of XRCC4, XRCC5, XRCC6 and XRCC7 were chosen to be studied in association with gastrointestinal cancer susceptibility in the south western Maharashtrian population. Methods: A total of 200 histologically confirmed cases of gastrointestinal cancer (GI) and 200 hospital-based controls were included in the study. The genotyping for XRCC4, XRCC5, XRCC6 and XRCC7 genes was carried out by polymerase chain reaction-restriction fragment length polymorphism.
We found that tobacco consumption in any form either smoking or chewing (OR = 4.03; 95% CI: 2.65-6.11) and alcohol drinking habit (OR = 4.45; CI: 2.15-9.22) is strongly associated with gastrointestinal cancer risk. Similarly, data analysis of cases and control group showed that XRCC4.2 G1394T is significantly associated with GI cancer risk. Our studies also revealed that fewer repeats (1R/1R, 0R/0R) of XRCC5 in the promoter region were found to be associated with the increased risk of GI cancer. In case of XRCC7 6721G>T our findings suggest a strong association with development of GI cancer risk in south-western Maharashtrian population. However, we did not find any association of polymorphic variants of XRCC4.1 cd247, XRCC4.5 Intron-7 and XRCC6 61C>G with GI cancer risk in the study population. However, multicentric studies with larger sample size are needed to substantiate the findings.
多项研究发现，一些X射线修复交叉互补基因（XRCC）参与单链断裂（SSB）修复从而涉及DNA修复过程。这些基因的变异可能导致DNA修复能力的变化，进而增加对多种人类癌症的遗传易感性。在已知的DNA修复基因遗传多态性中，已在XRCC基因尤其是XRCC4、XRCC5、XRCC6和XRCC7中鉴定出许多功能性遗传变异，这些变异与包括胃肠道癌症在内的多种癌症呈正相关。因此，在本研究中，选择研究XRCC4、XRCC5、XRCC6和XRCC7的多态性变异与马哈拉施特拉邦西南部人群胃肠道癌症易感性的关系。方法：本研究共纳入200例经组织学确诊的胃肠道癌（GI）病例和200例医院对照。采用聚合酶链反应-限制性片段长度多态性方法对XRCC4、XRCC5、XRCC6和XRCC7基因进行基因分型。
我们发现，任何形式的烟草消费（吸烟或咀嚼）（OR = 4.03；95% CI：2.65 - 6.11）和饮酒习惯（OR = 4.45；CI：2.15 - 9.22）与胃肠道癌症风险密切相关。同样，病例组和对照组的数据分析表明，XRCC4.2 G1394T与GI癌症风险显著相关。我们的研究还发现，启动子区域中XRCC5的重复次数较少（1R/1R，0R/0R）与GI癌症风险增加有关。对于XRCC7 6721G>T，我们的研究结果表明在马哈拉施特拉邦西南部人群中与GI癌症风险的发生密切相关。然而,在研究人群中，我们未发现XRCC4.1 cd247、XRCC4.5内含子-7和XRCC6 61C>G的多态性变异与GI癌症风险存在关联。不过，需要开展更大样本量的多中心研究来证实这些发现。
