Tejasvi Ml Avinash, Maragathavalli Gopal, Kumar Putcha Uday, Ramakrishna M, Raghavan Vijaya, Ck Anulekha Avinash
Department of Oral Medicine and Radiology, Kamineni Institute of Dental sciences, Narketpally, Saveetha University, Chennai, India.
Department of Oral Medicine and Radiology, Saveetha Dental College and Hospitals, Chennai, India.
Glob Med Genet. 2020 Dec;7(4):121-127. doi: 10.1055/s-0041-1722952. Epub 2021 Feb 18.
DNA repair systems play an important role in maintaining the integrity of the human genome. Deficiency in the repair capacity due to either mutations or inherited polymorphisms in DNA repair genes may contribute to variations in the DNA repair capacity and subsequently susceptibility to cancer. This study aimed to investigate the association between Excision repair cross-complementation groups 2 (ERCC2) single nucleotide polymorphisms (SNPs rs1799793 and rs13181) and the response to platinum-based chemotherapy among patients with oral squamous cell carcinoma (OSCC). Polymerase chain reaction-based restriction fragment length polymorphism analysis was used to determine the polymorphism from a total of 150 OSCC patients and 150 normal tissues of same patients were collected as controls for this study. ERCC2 GA (Asp312Asn) AC (Lys751Gln) genotypes were significantly associated ( 0.0001 and = 0.0004, respectively) with OSCC patients, when compared with the controls. These findings suggest that potentially functional SNPs in may contribute to OSCC risk. This study highlights the genetic variant that might play a role in mediating susceptibility to OSCC in this population. An understanding of DNA repair gene polymorphisms might not only enable risk assessment, but also response to therapy, which target the DNA repair pathway.
DNA修复系统在维持人类基因组完整性方面发挥着重要作用。DNA修复基因的突变或遗传多态性导致的修复能力缺陷可能会导致DNA修复能力的差异，进而增加患癌易感性。 本研究旨在探讨切除修复交叉互补组2（ERCC2）单核苷酸多态性（SNPs rs1799793和rs13181）与口腔鳞状细胞癌（OSCC）患者铂类化疗反应之间的关联。 采用基于聚合酶链反应的限制性片段长度多态性分析方法，对150例OSCC患者进行多态性检测，并收集同一患者的150份正常组织作为本研究的对照。 与对照组相比，ERCC2 GA（Asp312Asn）和AC（Lys751Gln）基因型与OSCC患者显著相关（分别为P < 0.0001和P = 0.0004）。这些发现表明，ERCC2中潜在的功能性单核苷酸多态性可能会增加患OSCC的风险。本研究强调了这种基因变异可能在介导该人群对OSCC的易感性中发挥作用。了解DNA修复基因多态性不仅有助于风险评估，还能为针对DNA修复途径的治疗反应提供参考。
