ERCC1 基因遗传多态性与摩洛哥鼻咽癌患者放疗反应的相关性。
Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma.
机构信息
Biology and Medical Research Unit, National Center of Energy, Sciences and Nuclear Techniques, Rabat, Morocco.
Laboratory of Microbiology and Molecular Biology, Faculty of Sciences, Rabat, Morocco.
出版信息
Asian Pac J Cancer Prev. 2023 Jan 1;24(1):93-99. doi: 10.31557/APJCP.2023.24.1.93.
OBJECTIVE
Nasopharyngeal carcinoma (NPC) is a severe malignant disease. Despite its low frequency, NPC is very common in North African population. Radiotherapy is the standard therapeutic treatment of NPC. However, radioresistance hampers the success of treatment. At the molecular scale, radioresistance is due to genetic variations involved in DNA repair pathways in NPC patients. Several studies reported that single nucleotide polymorphisms (SNPs) in excision repair cross complementing group 1 (ERCC1) could be associated with radioresistance. In this optic, the present study aimed to evaluate the association between DNA repair gene polymorphisms ERCC1 C8092A and ERCC1 C118T and radiotherapy response of patients with NPC.
METHODS
A total of 95 patients with confirmed NPC were recruited at the Mohammed VI Center for Cancer Treatment, Casablanca - Morocco between 2016 and 2018. Two single nucleotide polymorphisms in ERCC1 gene were genotyped. Multiple analysis software was used to assess the correlation between these SNPs and radio-therapeutic response.
RESULTS
Sequencing of ERCC1 C8092A polymorphism revealed that CC and CA genotypes were found in 51.6% and 45.3% of cases, respectively, whereas the homozygote AA genotype was reported in only 3.1% of cases. For ERCC1 C118T polymorphism, the heterozygote CT genotype was identified in 49.5% of cases. Homozygotes genotypes CC and TT were detected in 17.9% and 32.6% respectively of NPC cases. Of note, no significant association was found between the ERCC1 C8092A polymorphism and response to radiation therapy (p=0.81). Similarly, there was no significant association between the response to radiotherapy and allelic distribution (p=0.56). Likewise, no correlation was observed neither with genotypes (p=0.07) nor with alleles (p=0.09) of ERCC1 C118T polymorphism and response to radiation therapy.
CONCLUSION
Our results clearly showed that ERCC1 C8092A and ERCC1 C118T polymorphisms were not associated with response to radiotherapy in Moroccan NPC patients. Large studies are warranted to confirm the role of these SNPs in therapeutic response of NPC patients.
目的
鼻咽癌（NPC）是一种严重的恶性疾病。尽管其发病率较低，但北非人群中 NPC 非常常见。放射治疗是 NPC 的标准治疗方法。然而，放射抗性阻碍了治疗的成功。在分子水平上，放射抗性是由于 NPC 患者中涉及 DNA 修复途径的遗传变异引起的。几项研究报告称，切除修复交叉互补组 1（ERCC1）中的单核苷酸多态性（SNP）可能与放射抗性有关。在这种情况下，本研究旨在评估 DNA 修复基因 ERCC1 C8092A 和 ERCC1 C118T 多态性与 NPC 患者放疗反应之间的关系。
方法
2016 年至 2018 年期间，在摩洛哥卡萨布兰卡的穆罕默德六世癌症治疗中心共招募了 95 名确诊为 NPC 的患者。对 ERCC1 基因中的两个单核苷酸多态性进行了基因分型。使用多种分析软件评估这些 SNP 与放射治疗反应之间的相关性。
结果
对 ERCC1 C8092A 多态性的测序显示，CC 和 CA 基因型分别在 51.6%和 45.3%的病例中发现，而纯合 AA 基因型仅在 3.1%的病例中发现。对于 ERCC1 C118T 多态性，杂合 CT 基因型在 49.5%的病例中发现。NPC 病例中分别检测到纯合子 CC 和 TT 基因型分别为 17.9%和 32.6%。值得注意的是，ERCC1 C8092A 多态性与放射治疗反应之间无显著相关性（p=0.81）。同样，ERCC1 C118T 多态性与放射治疗反应的等位基因分布之间也无显著相关性（p=0.56）。同样，ERCC1 C118T 多态性与放射治疗反应的基因型（p=0.07）和等位基因（p=0.09）之间也没有相关性。
结论
我们的结果清楚地表明，ERCC1 C8092A 和 ERCC1 C118T 多态性与摩洛哥 NPC 患者的放射治疗反应无关。需要进行更大的研究来证实这些 SNP 在 NPC 患者治疗反应中的作用。
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