卵巢癌患者线粒体DNA谱(COX 2)的鉴定——印度南部一项基于人群的研究

Mahalaxmi Iyer, Kaavya Jayaramayya, G. Bupesh, S. Kumaran
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摘要

摘要:目的:卵巢癌(Ovarian cancer, OC)是一种最危险的妇科肿瘤,多发生于50岁及以上女性,预后较差。mtDNA已成为OC进展的主要热点候选者。因此,本研究的目的是利用PCR - RFLP技术研究线粒体dna中COX - 2基因的多态性。方法:在本研究中,从OC患者和年龄匹配的对照组中获得详细的问卷和同意书。从肿瘤诊所和印度南部的人群调查中收集了OC患者的血液样本(n = 72)。选取无肿瘤病史的对照组(n=72),按年龄、性别和种族进行匹配。采集外周血,采用PCR - RFLP检测COX - 2基因多态性。结果:在本研究中,我们发现COX - 2cc纯合子基因型的OC患者有更高的OC进展风险,而对照组的GG基因型显示其对OC风险的保护作用。结论:COX - 2cc基因型可能参与了卵巢癌的发病过程。虽然基因多态性研究在调节卵巢癌风险方面非常有限,但本研究的结果可能有助于未来的基因型分析。因此,未来需要更多的遗传学研究来证明基因型变异、COX - 2突变可能是卵巢癌发生的主要因素,并可作为治疗策略的候选生物标志物。
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Identification of mitochondrial DNA profiling (COX 2) in ovarian cancer patients � A population-based study in South India
http://dx.doi.org/10.21276/IJRDPL.22780238.2019.8(1).25-28 ABSTRACT: Objectives: Ovarian cancer (OC) is a most dangerous gynecological cancer affecting women aged mostly in 50s and above due to its poor prognosis. mtDNA has been emerging as a prime hotspot candidate for the progression of OC. Thus, the objective of the present study was to investigate polymorphisms in COX – 2 gene in mtDNA by using PCR – RFLP. Methods: In the present study, detailed questionnaire and consent forms have been obtained from the OC patients and the age – matched controls. Blood samples from OC patients (n = 72) were collected from oncological clinics, and by population-based survey in South India. Control subjects (n=72) who had no history of tumors were selected and they were matched for age, sex and race. Peripheral blood was collected to detect polymorphism in the COX – 2 gene using PCR – RFLP. Result: In the present study, we found that OC patients with COX – 2 CC homozygous genotype showed higher risk for OC progression, whereas, the GG genotype in controls revealed its protection against the OC risk. Conclusion: In conclusion, our results suggests that, COX – 2 CC genotype may contribute to the development of OC pathogenesis. Though genetic polymorphism investigation was very limited to modulate the OC risks, the outcome of this study may help in future genotypic analysis. Thus, in future more genetic studies are warranted to prove that genotypic variation, mutations in COX – 2 would be a prime factor in Ovarian Carcinogenesis, and it can be used as candidate biomarker in treatment strategies.
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