Maria Fazal Ul Haq, Muhammad Zahid Hussain, Muhammad Shahbaz Haris, Mahmood Akhtar Kayani, Ishrat Mahjabeen
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引用次数: 0
摘要
背景：以往关于脑肿瘤的研究都是针对核基因组进行的，但对线粒体基因组的研究报道有限。线粒体 sirtuin（SIRT3/SIRT4/SIRT5）在不同癌症中都发生了突变。对脑肿瘤的研究有限。异柠檬酸脱氢酶（IDH）是一个重要的标志物，据报道，IDH基因的多态性可区分脑肿瘤亚型：收集1000份血液样本（500名脑肿瘤患者和500名对照组）。采用 Tetra-ARMS PCR 技术筛选了 SIRT3（rs12226697、rs570591）、SIRT4（rs184496260、1925909）、SIRT5（rs2841522、rs2841523）各基因的两个 SNP 和 IDH 的一个 SNP（rs11554137）：结果：逻辑回归显示，与野生型相比，所选 SNP 的突变基因型与疾病发病率的增加有关。单倍型分析和连锁不平衡（LD）显示，在脑肿瘤患者中存在较强的LD。Kaplan-Meier分析表明，突变等位基因频率与脑肿瘤患者生存率的显著下降有关：本研究表明，所选线粒体 sirtuins SNP 的突变等位基因与脑肿瘤风险增加有关。
Genetic variants in mitochondrial sirtuins associated with brain tumor risk: a case-control study.
Background: Previous studies on brain tumors have been performed on the nuclear genome, but limited studies have been reported on the mitochondrial genome. The mitochondrial sirtuin (SIRT3/SIRT4/SIRT5) has been mutated in different cancers. Limited studies have been performed on brain tumors. Isocitrate dehydrogenase (IDH) is an important marker, and polymorphism in the IDH gene has been reported to differentiate the brain tumor subtypes.
Aim: The present study was designed to screen mitochondrial sirtuins and IDH polymorphisms in brain tumor patients.
Methodology: One thousand blood samples were collected (500 brain tumor patients and 500 controls). Two SNPs for each gene SIRT3 (rs12226697, rs570591), SIRT4 (rs184496260, 1925909), SIRT5 (rs2841522, rs2841523), and one SNP for IDH (rs11554137) was screened using Tetra-ARMS PCR.
Results: Logistic regression showed that the mutant genotype of selected SNPs was associated with increased disease incidence compared to wild type. Haplotype analysis and linkage disequilibrium (LD) showed a strong LD in brain tumor patients. Kaplan-Meier analysis showed that mutant allele frequency was found to be associated with a significant decrease in the survival of brain tumor patients.
Conclusion: The present study showed that the mutant allele of selected mitochondrial sirtuins' SNP was associated with increased brain tumor risk.
期刊介绍：
Future Oncology (ISSN 1479-6694) provides a forum for a new era of cancer care. The journal focuses on the most important advances and highlights their relevance in the clinical setting. Furthermore, Future Oncology delivers essential information in concise, at-a-glance article formats - vital in delivering information to an increasingly time-constrained community.
The journal takes a forward-looking stance toward the scientific and clinical issues, together with the economic and policy issues that confront us in this new era of cancer care. The journal includes literature awareness such as the latest developments in radiotherapy and immunotherapy, concise commentary and analysis, and full review articles all of which provide key findings, translational to the clinical setting.
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