确定线粒体 DNA D 环区的序列多态性是乳腺癌的风险因素之一。

IF 5.7 2区 医学 Q1 Medicine
Cancer Science Pub Date : 2024-10-14 DOI:10.1111/cas.16353
Qian Nie, Wenzhe Zhang, Songping Lin, Meng Huang, Yan Li, Yibin Qiu, Jing Li, Xiaobin Chen, Yali Wang, Xin Tong, Jinqiao Wu, Peng He, Qindong Cai, Lili Chen, Minyan Chen, Wenhui Guo, Yuxiang Lin, Liuwen Yu, Jialin Hou, Weifeng Cai, Hanxi Chen, Chuan Wang, Fangmeng Fu
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引用次数: 0

摘要

线粒体 DNA(mtDNA)变异会影响电子传递链的效率和活性氧的产生,从而导致癌变。线粒体 DNA 的 D 环区已成为人类肿瘤变异的热点区域;然而,这些变异在乳腺癌风险预测中的潜在贡献仍然未知。我们研究了中国女性整个 D 环区的种系单核苷酸多态性(SNPs)与乳腺癌风险之间的关系。我们对 2329 名乳腺癌患者和 2328 名无癌症对照者的外周血分离 mtDNA 进行了 SNPs 检测。在合并队列中,我们使用传统风险因素、易感性种系多态性和逻辑回归分析来评估易感性变异对乳腺癌风险的预测价值。我们计算了接收者操作特征曲线下的面积(AUC)作为衡量标准。我们还测量了 8-羟基-2'-脱氧鸟苷(8-OHdG)的含量。在发现队列和验证队列中,单个多态性 SNP573 与乳腺癌风险有显著相关性。在合并队列中,传统风险因素的 AUC 为 64.3%;加入易感变异后,AUC 为 64.9%(DeLong 检验,p = 0.007)。乳腺癌患者的 8-OHdG 水平明显高于对照组,SNP573 患者的 8-OHdG 水平也高于该变异阴性的患者。总之,氧化应激可能与乳腺癌风险有关,而 SNP573 可能与氧化应激有关。我们的研究结果表明,D-环区域的多态性对华南地区的乳腺癌具有潜在风险。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Identification of sequence polymorphism in the D-loop region of mitochondrial DNA as a risk factor for breast cancer.

Mitochondrial DNA (mtDNA) variations affect the efficiency of the electron transport chain and production of reactive oxygen species, contributing to carcinogenesis. The D-loop region of mtDNA has emerged as a variation hotspot region in human neoplasia; however, the potential contribution of these variations in breast cancer risk prediction remains unknown. We investigated the relationship between germline single nucleotide polymorphisms (SNPs) in the entire D-loop region and breast cancer risk in Chinese women. Peripheral blood-isolated mtDNA from 2329 patients with breast cancer and 2328 cancer-free controls was examined for SNPs. In the combined cohort, we used traditional risk factors, susceptibility germline polymorphisms, and logistic regression analysis to evaluate the predictive value of susceptibility variants for breast cancer risk. We calculated the area under the receiver operating characteristic curve (AUC) as a measure. We also measured the content of 8-hydroxy-2'-deoxyguanosine (8-OHdG). Individual polymorphisms SNP573 were significantly associated with breast cancer risk in both the discovery and validation cohorts. In the combined cohort, the AUC of the traditional risk factors was 64.3%; after adding susceptibility variants, the AUC was 64.9% (DeLong test, p = 0.007). 8-OHdG levels were significantly higher in patients with breast cancer than in controls and higher in individuals with SNP573 than in those negative for this variation. Overall, oxidative stress might be associated with the risk of breast cancer, and SNP573 might be associated with oxidative stress. Our results indicate the risk potential of polymorphisms in the D-loop region in breast cancer in Southern China.

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来源期刊
Cancer Science
Cancer Science ONCOLOGY-
CiteScore
9.90
自引率
3.50%
发文量
406
审稿时长
17 weeks
期刊介绍: Cancer Science (formerly Japanese Journal of Cancer Research) is a monthly publication of the Japanese Cancer Association. First published in 1907, the Journal continues to publish original articles, editorials, and letters to the editor, describing original research in the fields of basic, translational and clinical cancer research. The Journal also accepts reports and case reports. Cancer Science aims to present highly significant and timely findings that have a significant clinical impact on oncologists or that may alter the disease concept of a tumor. The Journal will not publish case reports that describe a rare tumor or condition without new findings to be added to previous reports; combination of different tumors without new suggestive findings for oncological research; remarkable effect of already known treatments without suggestive data to explain the exceptional result. Review articles may also be published.
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