Health and Biomedical Innovation, UniSA Clinical and Health Sciences, University of South Australia, Adelaide, 5000, Australia; Genome Health Foundation, North Brighton, SA, 5048, Australia; Universiti Kebangsaan Malaysia, 43600, Bangi, Selangor, Malaysia.
Institute of Cancer Research, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
Mutat Res Rev Mutat Res. 2021 Jul-Dec;788:108384. doi: 10.1016/j.mrrev.2021.108384. Epub 2021 Jun 5.
The purpose of the "Micronuclei and Disease" special issue (SI) is to: (i) Determine the level of evidence for association of micronuclei (MN), a biomarker of numerical and structural chromosomal aberrations, with risk of specific diseases in humans; (ii) Define plausible mechanisms that explain association of MN with each disease; (iii) Identify knowledge gaps and research needed to translate MN assays into clinical practice. The "MN and Disease" SI includes 14 papers. The first is a review of mechanisms of MN formation and their consequences in humans. 11 papers are systematic reviews and/or meta-analyses of the association of MN with reproduction, child health, inflammation, auto-immune disease, glycation, metabolic diseases, chronic kidney disease, cardiovascular disease, eleven common cancers, ageing and frailty. The penultimate paper focuses on effect of interventions on MN frequency in the elderly. A road map for translation of MN data into clinical practice is the topic of the final paper. The majority of reviewed studies were case-control studies in which the ratio of mean MN frequency in disease cases relative to controls, i.e. the mean ratio (MR), was calculated. The mean of these MR values, estimated by meta-analyses, for lymphocyte and buccal cell MN in non-cancer diseases were 2.3 and 3.6 respectively, and for cancers they were 1.7 and 2.6 respectively. The highest MR values were observed in studies of cancer cases in which MN were measured in the same tissue as the tumour (MR = 4.9-10.8). This special issue is an important milestone in the evidence supporting MN as a reliable genomic biomarker of developmental and degenerative disease risk. These advances, together with results from prospective cohort studies, are helping to identify diseases in which MN assays can be practically employed in the clinical setting to better identify high risk patients and to prioritise them for preventive therapy.
本期“微核与疾病”特刊(SI)的目的是:(i)确定微核(MN)作为一种数值和结构染色体畸变的生物标志物,与人类特定疾病风险之间关联的证据水平;(ii)确定解释 MN 与每种疾病关联的合理机制;(iii)确定将 MN 检测转化为临床实践所需的知识空白和研究。“MN 和疾病”SI 包含 14 篇论文。第一篇是关于 MN 形成机制及其在人类中的后果的综述。11 篇论文是关于 MN 与生殖、儿童健康、炎症、自身免疫性疾病、糖化、代谢性疾病、慢性肾脏病、心血管疾病、11 种常见癌症、衰老和虚弱之间关联的系统评价和/或荟萃分析。倒数第二篇论文侧重于干预对老年人 MN 频率的影响。最后一篇论文的主题是将 MN 数据转化为临床实践的路线图。大多数综述研究都是病例对照研究,其中计算了疾病病例与对照组之间 MN 频率的均值比(MR)。通过荟萃分析估计的非癌症疾病中淋巴细胞和口腔细胞 MN 的平均 MR 值分别为 2.3 和 3.6,癌症中的平均 MR 值分别为 1.7 和 2.6。在研究中观察到最高的 MR 值,其中 MN 是在与肿瘤相同的组织中测量的癌症病例(MR = 4.9-10.8)。本期特刊是支持 MN 作为发育和退行性疾病风险可靠基因组生物标志物的证据的重要里程碑。这些进展,以及前瞻性队列研究的结果,正在帮助确定可以在临床环境中实际应用 MN 检测的疾病,以便更好地识别高危患者并优先为他们进行预防性治疗。