Am J Epidemiol. 2020 Dec 1;189(12):1451-1460. doi: 10.1093/aje/kwaa095.
Although transgenerational effects of exposure to ionizing radiation have long been a concern, human research to date has been confined to studies of disease phenotypes in groups exposed to high doses and high dose rates, such as the Japanese atomic bomb survivors. Transgenerational effects of parental irradiation can be addressed using powerful new genomic technologies. In collaboration with the Ukrainian National Research Center for Radiation Medicine, the US National Cancer Institute, in 2014-2018, initiated a genomic alterations study among children born in selected regions of Ukraine to cleanup workers and/or evacuees exposed to low-dose-rate radiation after the 1986 Chornobyl (Chernobyl) nuclear accident. To investigate whether parental radiation exposure is associated with germline mutations and genomic alterations in the offspring, we are collecting biospecimens from father-mother-offspring constellations to study de novo mutations, minisatellite mutations, copy-number changes, structural variants, genomic insertions and deletions, methylation profiles, and telomere length. Genomic alterations are being examined in relation to parental gonadal dose, reconstructed using questionnaire and measurement data. Subjects are being recruited in exposure categories that will allow examination of parental origin, duration, and timing of exposure in relation to conception. Here we describe the study methodology and recruitment results and provide descriptive information on the first 150 families (mother-father-child(ren)) enrolled.
尽管人们早就对接触电离辐射的跨代效应感到担忧,但迄今为止,人类的研究仅限于对暴露于高剂量和高剂量率的人群(如日本原子弹幸存者)中疾病表型的研究。可以利用强大的新基因组技术来研究父母辐射照射的跨代效应。美国国家癌症研究所与乌克兰国家辐射医学研究中心合作,于 2014 年至 2018 年期间,在乌克兰受 1986 年切尔诺贝利(切尔诺贝利)核事故低剂量率辐射照射的清理工人和/或撤离者所生的子女中,启动了一项基因组改变研究。为了研究父母辐射暴露是否与后代的种系突变和基因组改变有关,我们正在从父子-母子星座收集生物样本,以研究新生突变、微卫星突变、拷贝数变化、结构变异、基因组插入和缺失、甲基化谱和端粒长度。正在检查基因组改变与父母性腺剂量的关系,使用问卷调查和测量数据进行重建。正在按暴露类别招募研究对象,这些类别将允许检查与受孕相关的父母来源、持续时间和暴露时间。在此,我们描述了研究方法和招募结果,并提供了前 150 个家庭(母亲-父亲-子女)的描述性信息。