重庆市孕前生殖健康与出生结局队列：设计简介与建设概况

出生队列是研究生命早期暴露对健康结局影响的重要工具, 但目前缺乏有力支撑孕前暴露特别是父系暴露对生殖健康和妊娠结局影响研究的大型队列平台。重庆市孕前生殖健康与出生结局队列研究是起始于孕前阶段, 同等关注男女双方的环境、心理、行为等暴露因素对生殖健康和不良妊娠结局影响的前瞻性队列研究。项目于2019年正式启动, 计划招募有生育意愿的育龄夫妇20 800人。通过随访, 调查志愿者2年内是否自然受孕。对进入妊娠期的女性志愿者, 在孕早、中、晚期进一步随访, 并对分娩的子代随访至2岁, 监测早产、低出生体重、出生缺陷、神经功能发育障碍等结局发生情况。各阶段分别采集相应的数据信息和生物样本, 包括精液、外周血、尿液、胎盘、脐带、脐带血、口腔拭子等。截至2022年1月, 已纳入志愿者8 698人, 分布于重庆市所有38个区/县。本队列建设目标是成为涵盖父母双方的前瞻性大样本孕前出生队列, 将以独特的设计和更加全面的视角阐明全生育周期特别是孕前期暴露因素对生殖健康和不良出生结局的影响及机制。     

The chemical exposome of type 2 diabetes mellitus: Opportunities and challenges in the omics era

Type 2 diabetes mellitus (T2DM) is a global silent killer, with > 450 million affected adults worldwide. A diverse array of non-modifiable risk factors such as family history, age (> 45 yrs), race/ethnicity, genetics, and history of gestational diabetes and modifiable risk factors such as physical inactivity, high body fat, body weight, high blood pressure, and high cholesterol for progression of prediabetes to T2DM. Given, that the modern world human population is constantly exposed to multiple stressors in the form of physical (i.e., sound, weather etc.) and chemical environment (i.e., diet, pollutants etc.), industrialization, and modernization has led to form a basis for exposomal correlation with T2DM incidence. Over the past decade, there have been emerging reports on association of levels of persistent organic pollutants (POPs), phthalates, antibiotics, drugs, air pollution, pesticides, and heavy metals with T2DM. In this review, we discuss the well known chemical exposome that has been associated with T2DM; the tools and approaches to capture this chemical exposome, and future opportunities and challenges in this exciting area of research. We further provide a window of thoughts, whether omics technologies can help fill in the gaps to help provide high throughput exposomics datasets in an unbiased manner to help understand T2DM pathophysiology in the context of industrialization, drastic lifestyle changes, urbanization, and pollution. We also discuss and provide guidelines/call to action for future exposomics studies investigating the association of T2DM with exposomes in the context of both epidemiological and experimental approaches.     

暴露组与暴露组学

人类复杂疾病主要是由环境因素或者环境与遗传因素相互作用所致.自人类基因组计划开展以来,有关遗传因索与复杂疾病发病关系的研究进展非常迅速,相比之下,环境暴露与复杂疫病关系的研究却没有得到应有的重视和发展.暴露组与暴露组学的提出,为推动环境因素与人类健康之间关系的研究提供了新思路.     

Environmental exposure as a risk-modifying factor in liver diseases: Knowns and unknowns

Liver diseases are considered to predominantly possess an inherited or xenobiotic etiology. However, inheritance drives the ability to appropriately adapt to environmental stressors, and disease is the culmination of a maladaptive response. Thus “pure” genetic and “pure” xenobiotic liver diseases are modified by each other and other factors, identified or unknown. The purpose of this review is to highlight the knowledgebase of environmental exposure as a potential risk modifying agent for the development of liver disease by other causes. This exercise is not to argue that all liver diseases have an environmental component, but to challenge the assumption that the current state of our knowledge is sufficient in all cases to conclusively dismiss this as a possibility. This review also discusses key new tools and approaches that will likely be critical to address this question in the future. Taken together, identifying the key gaps in our understanding is critical for the field to move forward, or at the very least to “know what we don't know.”     

Spatial Lifecourse Epidemiology Reporting Standards (ISLE-ReSt) statement

Spatial lifecourse epidemiology is an interdisciplinary field that utilizes advanced spatial, location-based, and artificial intelligence technologies to investigate the long-term effects of environmental, behavioural, psychosocial, and biological factors on health-related states and events and the underlying mechanisms. With the growing number of studies reporting findings from this field and the critical need for public health and policy decisions to be based on the strongest science possible, transparency and clarity in reporting in spatial lifecourse epidemiologic studies is essential. A task force supported by the International Initiative on Spatial Lifecourse Epidemiology (ISLE) identified a need for guidance in this area and developed a Spatial Lifecourse Epidemiology Reporting Standards (ISLE-ReSt) Statement. The aim is to provide a checklist of recommendations to improve and make more consistent reporting of spatial lifecourse epidemiologic studies. The STrengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement for cohort studies was identified as an appropriate starting point to provide initial items to consider for inclusion. Reporting standards for spatial data and methods were then integrated to form a single comprehensive checklist of reporting recommendations. The strength of our approach has been our international and multidisciplinary team of content experts and contributors who represent a wide range of relevant scientific conventions, and our adherence to international norms for the development of reporting guidelines. As spatial, location-based, and artificial intelligence technologies used in spatial lifecourse epidemiology continue to evolve at a rapid pace, it will be necessary to revisit and adapt the ISLE-ReSt at least every 2–3 years from its release.     

基于多组学的肿瘤病因学研究：从基因组学、暴露组学、代谢组学到系统流行病学

探索疾病病因是流行病学的主要任务之一。随着基因组、转录组、蛋白质组、代谢组、暴露组等组学技术的进步, 肿瘤病因学研究进入系统流行病学研究阶段。基因组学研究致力于发掘肿瘤遗传易感位点及其致病机制。暴露组学研究探索环境因素对机体生物学过程的影响及其致病效应。而代谢组处于生物调控网络的下游, 反映了基因-环境及其交互作用的总效应, 有助于阐明遗传和环境因素的致病机制, 发现新的生物标志物。本文介绍基因组学、暴露组学和代谢组学在肿瘤病因学研究中的应用与进展, 总结多组学和系统流行病学在肿瘤病因学研究中的意义和价值, 展望未来发展方向。