Personalized Environment and Genes Study (PEGS)

个性化环境和基因研究 (PEGS)

基本信息

项目摘要

The Environmental Polymorphisms Registry (EPR), now called Personalized Environment and Genes Study (PEGS) of over 17,000 participants provides a unique resource for a variety of studies dedicated to clarifying the interaction of genetic and environmental determinants of human health. The PEGS's subject and sample resources (blood, DNA, and other materials) can be used to examine environmental factors and gene-environment interactions in health and disease. Genotypic, phenotypic, and exposome data collected by the PEGS is used by collaborating scientists and physicians, with or without re-contact of participants, for follow-up clinical studies, to identify disease mechanisms, and to better understand individual susceptibility to disease resulting from environmental factors. In a subset of participants, DNA was subjected to whole genome sequencing (WGS) for more in-depth analysis of gene-by-environment interactions in the pathogenesis of disease. A subset of PEGS participants have also provided disease and exposure data that support a wide range of research questions. Continuing enrollment and participation of these subjects, coupled with the ability to link their data with additional, is of increasing value in this era of personalized/precision medicine. DNA samples are available to scientists to study variations in genes (polymorphisms) that may be linked to common diseases such as diabetes, heart disease, cancer, asthma and others. While many types of genes are studied as part of the EPR, the focus is on genes that may increase the risk of human disease when combined with environmental exposures (environmental response genes). Alternatively, these genes may also decrease risk of disease by protecting individuals after environmental exposures. PEGS surveys are designed to collect health, family history of disease, environmental exposures, and lifestyle data. Data from questionnaires are used to identify EPR participants who may be eligible for follow-up studies based on their health, family history, or exposures. These surveys make the EPR more useful in answering research questions related to gene-environment interactions and help researchers to develop new ways of preventing, diagnosing, and treating common diseases. PEGS Health and Exposure Survey: The PEGS Health and Exposure Survey is designed to gather health, family history of disease, environmental exposures, socioeconomic status, and lifestyle data on EPR participants. The self-administered survey, consisting of approximately 200 questions, focuses on general demographics, medical and family history, lifestyle factors, including smoking and alcohol use, and occupational exposures. Questions from validated surveys (e.g. National Health Information Survey, National Health and Nutrition Examination Survey) were used in their original format or adapted for use in the EPR. The survey is available to all PEGS participants. The information collected from 9,000 participants has been used to better characterize the EPR population, making it more useful in answering research questions related to gene-environment interactions. Data from the survey have helped researchers develop hypotheses, design follow-up studies, and select appropriate participants for participation in these follow-up studies. Exposome Survey: The PEGS Exposome Survey is designed to further enhance the EPR as a resource for NIEHS researchers and collaborators to investigate how exposures interact with an individual's unique genetic and physiologic characteristics to affect health. Approaches such as epigenomics are able to focus on the nature and timing of environmental exposures in influencing gene expression or cellular phenotypes (vs. structural changes to the genotype per se). An exposome approach offers a framework for integrating the complex world of exposures and forces impacting genome function throughout the life course. The incorporation of the exposome framework into scientific research has been limited, in part by the lack of established resources for its definition and measurement that incorporate the broader exposures encompassed by the exposome, including diet, behavior, and other endogenous and exogenous agents across life. The NIEHS PEGS Exposome Survey represents an attempt to develop a comprehensive instrument that measures an array of environmental exposures across life. In conjunction with the biorepository of DNA samples and the phenotype and lifestyle exposure data available from the earlier EPR Health and Exposure Survey, we believe the EPR Exposome Survey will be a powerful tool for exploring gene-environment interactions that can advance our understanding of complex determinants of health and disease across the life span. Questionnaire content was developed using resources such as the PhenX Toolkit, NHANES questionnaires, other NIEHS, NIH, CDC/ATSDR forms, validated scales (e.g., Cohen Perceived Stress Scale), and forms from other large cohort studies. The survey was first offered to participants beginning in early 2017, and over 3,000 participants have completed the survey to date. Administration of the survey occurs in two parts. Part A (200 questions) focuses on external exposures, including chemical and environmental exposures at home and work. Part B (200 questions) focuses on internal exposures, including medications, physical activity, stress, sleep, and diet. Data from the survey will help researchers develop hypotheses, design follow-up studies, and select appropriate participants for enrollment in the follow-up studies. Core Medical History Form: The Core Medical History Form is administered to PEGS participants visiting the NIEHS Clinical Research Unit (CRU). This form is used to collect medical history data. PEGS participants complete the Core Medical History form as part of their enrollment visit at the CRU, and update the form when they return to the CRU for research study visits. Data from the Core Medical History form is available to the PEGS to better characterize the PEGS population and enhance the PEGS as a resource for NIEHS researchers and collaborators. The Core Medical History Form includes questions on the following topics: 1) Current or Past Diseases and Medical Conditions; 2) Smoking History; 3) Alcohol History; 4) Sleep; and 5) Surgical History. The PEGS is unique in that it is a "linked" DNA registry. DNA samples are coded with personal identification numbers (PINs) that are linked back to registrants' identities, survey responses about their health and environmental exposures, and contact information. This gives researchers the ability to ask registrants to come back and participate in a wide variety of voluntary follow-up studies based on their genetic, health, or exposure profiles. We ask some PEGS participants to join other studies with the purpose of studying how genetic differences affect our bodies, or whether these differences are involved in certain conditions. We also ask some participants to join follow-up studies based on health or exposure history, responses to PEGS surveys, or other factors. This project involves research on human coronavirus, novel coronavirus, COVID-19, Severe Acute Respiratory Syndrome coronavirus disease, SARS coronavirus, SARS-coronavirus-2, SARS-cov-2, SARS-cov2, SARS-related coronavirus 2, Severe acute respiratory syndrome coronavirus 2, SARS-Associated Coronavirus, SARS-cov, or SARS-Related Coronavirus.
17,000多名参与者的环境多态性注册表(EPR)现在称为个性化环境和基因研究(PEG),为各种研究提供了独特的资源,该研究致力于阐明人类健康的遗传和环境决定因素的相互作用。 PEG的主题和样本资源(血液,DNA和其他材料)可用于检查健康和疾病中的环境因素和基因环境相互作用。 PEGS收集的基因型,表型和外界数据是由科学家和医师合作使用的,无论是否重新接触参与者,进行后续研究,以识别疾病机制,以更好地了解疾病的易感性,并了解个人对疾病的敏感性环境因素。在参与者的一部分中,DNA接受了整个基因组测序(WGS),以对疾病发病机理中基因相互作用进行更深入的分析。 一部分PEG参与者还提供了支持广泛研究问题的疾病和暴露数据。在这个个性化/精确医学时代,这些主题的持续入学和参与以及将其数据与其他数据联系起来的能力是增加的价值。 科学家可以使用DNA样本研究可能与糖尿病,心脏病,癌症,哮喘等常见疾病有关的基因变异(多态性)。尽管研究了许多类型的基因作为EPR的一部分,但重点是与环境暴露结合使用(环境反应基因)时可能增加人类疾病风险的基因。另外,这些基因也可能通过保护环境暴露后的个体来降低疾病的风险。 PEGS调查旨在收集健康,疾病家族史,环境暴露和生活方式数据。来自问卷的数据用于识别EPR参与者,他们可能有资格根据其健康,家族史或暴露的后续研究进行后续研究。这些调查使EPR在回答与基因环境相互作用有关的研究问题方面更有用,并帮助研究人员开发预防,诊断和治疗常见疾病的新方法。 PEGS健康与暴露调查:PEGS健康与暴露调查旨在收集健康,环境暴露家族史,环境暴露,社会经济状况以及有关EPR参与者的生活方式数据。自我管理的调查包括大约200个问题,重点是一般人口统计学,医学和家族史,生活方式因素,包括吸烟和饮酒以及职业暴露。经过验证的调查(例如,国家健康信息调查,国家健康和营养调查调查)的问题以其原始格式使用或适用于EPR。该调查可供所有PEGS参与者使用。从9,000名参与者中收集的信息已被用来更好地表征EPR人群,从而使其在回答与基因环境相互作用有关的研究问题方面更有用。调查的数据帮助研究人员提出了假设,设计后续研究,并选择了适当的参与者参加这些后续研究。 EXPOSOME调查:PEGS Exposome调查旨在进一步增强EPR作为NIEHS研究人员和合作者的资源,以调查暴露于个人如何与个人的独特遗传和生理特征相互作用以影响健康。诸如表观基因组学之类的方法能够关注影响基因表达或细胞表型的环境暴露的性质和时机(与基因型本身的结构变化相比)。一种宣传体方法提供了一个框架,以整合整个生命过程中影响基因组功能的复杂暴露和力量世界。将杂物组框架纳入科学研究的部分受到了限制,部分原因是缺乏其定义和测量资源,这些资源包括包含exposome所包含的更广泛的暴露,包括饮食,行为以及其他整个生命的内源性和外源性药物。 NIEHS PEGS Exposome调查代表了一种试图开发一种综合工具,该工具衡量了整个生命的一系列环境暴露。结合了DNA样品的生物验证以及早期EPR健康和暴露调查可提供的表型和生活方式暴露数据,我们相信EPR Exposome调查将是探索基因环境相互作用的有力工具,可以提高我们对复杂确定性的理解整个生命周期的健康和疾病。问卷内容是使用诸如苯克斯工具包,NHANES问卷,其他NIEH,NIH,CDC/ATSDR形式,经过验证的量表(例如Cohen感知到的压力量表)以及其他大型队列研究的形式的资源开发的。该调查首先是向2017年初开始的参与者提供的,迄今为止,已有3,000多名参与者完成了调查。调查的管理分为两部分。 A部分(200个问题)着重于外部暴露,包括在家和工作中的化学和环境暴露。 B部分(200个问题)着重于内部暴露,包括药物,体育锻炼,压力,睡眠和饮食。调查的数据将帮助研究人员提出假设,设计后续研究,并选择适当的参与者进行后续研究。 核心病史表格:核心病史表格是针对参观NIEHS临床研究部门(CRU)的PEGS参与者的。此表格用于收集病史数据。 PEGS参与者在CRU的入学访问中填写了核心病史表格,并在返回CRU进行研究研究访问时更新表格。 PEG可以使用来自核心病史表格的数据,以更好地表征PEGS人群并增强PEG作为NIEHS研究人员和合作者的资源。核心病史表格包括以下主题:1)当前或过去的疾病和医疗状况; 2)吸烟史; 3)酒精病史; 4)睡眠; 5)手术史。 PEG是独一无二的,因为它是一个“链接”的DNA注册表。 DNA样本与个人识别号(PIN)一起编码,这些数字(PIN)与注册人的身份,有关其健康和环境暴露的调查答复以及联系信息。这使研究人员有能力要求注册者回来并根据其遗传,健康或暴露概况参加各种自愿随访研究。 我们要求一些PEG参与者加入其他研究,目的是研究遗传差异如何影响我们的身体,或者这些差异是否涉及某些条件。我们还要求一些参与者根据健康或暴露历史,对PEGS调查的反应或其他因素加入后续研究。 该项目涉及研究人类冠状病毒,新型冠状病毒,Covid-19,严重急性呼吸综合症冠状病毒疾病,SARS冠状病毒,SARS-Coronavirus-2,SARS-CORONAVIRUS-2,SARS-COV-2,SARS-COV-2,SARS-COV2,SARS-COV2,SARS-COVIRUS 2综合征冠状病毒2,与SARS相关的冠状病毒,SARS-COV或与SARS相关的冠状病毒。

项目成果

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Janet Hall其他文献

Janet Hall的其他文献

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{{ truncateString('Janet Hall', 18)}}的其他基金

Genetic Determinants of Hypothalamic Amenorrhea
下丘脑闭经的遗传决定因素
  • 批准号:
    10696796
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:
Caloric Restriction, Environment, and Fitness: Reproductive Effects Evaluation Study (CaREFREE Study)
热量限制、环境和健康:生殖影响评估研究(CaREFREE 研究)
  • 批准号:
    10928607
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:
Genetic Determinants of Hypothalamic Amenorrhea
下丘脑闭经的遗传决定因素
  • 批准号:
    10252596
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:
Caloric Restriction, Environment, and Fitness: Reproductive Effects Evaluation Study (CaREFREE Study)
热量限制、环境和健康:生殖影响评估研究(CaREFREE 研究)
  • 批准号:
    10252597
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:
Genetic Determinants of Hypothalamic Amenorrhea
下丘脑闭经的遗传决定因素
  • 批准号:
    10929070
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:
Program in Clinical Research, Clinical Support Services and Clinical Training
临床研究、临床支持服务和临床培训项目
  • 批准号:
    10925024
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:
Program in Clinical Research, Clinical Support Services and Clinical Training
临床研究、临床支持服务和临床培训项目
  • 批准号:
    10252620
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:
Personalized Environment and Genes Study (PEGS)
个性化环境和基因研究 (PEGS)
  • 批准号:
    10925020
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:
Studies in Patients with Congenital GnRH Deficiency
先天性 GnRH 缺乏症患者的研究
  • 批准号:
    10696795
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:
Studies in Patients with Congenital GnRH Deficiency
先天性 GnRH 缺乏症患者的研究
  • 批准号:
    10252595
  • 财政年份:
  • 资助金额:
    $ 68.56万
  • 项目类别:

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建立用于传染病研究的蝙蝠资源
  • 批准号:
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