文章基本信息

标题：Genomics, Telomere Length, Epigenetics, and Metabolomics in the Nurses’ Health Studies
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作者：Mary K. Townsend ; Hugues Aschard ; Immaculata De Vivo 等
期刊名称：American journal of public health
印刷版ISSN：0090-0036
出版年度：2016
卷号：106
期号：9
页码：1663-1668
DOI：10.2105/AJPH.2016.303344
语种：English
出版社：American Public Health Association
摘要：Objectives. To review the contribution of the Nurses’ Health Study (NHS) and NHS II to genomics, epigenetics, and metabolomics research. Methods. We performed a narrative review of the publications of the NHS and NHS II between 1990 and 2016 based on biospecimens, including blood and tumor tissue, collected from participants. Results. The NHS has contributed to the discovery of genetic loci influencing more than 45 complex human phenotypes, including cancers, diabetes, cardiovascular disease, reproductive characteristics, and anthropometric traits. The combination of genomewide genotype data with extensive exposure and lifestyle data has enabled the evaluation of gene–environment interactions. Furthermore, data suggest that longer telomere length increases risk of cancers not related to smoking, and that modifiable factors (e.g., diet) may have an impact on telomere length. “Omics” research in the NHS continues to expand, with epigenetics and metabolomics becoming greater areas of focus. Conclusions. The combination of prospective biomarker data and broad exposure information has enabled the NHS to participate in a variety of “omics” research, contributing to understanding of the epidemiology and biology of multiple complex diseases. Multiple types of biospecimens, including toenails, blood, urine, cheek cells, hair, and stool, have been collected from Nurses’ Health Study (NHS) and NHS II participants and archived for future use in epidemiological studies. Although collecting blood from a large number of participants residing across a wide geographical area is expensive and logistically challenging, this provides the ability to conduct prospective research on underlying mechanisms of chronic disease. In particular, in a prospective versus cross-sectional study, an observed biomarker–disease association is more likely to reflect an actual role of the biomarker in disease etiology and less likely to be attributable to an influence of disease or disease treatment on biomarker levels. This article will review the contributions of the NHS and NHS II to biomarker research, focusing particularly on “omics” research findings. “Omics,” which includes genomics, epigenetics, transcriptomics, proteomics, metabolomics, and microbiomics, encompasses the various technologies used to understand the complex biological pathways underlying disease onset and progression. 1 We begin with an overview of study design and analysis considerations relevant to biomarker research in the NHS and NHS II. Next, we review results from genetic association and telomere length studies in the cohorts. Finally, we discuss future “omics” research directions in these cohorts, including initial findings from studies of epigenetics and metabolomics. The ethical concerns inherent in “omics” research that uses archived biospecimens, such as data sharing, participant identifiability, and informed consent, should be noted, although this topic is not a focus of this review. The NHS and NHS II have addressed these concerns by ensuring that participants who donated biospecimens remain informed of “omics” research directions in the cohorts and their right to request that their biospecimens are not used for this research. This information is disseminated in annual newsletters mailed to all participants as well as letters mailed specifically to participants who provided a biospecimen.