Gene‐environment interplay in common complex diseases: forging an integrative model—recommendations from an NIH workshop

Bookman, Ebony; McAllister, Kimberly A.; Gillanders, Elizabeth M.; Wanke, Kay; Balshaw, David M.; Rutter, Joni L.; Reedy, Jill; Shaughnessy, Daniel T.; Agurs‐Collins, Tanya; Paltoo, Dina N.; Atienza, Audie A.; Bierut, Laura J.; Kraft, Peter; Fallin, M. Daniele; Perera, Frederica P.; Turkheimer, Eric; Boardman, Jason D.; Marazita, Mary L.; Rappaport, Stephen M.; Boerwinkle, Eric; Suomi, Stephen J.; Caporaso, Neil E.; Hertz‐Picciotto, Irva; Jacobson, Kristen C.; Lowe, William L.; Goldman, Lynn R.; Duggal, Priya; Gunnar, Megan R.; Manolio, Teri A.; Green, Eric D.; Olster, Deborah H.; Birnbaum, Linda S.

doi:10.1002/gepi.20571

Cited by 104 publications

(86 citation statements)

References 36 publications

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“…These two examples focus on rare diseases. For the majority of human diseases and disorders, including common complex diseases (e.g., cardiovascular disease, cancer, and diabetes) it is also believed that susceptibility involves the combination of multiple genetic and environmental factors (Bookman et al 2011). Even in a complex disease like lung cancer, where smoking is a strong established risk factor, lung cancer does not develop in everyone who smokes, suggesting that genetic predisposition could play a role in disease risk (Alberg et al 2005).…”

Section: Why Study Gene-environment Interactions?: Implications For Hmentioning

confidence: 98%

Gene-Environment Interactions in Human Health

Mechanic

Hutter

2015

Molecular and Integrative Toxicology

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Risk of most complex diseases is determined by a combination of environmental and genetic factors. By studying gene-environment interactions, it may be possible to describe disease mechanisms, discover novel genetic variants associated with disease, better understand heterogeneity between populations, identify populations with higher risk from exposure, and target preventive and therapeutic interventions. However, there are several challenges to the study of gene-environment interactions. As technologies and analytical tools improve, opportunities to better understand the complex interplay between genes and environment may result in improved insights in disease and treatment outcomes.

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Section: Why Study Gene-environment Interactions?: Implications For Hmentioning

confidence: 98%

Gene-Environment Interactions in Human Health

Mechanic

Hutter

2015

Molecular and Integrative Toxicology

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“…Thousands of cases and controls are required to detect relative risks (Bookman et al, 2011). Future studies could focus on identifying gene-environment interactions for intermediate endophenotypes as a first stage in the process of identifying interactions for such phenotypes (Moffitt, 2005;Bookman et al, 2011).…”

Section: Discussionmentioning

confidence: 99%

“…We have reported our null findings, following Bookman et al (2011) who argued that study designs "should be informed by gene-environment hypotheses and negative results should be published to inform future hypotheses" (p.3).…”

Section: Figure 2 Interaction Effects Between Rs6548678 and Educationmentioning

confidence: 92%

A Study of Gene-Environment Interactions In Entrepreneurship

Quaye¹,

Nicolaou

Shane

et al. 2012

Entrepreneurship Research Journal

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We examined the interactions between four genes associated with dyslexia (ROBO1, KIAA0319, DCDC2, DYX1C1) and education on the tendency to become an entrepreneur. We used a two-staged design consisting of a discovery sample of 692 individuals, and a replication sample of 797 participants from the TwinsUK cohort. Associations were identified between entrepreneurship and interactions of education and ROBO1 rs654867 and KIAA0319 rs6902039 with the stage 1 samples. However these were not independently replicated and the associations were no longer significant when the samples from the 2 stages were combined. A tagging SNP approach was used to investigate the effect of the interactions between education and 191 tagging SNPs from the candidate genes on entrepreneurship. While we found several significant interactions (DCDC2, KIAA0319 and ROBO1), none passed the stringent threshold for significance of a Bonferroni correction. Similar to the case with other behavioural genetics phenotypes, large sample sizes will be required to identify significant gene-environment interactions in entrepreneurship after making Bonferroni corrections.

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“…Only 17% of published abstracts explicitly mention gene-environment interactions, and almost half of these focus on gene-drug interactions (pharmacogenomics). Studying the joint effects of genes and the environment is still methodologically challenging; analytic methods are still in flux and will be evolving rapidly during the next few years [Thomas, 2010a,b;Bookman et al, 2011;Kraft and Hunter, 2005;Mukherjee et al, 2010;Gwinn et al, 2009].…”

Section: Trends In the Huge Literature 2001-2010mentioning

confidence: 99%

Genetic epidemiology with a Capital E, ten years after

Khoury¹,

Gwinn²,

Clyne³

et al. 2011

Genetic Epidemiology

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More than a decade after Duncan Thomas gave his presidential address at the International Society for Genetic Epidemiology entitled "Genetic Epidemiology with a Capital E," genetic epidemiology has gone mainstream. Epidemiology has taken its place not only in gene discovery studies but also in characterizing genetic effects and gene-environment interactions in populations. Furthermore, epidemiologic principles are being applied to the evaluation of genetic tests. We used an online informatics tool, the HuGE Navigator, to describe the growth in the field in the past decade. We developed the HuGE Navigator as a means to continuously monitor the evolving information obtained from epidemiologic studies of the human genome. Between 2001 and 2010, the HuGE Navigator included 57,005 articles published in 2,396 journals. During that period, the annual number of publications increased almost four-fold. The articles included 986 genome-wide association studies and 1,879 meta-analyses of gene-disease associations. The total number of authors of published studies grew from 12,907 in 2001 to 48,389 in 2010. The number of diseases also increased over time, from 697 medical subject headings in 2001 to 1,404 in 2010. Gene-environment interaction was mentioned explicitly in 17% of published abstracts, almost half of which focused on gene-drug interactions. Clearly, genetic epidemiology has gone "capital E" in the past decade; however, the ever-expanding volume and variety of genomic information poses a formidable challenge for developing appropriate methods for analysis, synthesis, and inference on complex genetic and environmental effects. We extend Duncan Thomas' capital E to include "Evaluation" as the tools of epidemiology are increasingly used to assess how genome-based information can be applied in medicine and public health.

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Gene‐environment interplay in common complex diseases: forging an integrative model—recommendations from an NIH workshop

Cited by 104 publications

References 36 publications

Gene-Environment Interactions in Human Health

Gene-Environment Interactions in Human Health

A Study of Gene-Environment Interactions In Entrepreneurship

Genetic epidemiology with a Capital E, ten years after

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