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Sampling in the Examination of Gene-Environmental Interactions Within a Neurodevelopmental Disorder Framework

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Gene-Environment Transactions in Developmental Psychopathology

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Abstract

Understanding the roles of GxE in the pathogenesis of NDDs requires scientific rigor in each step of designing study methods, executing experiments, analyzing data, and reporting study results. Epidemiological and population-based sampling method should be applied that allow for the capture of the entire spectrum of both a given phenotype and the environmental risks. Both categorical and dimensional phenotypic characterization should be considered: they are rather complementary than exclusive. Direct environmental measurement at the level of the individual should be conducted with accurate, specific, and sensitive measures/biomarkers. To ascertain sample size that have sufficient power to detect modest effect sizes of GxE, datasharing and large-scale collaborations will set the stage for progress in understanding GxE in NDDs. And, finally, despite the challenges, there are important roles for RCTs in uncovering GxE. While such studies may be very difficult to design and implement, their potential for carefully and safely manipulating specific biological systems may rapidly move the field forward. With very few mechanisms understood at this time, even one replicable mechanistic GxE study will be a giant step forward in the field.

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Authors and Affiliations

  1. Langley Porter Psychiatric Institute, University of California at San Francisco, Box 0984-CAS, Room LP-377 401 Parnassus Avenue, San Francisco, CA, 94143-0984, USA

    Young Shin Kim M.D., Ph.D.

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  1. Young Shin Kim M.D., Ph.D.
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Correspondence to Young Shin Kim M.D., Ph.D. .

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Editors and Affiliations

  1. Youth-Nex Center, University of Virginia, Charlottesville, Virginia, USA

    Patrick H. Tolan

  2. Department of Psychiatry, University of California at San Francisco, San Francisco, California, USA

    Bennett L. Leventhal

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Kim, Y.S. (2017). Sampling in the Examination of Gene-Environmental Interactions Within a Neurodevelopmental Disorder Framework. In: Tolan, P., Leventhal, B. (eds) Gene-Environment Transactions in Developmental Psychopathology. Advances in Development and Psychopathology: Brain Research Foundation Symposium Series, vol 2. Springer, Cham. https://doi.org/10.1007/978-3-319-49227-8_7

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