期刊
BIOLOGICAL PSYCHIATRY
卷 77, 期 1, 页码 66-74出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.biopsych.2014.11.001
关键词
Autism spectrum disorders; Environment; Genes; Genetic epidemiology; Interactions; Neurodevelopmental disorders
资金
- National Institutes of Health [R01 ES021462]
- NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES [R01ES021462] Funding Source: NIH RePORTER
Understanding the pathogenesis of neurodevelopmental disorders has proven to be challenging. Using autism spectrum disorder (ASD) as a paradigmatic neurodevelopmental disorder, this article reviews the existing literature on the etiological substrates of ASD and explores how genetic epidemiology approaches including gene-environment interactions (GxE) can play a role in identifying factors associated with ASD etiology. New genetic and bioinformatics strategies have yielded important clues to ASD genetic substrates. The next steps for understanding ASD pathogenesis require significant effort to focus on how genes and environment interact with one another in typical development and its perturbations. Along with larger sample sizes, future study designs should include sample ascertainment that is epidemiologic and population-based to capture the entire ASD spectrum with both categorical and dimensional phenotypic characterization; environmental measurements with accuracy, validity, and biomarkers; statistical methods to address population stratification, multiple comparisons, and GxE of rare variants; animal models to test hypotheses; and new methods to broaden the capacity to search for GxE, including genome-wide and environment-wide association studies, precise estimation of heritability using dense genetic markers, and consideration of GxE both as the disease cause and a disease course modifier. Although examination of GxE appears to be a daunting task, tremendous recent progress in gene discovery has opened new horizons for advancing our understanding of the role of GxE in the pathogenesis of ASD and ultimately identifying the causes, treatments, and even preventive measures for ASD and other neurodevelopmental disorders.
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