Genetics of Psychiatric Disorders: Advances in Genetic Epidemiology and Molecular Genetics

Merikangas, Kathleen R.; Karayiorgou, Maria

doi:10.1002/9781118753378.ch16

Cited by 4 publications

(1 citation statement)

References 187 publications

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“…When shared/non-shared environment data are available, twin studies can provide inferences about specific GxE (119). Discordant MZ twin, adoption and half-sibling studies can identify environmental factors and GxE (120). Nested case-control studies offer advantages by minimizing selection and recall biases, however, they are not optimal for rare diseases, and selection bias can occur from low participation rates (119).…”

Section: Genetic Epidemiology In Asdmentioning

confidence: 99%

Genetic Epidemiology and Insights into Interactive Genetic and Environmental Effects in Autism Spectrum Disorders

Kim¹,

Leventhal²

2015

Biological Psychiatry

191

130

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Understanding the pathogenesis of Neurodevelopmental Disorders (NDDs) has proven to be challenging. Using Autism Spectrum Disorder (ASD) as a paradigmatic NDD, this paper reviews the existing literature on the etiologic substrates of ASD and explores how genetic epidemiology approaches including gene-environment interactions (GxE) can play roles in identifying factors associated with ASD etiology. New genetic and bioinformatics strategies have yielded important clues to ASD genetic substrates. 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 measurement 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. While examination of GxE appears to be a daunting task, tremendous recent progress in gene discovery opens new horizons for advancing our understanding the role of GxE in the pathogenesis of, and ultimately identifying the causes, treatments and even prevention for ASD and other NDDs.

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Section: Genetic Epidemiology In Asdmentioning

confidence: 99%