All for one and one for all: heterogeneity of genetic etiologies in neurodevelopmental psychiatric disorders
| Autor: | Christa Lese Martin, Daniel Moreno-De-Luca |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Bipolar Disorder Biology Article 03 medical and health sciences 0302 clinical medicine Clinical heterogeneity Genetics medicine Humans Genetic Predisposition to Disease Bipolar disorder Psychiatry Genetic Association Studies 030304 developmental biology 0303 health sciences Large effect size Genetic Variation medicine.disease Schizophrenia Autism spectrum disorder Neurodevelopmental Disorders Clinical diagnosis Etiology Genomic architecture 030217 neurology & neurosurgery Developmental Biology Genome-Wide Association Study |
| Zdroj: | Curr Opin Genet Dev |
| ISSN: | 1879-0380 |
| Popis: | Alexandre Dumas' famous phrase All for One and One for All recapitulates our current understanding of the genomic architecture of neurodevelopmental psychiatric disorders (NPD), like autism Spectrum disorder, bipolar disorder, and schizophrenia. Many rare genomic variants of large effect size have been identified; all of them together can explain a significant proportion of NPD. In parallel, one rare genomic variant can cause all of the above NPD. Finally, common genomic variants of individually small effect size can be combined to further explain risk for NPD. How do we reconcile different genomic variants accounting for one clinical diagnosis, and different clinical diagnoses arising from a single genomic variant? Here, we discuss a framework to understand genetic and clinical heterogeneity in NPD. |
| Databáze: | OpenAIRE |
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