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Identification of common genetic risk variants for autism spectrum disorder

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  1. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

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  2. Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes

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  3. The genetic evolution of metastatic uveal melanoma

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  4. A catalog of genetic loci associated with kidney function from analyses of a million individuals

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  1. Socio-demographic and clinical risk factors of treatment-resistant depression: A Danish population-based cohort study

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  2. Widespread higher fractional anisotropy associates to better cognitive functions in individuals at ultra-high risk for psychosis

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  3. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

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  4. Clinical association to FKBP5 rs1360780 in patients with depression

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  5. A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population

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  • Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium
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Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.

Original languageEnglish
JournalNature Genetics
Volume51
Issue number3
Pages (from-to)431-444
Number of pages14
ISSN1061-4036
DOIs
Publication statusPublished - 2019

    Research areas

  • Adolescent, Autism Spectrum Disorder/genetics, Case-Control Studies, Child, Child, Preschool, Denmark, Female, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study/methods, Humans, Male, Multifactorial Inheritance/genetics, Phenotype, Polymorphism, Single Nucleotide/genetics, Risk Factors

ID: 56746315