ArticlePLoS genetics2017
Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- The involvement of the canonical Wnt-signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta-analysis.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Pooled it
- Analysis of whole exome sequencing in severe mental illness hints at selection of brain development and immune related genes.Scientific reports · 2021Trial
- The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism.Biological reviews of the Cambridge Philosophical Society · 2025Review
- Tracing human trait evolution through integrative genomics and temporal annotations.Cell genomics · 2025Article
- The trait-specific timing of accelerated genomic change in the human lineage.Cell genomics · 2025Article
- Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder.Frontiers in molecular neuroscience · 2025Article
- Theoretical-Methodological Foundations for the Global Integration Method (Método de Integração Global-MIG) in the Treatment of Autism Spectrum Disorder.Children (Basel, Switzerland) · 2024Review
- More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles.Frontiers in genetics · 2024Review
- Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.Frontiers in psychiatry · 2024Article
- How (and why) languages became more complex as we evolved more prosocial: the human self-domestication view.Frontiers in psychology · 2024Article
- Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.medRxiv : the preprint server for health sciences · 2023Article
- Recent natural selection conferred protection against schizophrenia by non-antagonistic pleiotropy.Scientific reports · 2023Article
- Autism and Religion.Children (Basel, Switzerland) · 2023Review
- Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders.Human genetics · 2023Article
- The promise of evolutionary psychiatry.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2023Article
- Machine Learning-Based Blood RNA Signature for Diagnosis of Autism Spectrum Disorder.International journal of molecular sciences · 2023Article
- Cognitive biases as an adaptive strategy in autism and schizophrenia spectrum: the compensation perspective on neurodiversity.Frontiers in psychiatry · 2023Review
- How Variation in Risk Allele Output and Gene Interactions Shape the Genetic Architecture of Schizophrenia.Genes · 2022Article
- Klerman's "credo" reconsidered: neo-Kraepelinianism, Spitzer's views, and what we can learn from the past.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2022Article
- Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.Frontiers in molecular neuroscience · 2022Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The human brain is the outcome of innumerable evolutionary processes; the systems genetics of psychiatric disorders could bear their signatures. On this basis, we analyzed five psychiatric disorders, attention deficit hyperactivity disorder, autism spectrum disorder (ASD), bipolar disorder, major depressive disorder, and schizophrenia (SCZ), using GWAS summary statistics from the Psychiatric Genomics Consortium. Machine learning-derived scores were used to investigate two natural-selection scenarios: complete selection (loci where a selected allele reached fixation) and incomplete selection (loci where a selected allele has not yet reached fixation). ASD GWAS results positively correlated with incomplete-selection (p = 3.53*10-4). Variants with ASD GWAS p<0.1 were shown to have a 19%-increased probability to be in the top-5% for incomplete-selection score (OR = 1.19, 95%CI = 1.11-1.8, p = 9.56*10-7). Investigating the effect directions of minor alleles, we observed an enrichment for positive associations in SNPs with ASD GWAS p<0.1 and top-5% incomplete-selection score (permutation p<10-4). Considering the set of these ASD-positive-associated variants, we observed gene-expression enrichments for brain and pituitary tissues (p = 2.3*10-5 and p = 3*10-5, respectively) and 53 gene ontology (GO) enrichments, such as nervous system development (GO:0007399, p = 7.57*10-12), synapse organization (GO:0050808, p = 8.29*10-7), and axon guidance (GO:0007411, p = 1.81*10-7). Previous genetic studies demonstrated that ASD positively correlates with childhood intelligence, college completion, and years of schooling. Accordingly, we hypothesize that certain ASD risk alleles were under positive selection during human evolution due to their involvement in neurogenesis and cognitive ability.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.