ArticleBiological psychiatry2016
Genetic Markers of Human Evolution Are Enriched in Schizophrenia.
Article in Biological psychiatry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 2 of them syntheses that pooled it.
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Who cites it
57 citing papers in PubMed, 2 syntheses or guidelines pooled it, 134 citations in OpenAlex.
- A Systematic Review of the Human Accelerated Regions in Schizophrenia and Related Disorders: Where the Evolutionary and Neurodevelopmental Hypotheses Converge.International journal of molecular sciences · 2023Pooled it
- Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.Nature genetics · 2018Pooled it
- Analysis of whole exome sequencing in severe mental illness hints at selection of brain development and immune related genes.Scientific reports · 2021Trial
- Expression patterns of risk genes associated with three evolutionarily relevant syndromes in rhesus macaque and human brains.Translational psychiatry · 2026Article
- Genomic approaches for understanding the evolution of the human brain.Nature neuroscience · 2026Review
- An evolutionary perspective on the genetics of anorexia nervosa.Translational psychiatry · 2025Article
- Understanding the Emergence of Schizophrenia in the Light of Human Evolution: New Perspectives in Genetics.Genes, brain, and behavior · 2025Review
- Adaptive introgression in modern human circadian rhythm genes.Npj biological timing and sleep · 2025Article
- How our brains are built: emerging approaches to understand human-specific features.Current opinion in genetics & development · 2024Review
- Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings.Molecular psychiatry · 2024Article
- Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.Cell genomics · 2024Article
- Asian-European differentiation of schizophrenia-associated genes driven by admixture and natural selection.iScience · 2024Article
- The burden of schizophrenia in the Middle East and North Africa region, 1990-2019.Scientific reports · 2024Article
- More than a decade of genetic research on the Denisovans.Nature reviews. Genetics · 2024Review
- Review
- Navigating the multiple dimensions of the creativity-mental disorder link: a Convergence Mental Health perspective.Discover mental health · 2023Review
- Human-specific evolutionary markers linked to foetal neurodevelopment modulate brain surface area in schizophrenia.Communications biology · 2023Article
- Recent natural selection conferred protection against schizophrenia by non-antagonistic pleiotropy.Scientific reports · 2023Article
- Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders.Human genetics · 2023Article
- Neandertal introgression partitions the genetic landscape of neuropsychiatric disorders and associated behavioral phenotypes.Translational psychiatry · 2022Article
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 4 countries.
Funding
Abstract
backgroundWhy schizophrenia has accompanied humans throughout our history despite its negative effect on fitness remains an evolutionary enigma. It is proposed that schizophrenia is a by-product of the complex evolution of the human brain and a compromise for humans' language, creative thinking, and cognitive abilities.
methodsWe analyzed recent large genome-wide association studies of schizophrenia and a range of other human phenotypes (anthropometric measures, cardiovascular disease risk factors, immune-mediated diseases) using a statistical framework that draws on polygenic architecture and ancillary information on genetic variants. We used information from the evolutionary proxy measure called the Neanderthal selective sweep (NSS) score.
resultsGene loci associated with schizophrenia are significantly (p = 7.30 × 10(-9)) more prevalent in genomic regions that are likely to have undergone recent positive selection in humans (i.e., with a low NSS score). Variants in brain-related genes with a low NSS score confer significantly higher susceptibility than variants in other brain-related genes. The enrichment is strongest for schizophrenia, but we cannot rule out enrichment for other phenotypes. The false discovery rate conditional on the evolutionary proxy points to 27 candidate schizophrenia susceptibility loci, 12 of which are associated with schizophrenia and other psychiatric disorders or linked to brain development.
conclusionsOur results suggest that there is a polygenic overlap between schizophrenia and NSS score, a marker of human evolution, which is in line with the hypothesis that the persistence of schizophrenia is related to the evolutionary process of becoming human.
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Registered trials
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.