Genetic Influences on Cognitive Function in Neuropsychiatric Disorders
Summary
Cognitive deficits are a core feature of many neuropsychiatric disorders, including schizophrenia, attention-deficit/hyperactivity disorder and mood disorders. A substantial heritable component underpins individual differences in domains such as working memory, attention, processing speed and executive control. Early candidate-gene studies highlighted functional polymorphisms in dopaminergic and serotonergic systems, notably in COMT, DRD2, MAOA and 5HTTLPR, as modulators of prefrontal dopamine availability and related cognitive phenotypes. More recent approaches have embraced genome-wide association studies (GWAS) and polygenic risk scores to capture the cumulative effect of thousands of common variants of small effect. These polygenic models reveal overlapping genetic influences across diagnostic boundaries and link cognitive performance to liability for neuropsychiatric conditions. In parallel, rare copy-number variants and single-gene mutations have been associated with profound cognitive impairments and elevated risk for developmental disorders. Epigenetic modifications, including DNA methylation and histone acetylation, further mediate gene–environment interplay throughout development and in response to stress. Together, these lines of evidence converge on core neural circuits, particularly frontostriatal and frontoparietal networks, as substrates through which genetic variation shapes cognitive function and dysfunction. Translation of these insights into practice is under way, with the prospect of genetically informed stratification in clinical trials and the identification of novel targets for cognitive enhancement across disorders.
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Genetic Influences on Cognitive Function in Neuropsychiatric Disorders publication trend
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Technical terms
Polymorphism: A variation in DNA sequence at a specific locus that may influence gene function or regulation.
Executive function: Higher-order cognitive processes including working memory, inhibitory control and cognitive flexibility.
Gene–environment interaction: A phenomenon whereby genetic effects on a trait are modified by environmental exposures, or vice versa.
Genome-wide association study (GWAS): An unbiased approach scanning the genome for common variants associated with a trait or disorder.
References
- The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress. Brain and Behavior (2017).
- Maternal deprivation induces alterations in cognitive and cortical function in adulthood. Translational Psychiatry (2018).
- Cognitive effects of genetic variation in monoamine neurotransmitter systems: A population‐based study of COMT, MAOA, and 5HTTLPR. American Journal of Medical Genetics Part B Neuropsychiatric Genetics (2010).
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