Genetic Associations in Schizophrenia Pathogenesis
Summary
Schizophrenia is a highly heritable and complex neuropsychiatric disorder arising from the interplay of numerous genetic variants and environmental factors. Contemporary studies reveal a polygenic architecture, in which hundreds of common single-nucleotide polymorphisms each confer a small increment of risk, while rare structural variants such as copy number variations can have larger effect sizes. Genome-wide association studies have mapped risk loci to genes implicated in synaptic function, immune response and neurodevelopment, highlighting pathways of dopaminergic and glutamatergic signalling, myelination and calcium channel regulation. The integration of polygenic risk scores into epidemiological research has begun to stratify individuals according to genetic liability, offering potential for early intervention and tailored treatment. Functional genomics and transcriptomic profiling in patient-derived tissues and cellular models are elucidating how risk variants perturb gene expression and neuronal connectivity. Despite this progress, translation into clinical practice remains in its infancy, and challenges such as population diversity, gene–environment interactions and the mechanistic interpretation of non-coding variation must be addressed. Continued refinement of analytical methods, combined with collaborative biobank efforts and multi-omic integration, is essential to advance genetic discoveries towards improved diagnosis, prognosis and personalised therapeutic strategies.
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Genetic Associations in Schizophrenia Pathogenesis publication trend
The graph below shows the total number of articles in genetic associations in schizophrenia pathogenesis across all publications each year (not limited to Nature Index journals).
Technical terms
Single-nucleotide polymorphism (SNP): A variation at a single DNA base position among individuals that may modulate disease risk.
Copy number variation (CNV): A structural genetic alteration involving duplication or deletion of DNA segments, potentially affecting gene dosage.
Genome-wide association study (GWAS): A hypothesis-free approach scanning millions of variants across the genome to identify loci linked to a trait.
Polygenic risk score (PRS): A cumulative measure of genetic liability calculated by summing risk allele effects across many loci.
Epistasis: The phenomenon in which the effect of one gene variant is modified by the presence of variants at other loci.
References
- Association of dopamine receptor D2 -141C insertion/deletion and dopamine beta-hydroxylase 19 bp insertion/deletion polymorphisms with schizophrenia: A case-control study in the eastern Algerian population. Archives of Biological Sciences (2024).
- Dopaminergic Epistases in Schizophrenia. Brain Sciences (2024).
- The role of C957T, TaqI and Ser311Cys polymorphisms of the DRD2 gene in schizophrenia: systematic review and meta-analysis. Behavioral and Brain Functions (2016).
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