GWAS studies and their associations with neurological disorders.
| GWAS and its associations with epilepsy. | ||||
|---|---|---|---|---|
| Study | Type of study | SNPs and loci identified | Associated genes and immunological pathways | Main implications |
| International League Against Epilepsy Consortium on Complex Epilepsies, 2023 [106] | Meta-analysis | 26 Risk loci | CACNA2D2, SCN1A, and GABRA2 | Synaptic transmission, the balance between excitatory and inhibitory neurons |
| Jacobs et al., 2025 [120] | Systematic review | 79 SNPs associated with 64 genes | BRAP, SCN1A, and ALDH2 | Neuroinflammation and ion channel regulation |
| Malekpour et al., 2023 [129] | Literature review | 90 SNPs associated | APOE, IL1B, TNF, and SCN2A | Immune modulation and neuroinflammation |
| Zhang et al., 2024 [121] | Systematic review | 1,506 associated genes | APC2, SCN1A, BCOR, and STXBP1 | Neurodevelopment, vesicle transport, and ion channels |
| Thakran et al., 2025 [123] | Literature review | 30 SNPs in 7 loci | DCHS2, DGKG, CNKSR3, SLC5A10, CTBP2, and RNU1-35P | Cell adhesion and transcription regulation |
| Kim et al., 2025 [122] | Cohort | PROX1 | PROX1 | Neural maturation and transcriptional regulation |
| GWAS and their association with SCZ. | ||||
| Study | Type of study | SNPs and loci identified | Associated genes and immunological pathways | Main implications |
| Nikolova et al., 2021 [19] | Systematic review | None | Immune/barrier pathways | Microbiota influences SCZ immune biology |
| Gong et al., 2023 [45] | Cross-trait GWAS + MR | Shared SNPs | MHC, IL23R, TNF genes | Shared immune genetic etiology |
| Wang et al., 2024 [127] | Cross-trait GWAS + MR | Shared loci | IL23R, STAT3, TNFSF15 | Bidirectional IBD-SCZ links |
| Uellendahl-Werth et al., 2022 [130] | TWAS | TWAS loci | PTPN22, ATG16L1, HLA-DQA1 | Shared gut-brain transcriptional genes |
| Xie et al., 2024 [20] | Integrated GWAS | Multiple shared loci | Immune + dopaminergic genes | Broad polygenic overlap GI-SCZ |
| Owen et al., 2023 [126] | Cross-trait GWAS + MR | None highlighted | Inflammatory/neuromodulatory genes | IBS shares genetic architecture with SCZ |
| Qian et al., 2022 [131] | MR study | Existing SNP instruments | MHC, IL23/Th17 genes | Causal IBD-SCZ pathways |
| Trubetskoy et al., 2022 [128] | Large GWAS | > 270 loci | GRIN2A, DRD2, MHC genes | Defines SCZ polygenic architecture |
| GWAS and their association with ASD. | ||||
| Study | Type of study | SNPs and loci identified | Associated genes and immunological pathways | Main implications |
| Zhou et al., 2025 [132] | Narrative review (GWAS + MR) | Overlapping loci | Immune/metabolic genes | Shared microbiome-genetic |
| Hetta et al., 2025 [115] | Narrative review | Indirect | Barrier/immune genes | Genetic modulation of GBA |
| Malekpour et al., 2025 [133] | MR study | Microbiota SNPs | Microbial/immune genes | Bidirectional microbiota-ASD causality |
| Chen et al., 2022 [36] | MR study | Microbiota SNPs | Immune genes | Causal microbial effects on ASD |
| Chen et al., 2025 [134] | Cohort study | Metabolite SNPs | Metabolic genes | GI metabolites linked to ASD |
We describe GWAS studies related to epilepsy, SCZ, and ASD, where we describe the type of study, the SNPs and loci identified, and the associated genes and their pathophysiological involvement with the GBA. SNPs: single nucleotide polymorphisms; MR: mendelian randomization, GWAS: genome wide association studies; ASD: autism spectrum disorder; IBD-SCZ: inflammatory bowel disease-schizophrenia.
ECLL: Investigation, Writing—original draft, Writing—review & editing, Validation, Supervision. RMP: Investigation, Writing—original draft, Writing—review & editing. GCH: Conceptualization, Investigation, Writing—original draft, Writing—review & editing, Visualization. MFBG: Conceptualization, Investigation, Writing—original draft. AMV: Conceptualization, Investigation, Writing—original draft. XAVT: Conceptualization, Investigation, Writing—original draft. ESA: Conceptualization, Investigation, Writing—original draft, Writing—review & editing. EJGA: Conceptualization, Investigation, Writing—original draft, Writing—review & editing. PCMP: Conceptualization, Writing—original draft, Writing—review & editing. DDLV: Investigation, Writing—original draft. LMG: Investigation, Writing—original draft. IVAA: Writing—review & editing, Validation. FES: Conceptualization, Investigation, Writing—original draft, Writing—review & editing. All authors read and approved the submitted version.
The authors declare that they have no conflicts of interest.
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This paper represents independent research supported by Universidad Anáhuac México. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
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