ArticleMolecular biology reports2026
Investigation of WNT2, DISC1, and DOCK4 polymorphisms in a Turkish autism spectrum disorder cohort: a case-control and bioinformatics analysis.
Article in Molecular biology reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundAutism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors. The Wnt signaling pathway is a fundamental regulator of neural development, governing critical processes such as synapse formation and axonal guidance. Despite strong biological rationale, population-specific genetic data for Wnt-related candidate genes remain limited. This study investigated the association of WNT2 (rs4727847), DISC1 (rs4366301), and DOCK4 (rs2217262) polymorphisms with ASD in a Turkish population. METHODS AND
resultsA case-control study was conducted involving 100 children diagnosed with ASD according to DSM-5 criteria and 100 healthy controls. Genotyping was performed using Real-Time PCR with TaqMan® assays. The groups were comparable in age (p = 0.774) and sex distribution (p = 0.883). Functional relevance was evaluated using bioinformatics analyses, including protein-protein interaction and pathway enrichment analyses. No statistically significant differences were observed in genotype frequencies between ASD and control groups for WNT2 (p = 0.850), DISC1 (p = 0.457), or DOCK4 (p = 0.542). None of the observed associations remained statistically significant after false discovery rate correction. Bioinformatics analyses indicated that all investigated variants were non-coding and functionally connected within SFARI-curated autism-associated molecular networks. GO and KEGG analyses demonstrated enrichment of neurodevelopment-related pathways after false discovery rate correction (adjusted p < 0.05).
conclusionAlthough no statistically significant genetic associations were identified in the present cohort, the bioinformatics findings suggest that these loci remain biologically relevant within Wnt-related pathways. Future functional and transcriptomic studies are needed to clarify their contribution to ASD susceptibility.
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