Halime Dana, Reyhan Tahtasakal, Murside Sahin, Seyda Nur Pirencioglu, Emre Tughan, Esra Demirci, Elif Funda Sener
Journal of Clinical Practice and Research - 2025;47(5):486-493
Objective: Autism spectrum disorders (ASD) are clinically heterogeneous conditions associated with cognitive impairments. Vitamin D (VD) deficiency has been proposed as a potential risk factor for neurodevelopmental disorders, including ASD. However, the roles of VD and vitamin D receptor (VDR) genes in ASD remain largely unexplored. Materials and Methods: We evaluated VDR gene expression levels in peripheral blood samples from 23 children with ASD and their mothers, as well as 26 age- and sex-matched controls and their mothers. Results: Reduced VDR gene expression was observed in both children with ASD and their mothers. Furthermore, VDR expression exhibited sex-specific differences, with male ASD patients showing significantly higher expression levels compared to female patients. Conclusion: Few studies have investigated maternal VDR expression in the context of ASD. Future research involving larger family-based cohorts is warranted to further elucidate the role of VDR in ASD and its potential relevance to neuropsychiatric conditions.
