VDR Gene Expression Changes in Autism Spectrum Disorders: What is the Role of Maternal Effect?

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.

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.

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.

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.