Vitamin D Receptor Gene Polymorphisms and the Risk of Autism Spectrum Disorder (Asd): A Meta-Analysis Publisher



Fakourizad G ; Hatami A ; Aslani S ; Eslami MM ; Imani D ; Razi B ; Jamialahmadi T ; Kesharwani P ; Sahebkar A
Source: Human Gene Published:2026

Abstract

Several investigations have noted to the potential link between Vitamin D Receptor (VDR) gene polymorphisms and autism spectrum disorder (ASD); however, the findings have been controversial. To find a convincing answer, we performed this meta-analysis to identify a reliable understanding for plausible association of VDR gene SNPs and risk of ASD susceptibility. A systematic search was performed to search for relevant studies assessing the association between the Cdx (rs11568820), TaqI (rs731236), FokI (rs2228570), ApaI (rs7975232), and BsmI (rs1544410) SNPs of the VDR gene and susceptibility to ASD released before January 2024. Odd Ratio (OR) and 95 % CI were used to show statistical relationship between the VDR gene SNPs and ASD. In the final analysis 14 studies containing 2023 ASD patients and 2008 healthy individuals were included. The comprehensive analysis revealed that the TaqI variant across all genotypes, and the FokI variant in recessive, allelic, and homozygote genetic models, were associated with an increased risk of ASD. According to the findings of this meta-analysis, TaqI and FokI SNPs play a role in predisposition to ASD; however, because of limitation in sample size and geographical distribution of included studies, findings should be interpreted cautiously. © 2025 Elsevier B.V.