Association between rs731236 (Taq1), rs1544410 (BsmI), and rs2228570 (FokI) polymorphisms of vitamin D receptor gene with autism spectrum disorder

Autism Spectrum Disorders (ASD) is a developmental disease of the nervous system that affects an average of 1 in 150 children worldwide. Both genetic and environmental factors play a role in the development of this range of disorders. Several studies have shown an association between vitamin D receptor (VDR) gene polymorphisms and behavioral disorders associated with nervous system, including autism. In the present study, we aimed to investigate the association between VDR gene polymorphisms rs731236 (Taq1), rs1544410 (BsmI), rs2228570 (FokI) and the risk of autism. However, due to polymorphism diversities in population, we investigated the association between VDR rs731236 (Taq1)), rs1544410 (BsmI) (rs2228570 (FokI)) gene polymorphisms and the risk of autism in the population of East Azerbaijan.

In the present case control study, a total of 50 patients with ASD and 50 healthy control children were studied following the polymerase chain reaction on DNA extracted from peripheral blood and then enzymatic digestion with RFLP technique in terms of genotypic and allelic distribution studies using SPSS 16.

The results of statistical analysis of genotypic and allelic distribution for FokI and BMSI types of VDR gene did not show a significant difference between patients with autism and control group (p˃0.05). But Allelic and genotypic distribution of TT (p<0.045) and tt (p<0.013) genotypes between case and control groups showed a significant difference.

The results provide early evidence that genetic alterations in the VDR (TaqI) gene may alter children's susceptibility to ASD.