Fok-I, Bsm-I, and Taq-I Variants of Vitamin D Receptor Polymorphism in the Development of Autism Spectrum Disorder: A Literature Review.

Sharmi Biswas,Bushra Kanwal,Robert S Seminara,Charan Jeet

doi:10.7759/cureus.3228

Abstract

The role of vitamin D in the development of autism spectrum disorder (ASD) is of intensified interest in medical science in recent years. Vitamin D has a significant role in neurogenesis, neuroprotection, and neurodevelopment. Due to the close association of vitamin D with the brain, it has been found that in the pathophysiology of several neuropsychiatric disorders vitamin D receptor (VDR) polymorphism plays a significant role. In this review article, we looked for a relation between VDR polymorphism and ASD. We systemically reviewed all the potential articles on the relation between VDR polymorphism and ASD. We found that several VDR variants FokI, BsmI, and TaqI polymorphisms are related to ASD. Even paternal VDR polymorphism can be a causative factor for ASD in the offspring. The relation between FokI (ff) genotype polymorphism and increased level of serum 1,25(OH)D3 in ASD patients is a very significant finding. Variation of ASD-related genotypes in different ethnic population raises a big question on whether the environmental factors also can do changes in human genotypes leading to ASD.

Highlights

BackgroundAutism spectrum disorder (ASD) defines a broad range of conditions portrayed by compromised social skills, repetitive behaviors, and deficits of speech and nonverbal communication
We discussed the association of vitamin D receptor (VDR) changes with autism spectrum disorder (ASD)
Evidence compiled from animal and human studies showed that vitamin D plays an essential role in developing fetal brain and any abnormality of vitamin D metabolism in preconception or during pregnancy can affect the fetal neurodevelopmental outcome

Summary

Introduction

Autism spectrum disorder (ASD) defines a broad range of conditions portrayed by compromised social skills, repetitive behaviors, and deficits of speech and nonverbal communication. Vitamin D influences the developing brain by its several endocrine functions via regulating extracellular calcium, inflammationmediated cytokines, and glucocorticoids By regulating these crucial factors in the fetal brain, vitamin D expresses its significant role in neurogenesis, neurodifferentiation, and neuroprotection since the initiation of a life [24]. Studies showed that 1,25(OH)2D3 can increase TH and VDR expression in TH positive neurons of the substantia nigra in both human and rat fetal brain. The VDR polymorphism can play a role in the development of ASD by influencing the action pathway of vitamin D [36,37,38,39,40]. The UTR region controls the VDR mRNA stability and posttranscriptional process which support the role of TaqI polymorphism in alteration of protein structure and vitamin D binding specificity [37, 39, 42]. . there are a few data available for VDR polymorphism’s relation with ASD

Conclusions

Disclosures

Vahia VN

11. Cannell JJ