Abstract
Background: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D3 has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene. Methods: Genetic association of four different VDR polymorphisms (Apa-I, Bsm-I, Taq-I, Fok-I) associated with susceptibility to the development of autism in children was investigated. Results: We uniquely found an association between the presence of the T allele at position Taq-I and presence of the a allele at position Apa-I of the VDR gene with decreased ASD incidence. There was also an association between female gender and the presence of the T allele. We found no statistical significant correlation between VDR single nucleotide polymorphisms (SNPs) and vitamin D3 concentration in serum of ASD children. Conclusion: Genetic polymorphism in two SNP in VDR may be correlated with development of ASD symptoms by influencing functionality of vitamin D3 metabolism, while vitamin D3 levels were not significantly different between ASD and non-ASD children.
Highlights
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by abnormalities in social interactions, communication skills and restrictive or repetitive behaviors [1]
The observed genotype frequencies of Fok-I, Bsm-I, Taq-I, and Apa-I polymorphisms in vitamin D receptor (VDR) in 196 of controls and 108 patients with Autism spectrum disorder (ASD) conformed to the Hardy-Weinberg equilibrium
Nowotny et al [49] showed that single nucleotide polymorphisms (SNPs) allelic association methods are powerful tools in the identification of genetic factors that predispose to most common diseases
Summary
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by abnormalities in social interactions, communication skills and restrictive or repetitive behaviors [1]. Susceptibility to development of ASD has a profound genetic heritability and many genes and proteins have been implicated as causes of autism, but their individual contribution is still poorly understood. VDR polymorphisms (Apa-I, Bsm-I, Taq-I, Fok-I) associated with susceptibility to the development of autism in children was investigated. Results: We uniquely found an association between the presence of the T allele at position Taq-I and presence of the a allele at position Apa-I of the VDR gene with decreased ASD incidence. We found no statistical significant correlation between VDR single nucleotide polymorphisms (SNPs) and vitamin D3 concentration in serum of ASD children. Conclusion: Genetic polymorphism in two SNP in VDR may be correlated with development of ASD symptoms by influencing functionality of vitamin D3 metabolism, while vitamin D3 levels were not significantly different between ASD and non-ASD children
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