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Brain Sci. 2017, 7(9), 115; doi:10.3390/brainsci7090115

Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism

1
Faculty of Biology and Biotechnology, University of Warmia and Mazury, 10-719 Olsztyn, Poland
2
Regional Children’s Hospital in Olsztyn, 10-719 Olsztyn, Poland
3
Center for Diagnosis, Treatment and Therapy of Autism at the Regional Children’s Hospital in Olsztyn, 10-719 Olsztyn, Poland
4
Cell Biology and Immunology Group, Wageningen University& Research, P.O. Box 338, 6700 AH Wageningen, The Netherlands
*
Author to whom correspondence should be addressed.
Academic Editor: Pushpal Desarkar
Received: 15 August 2017 / Revised: 2 September 2017 / Accepted: 6 September 2017 / Published: 9 September 2017
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)
View Full-Text   |   Download PDF [493 KB, uploaded 9 September 2017]   |  

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. View Full-Text
Keywords: autism; vitamin D3; receptor; SNP analysis; polymorphism autism; vitamin D3; receptor; SNP analysis; polymorphism
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Cieślińska, A.; Kostyra, E.; Chwała, B.; Moszyńska-Dumara, M.; Fiedorowicz, E.; Teodorowicz, M.; Savelkoul, H.F. Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism. Brain Sci. 2017, 7, 115.

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