Next Article in Journal
Risk Factors for Mild Cognitive Impairment (MCI)
Next Article in Special Issue
Neural Hyperexcitability in Autism Spectrum Disorders
Previous Article in Journal
Time-Frequency Analysis of Mu Rhythm Activity during Picture and Video Action Naming Tasks
Previous Article in Special Issue
Assessing Sensory Processing Dysfunction in Adults and Adolescents with Autism Spectrum Disorder: A Scoping Review
Open AccessArticle

Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism

Faculty of Biology and Biotechnology, University of Warmia and Mazury, 10-719 Olsztyn, Poland
Regional Children’s Hospital in Olsztyn, 10-719 Olsztyn, Poland
Center for Diagnosis, Treatment and Therapy of Autism at the Regional Children’s Hospital in Olsztyn, 10-719 Olsztyn, Poland
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
Brain Sci. 2017, 7(9), 115;
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)
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
Show Figures

Figure 1

MDPI and ACS Style

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.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Back to TopTop