Cieślińska Anna, Kostyra Elżbieta, Chwała Barbara, Moszyńska-Dumara Małgorzata, Fiedorowicz Ewa, Teodorowicz Małgorzata, Savelkoul Huub F J
Faculty of Biology and Biotechnology, University of Warmia and Mazury, 10-719 Olsztyn, Poland.
Regional Children's Hospital in Olsztyn, 10-719 Olsztyn, Poland.
Brain Sci. 2017 Sep 9;7(9):115. doi: 10.3390/brainsci7090115.
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.
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.
We uniquely found an association between the presence of the allele at position Taq-I and presence of the 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 allele. We found no statistical significant correlation between VDR single nucleotide polymorphisms (SNPs) and vitamin D₃ concentration in serum of ASD children.
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.
自闭症谱系障碍（ASD）是一组异质性的、行为学定义的疾病，目前所有受影响个体没有共同的生物学标志物。免疫反应失调可能在ASD的病因中起作用。维生素D₃的活性代谢产物通过与单核细胞、巨噬细胞和淋巴细胞中的维生素D受体（VDR）结合发挥免疫调节作用。维生素D的作用及其与VDR的相互作用可能受VDR基因多态性的影响。
研究了四种不同的VDR多态性（Apa-I、Bsm-I、Taq-I、Fok-I）与儿童自闭症易感性的遗传关联。
我们独特地发现VDR基因Taq-I位点的 等位基因和Apa-I位点的 等位基因同时存在与ASD发病率降低有关。女性性别与 等位基因的存在之间也存在关联。我们发现ASD儿童血清中VDR单核苷酸多态性（SNP）与维生素D₃浓度之间无统计学显著相关性。
VDR中两个SNP的基因多态性可能通过影响维生素D₃代谢功能与ASD症状的发展相关，而ASD儿童与非ASD儿童之间的维生素D₃水平无显著差异。
