Increased vitamin D receptor gene expression and rs11568820 and rs4516035 promoter polymorphisms in autistic disorder

Molecular Biology Reports
Burhan BaltaMunis Dundar

Abstract

Although there are a large number of sequence variants of different genes and copy number variations at various loci identified in autistic disorder (AD) patients, the pathogenesis of AD has not been elucidated completely. Recently, in AD patients, a large number of expression array and transcriptome studies have shown an increase in the expression of genes especially related to innate immune response. Antimicrobial effects of vitamin D and VDR are exerted through Toll-Like-Receptors (TLR) which have an important role in the innate immune response, are expressed by antigen presenting cells and recognize foreign microorganisms. In this study, age and gender matched 30 patients diagnosed with AD and 30 healthy controls were included in the study. Comparatively whole blood VDR gene expression and rs11568820 and rs4516035 SNP profile of the promoter region of the VDR gene were investigated by real time PCR. Whole blood VDR gene expression was significantly higher in the AD group compared to control subjects (p < 0.0001). There were no significant differences among allele and genotype distribution of rs11568820 and rs4516035 polymorphisms between AD patients and controls. The increase of VDR gene expression in patients with AD may b...Continue Reading

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Citations

Apr 16, 2020·Current Pharmaceutical Design·Martina SiracusanoLuigi Mazzone
Jan 5, 2020·Journal of Molecular Neuroscience : MN·Hongchang Yang, Xueping Wu
Jun 15, 2021·Journal of Molecular Neuroscience : MN·Soudeh Ghafouri-FardMohammad Taheri

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Methods Mentioned

BETA
PCR
Genotyping

Software Mentioned

R

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