Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder

Zhang, Zengyu; Li, Sufang; Yu, Lei; Liu, Jun

doi:10.1155/2018/7862892

Cited by 22 publications

(14 citation statements)

References 36 publications

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“…The BsmI and Apa I polymorphisms located in intron 8 and TaqI are close to the 3'UTR region of the exon-9. The UTR region controls the VDR mRNA stability and post-transcriptional process which support the role of TaqI polymorphism in alteration of protein structure and vitamin D binding specificity [ 37 , 39 , 42 ].…”

Section: Reviewmentioning

confidence: 97%

“…The VDR is a member of the neurosteroid family which signifies the role of VDR as a candidate gene for ASD [ 36 - 38 ]. Studies showed the association of several single nucleotide polymorphisms (SNPs) of VDR genes with ASD but the SNPs could be variable for different population [ 39 ]. Three haplotypes of VDR is associated with ASD which are GTTT, GTCT, ATCG.…”

Section: Reviewmentioning

confidence: 99%

“…In ASD the more common haplotypes found was GTTT while ATCG and GTCT were found of lower frequencies in ASD patients [ 37 ]. Animal studies done on mice with knocked out VDR gene showed impairment of their behavior [ 35 - 37 ] as well as in hearing [ 38 - 39 ]. The most common promoter region of VDR which is related to multiple diseases is rs15568820 and rs4516035.…”

Section: Reviewmentioning

confidence: 99%

“…There were few studies which founded an association between VDR gene polymorphisms and serum 25(OH)D level. The responsible alleles for ASD are interestingly associated with increased levels of serum 25(OH)D while some studies showed that lower serum levels of 25(OH)D increase the risk of ASD [ 39 ]. Coşkun et al showed in his study the connection between FokI TT(ff), TaqI CC(tt), BsmI AA(BB) genotypes and ASD [ 37 ].…”

Section: Reviewmentioning

confidence: 99%

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Fok-I, Bsm-I, and Taq-I Variants of Vitamin D Receptor Polymorphism in the Development of Autism Spectrum Disorder: A Literature Review

Biswas

Kanwal

Jeet

et al. 2018

Cureus

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The role of vitamin D in the development of autism spectrum disorder (ASD) is of intensified interest in medical science in recent years. Vitamin D has a significant role in neurogenesis, neuroprotection, and neurodevelopment. Due to the close association of vitamin D with the brain, it has been found that in the pathophysiology of several neuropsychiatric disorders vitamin D receptor (VDR) polymorphism plays a significant role. In this review article, we looked for a relation between VDR polymorphism and ASD. We systemically reviewed all the potential articles on the relation between VDR polymorphism and ASD. We found that several VDR variants FokI, BsmI, and TaqI polymorphisms are related to ASD. Even paternal VDR polymorphism can be a causative factor for ASD in the offspring. The relation between FokI (ff) genotype polymorphism and increased level of serum 1,25(OH)D3 in ASD patients is a very significant finding. Variation of ASD-related genotypes in different ethnic population raises a big question on whether the environmental factors also can do changes in human genotypes leading to ASD.

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Section: Reviewmentioning

confidence: 97%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

See 2 more Smart Citations

Fok-I, Bsm-I, and Taq-I Variants of Vitamin D Receptor Polymorphism in the Development of Autism Spectrum Disorder: A Literature Review

Biswas

Kanwal

Jeet

et al. 2018

Cureus

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“…While exposure to some factors (eg. outdoor air pollution) may be difficult to control, changes in nutrients intake are easier to implement, and are particularly important for ASD-subjects carrying known specific variants in genes like DHFR [125], MTHFR [126] and VDR [127].…”

Section: Gene-environment Interactions In Asdmentioning

confidence: 99%

Exposure to Xenobiotics and Gene-Environment Interactions in Autism Spectrum Disorder: A Systematic Review

Santos¹,

Rasga²,

Vicente³

2021

Autism Spectrum Disorder - Profile, Heterogeneity, Neurobiology and Intervention

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Heritability estimates indicate that genetic susceptibility does not fully explain Autism Spectrum Disorder (ASD) risk variance, and that environmental factors may play a role in this disease. To explore the impact of the environment in ASD etiology, we performed a systematic review of the literature on xenobiotics implicated in the disease, and their interactions with gene variants. We compiled 72 studies reporting associations between ASD and xenobiotic exposure, including air pollutants, persistent and non-persistent organic pollutants, heavy metals, pesticides, pharmaceutical drugs and nutrients. Additionally, 9 studies reported that interactions between some of these chemicals (eg. NO2, particulate matter, manganese, folic acid and vitamin D) and genetic risk factors (eg. variants in the CYP2R1, GSTM1, GSTP1, MET, MTHFR and VDR genes) modulate ASD risk. The chemicals highlighted in this review induce neuropathological mechanisms previously implicated in ASD, including oxidative stress and hypoxia, dysregulation of signaling pathways and endocrine disruption. Exposure to xenobiotics may be harmful during critical windows of neurodevelopment, particularly for individuals with variants in genes involved in xenobiotic metabolization or in widespread signaling pathways. We emphasize the importance of leveraging multilevel data collections and integrative approaches grounded on artificial intelligence to address gene–environment interactions and understand ASD etiology, towards prevention and treatment strategies.

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Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder

Guerini

Bolognesi

Chiappedi³

et al. 2020

Autism Research

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Vitamin D is endowed with a number of biological properties, including down-regulation of inflammation, and might contribute to the pathogenesis of autism spectrum disorders (ASD). Vitamin D binds to the vitamin D Receptor (VDR); the biological activity of the ensuing complex depends on VDR FokI, BsmI, ApaI, and TaqI gene polymorphisms. We evaluated such Single Nucletoide Polymorphismsm (SNPs) in a cohort of 100 Italian families with ASD children. FokI genotype distribution was skewed in ASD children compared with their healthy sibs (P c = 0.03 2 df ) and to a group of 170 Italian healthy women (HC) (P c = 0.04 2 df ). FokI genotype and allelic distribution skewing were also observed in mothers of ASD children compared to HC (P c = 0.04 2 df ). Both Transmission Disequilibrium Test for single loci and haplotype analysis distribution revealed a major FokI (C) allele-mediated protective effect, which was more frequently transmitted (73%) than not transmitted to healthy sibs (P = 0.02). A protective FokI-, BsmI-, ApaI-, and TaqI (CCAG) haplotype was more frequently carried by healthy sibs than by ASD children (P = 1 × 10 −4 ; OR: 0.1, 95% CI: 0.03-0.4) too. Finally, a strong gene-dose association of FokI (T) allele with both higher Childhood Autism Rating Scale score (P c = 0.01) and, particularly, with hyperactivity behavior (P c = 0.006) emerged in ASD children. Because the protein produced by the FokI (T) allele is transcriptionally less active than that produced by the FokI (C) allele, the reduced biological activity of the vitamin D/VDR complex prevalent in ASD could favor ASD-and maternal immune activation-associated inflammation. Vitamin D supplementation might be useful in preventative and rehabilitation protocols for ASD.

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Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder

Cited by 22 publications

References 36 publications

Fok-I, Bsm-I, and Taq-I Variants of Vitamin D Receptor Polymorphism in the Development of Autism Spectrum Disorder: A Literature Review

Fok-I, Bsm-I, and Taq-I Variants of Vitamin D Receptor Polymorphism in the Development of Autism Spectrum Disorder: A Literature Review

Exposure to Xenobiotics and Gene-Environment Interactions in Autism Spectrum Disorder: A Systematic Review

Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder

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