Association between vitamin D receptor gene FokI and TaqI variants with autism spectrum disorder predisposition in Iranian population

Mobasheri, Leila; Moossavi, Seyedeh Zahra; Esmaeili, Aliakbar; Mohammadoo‐Khorasani, Milad; Sarab, Gholamreza Anani

doi:10.1016/j.gene.2019.144133

Cited by 8 publications

(3 citation statements)

References 28 publications

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“…The sample size of the study was large ( n = 1,152), but the subjects were typically developing adolescents aged 12–17 years, who were much older than our participants. Since vitamin D in children with ASD might have different metabolic statuses ( 6 ) and related metabolic gene polymorphisms ( 34 , 35 ) compared with typically developing children, the associations among screen time, sedentary behavior, outdoor activity time and vitamin D deserve further discussion.…”

Section: Discussionmentioning

confidence: 99%

Screen Time, Age and Sunshine Duration Rather Than Outdoor Activity Time Are Related to Nutritional Vitamin D Status in Children With ASD

et al. 2022

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Objective: This study aimed to investigate the possible association among vitamin D, screen time and other factors that might affect the concentration of vitamin D in children with autism spectrum disorder (ASD).Methods: In total, 306 children with ASD were recruited, and data, including their age, sex, height, weight, screen time, time of outdoor activity, ASD symptoms [including Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS) and Autism Diagnostic Observation Schedule–Second Edition (ADOS-2)] and vitamin D concentrations, were collected. A multiple linear regression model was used to analyze the factors related to the vitamin D concentration.Results: A multiple linear regression analysis showed that screen time (β = −0.122, P = 0.032), age (β = −0.233, P < 0.001), and blood collection month (reflecting sunshine duration) (β = 0.177, P = 0.004) were statistically significant. The vitamin D concentration in the children with ASD was negatively correlated with screen time and age and positively correlated with sunshine duration.Conclusion: The vitamin D levels in children with ASD are related to electronic screen time, age and sunshine duration. Since age and season are uncontrollable, identifying the length of screen time in children with ASD could provide a basis for the clinical management of their vitamin D nutritional status.

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Section: Discussionmentioning

confidence: 99%

Screen Time, Age and Sunshine Duration Rather Than Outdoor Activity Time Are Related to Nutritional Vitamin D Status in Children With ASD

et al. 2022

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“…VDR SIngle Nucleotide Polymorphisms (SNPs) have also been suggested to associate with a variety of neuropsychiatric disorders [Lee et al, 2014;Jiang et al, 2015;Yan et al, 2005] including ASD. Different VDR SNPs were shown to be not univocally associated with ASD development and/or protection [Biswas et al, 2018;Cie sli nska et al, 2017;Cos¸kun et al, 2016;Mobasheri et al, 2020;Zhang et al, 2018].…”

Section: Introductionmentioning

confidence: 98%

“…Reasonable grounds for such inconsistencies might be based on heterogeneous ethnicity and/or limited samplesize studies [Mobasheri et al, 2020;Zhang et al, 2018]. This led us to design a study in which the possible association between VDR SNPs and ASD could be verified in a larger and genetically well-defined population.…”

Section: Introductionmentioning

confidence: 99%

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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