Association of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder

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dc.contributor.authorCoskun, Salih
dc.contributor.authorSimsek, Seref
dc.contributor.authorCamkurt, Mehmet Akif
dc.contributor.authorCim, Abdullah
dc.contributor.authorCelik, Sercan Bulut
dc.date.accessioned2024-04-24T16:14:51Z
dc.date.available2024-04-24T16:14:51Z
dc.date.issued2016
dc.departmentDicle Üniversitesien_US
dc.description.abstractVitamin D is implicated in several aspects of human physiology, and polymorphisms in the vitamin D receptor gene (VDR) are associated with a variety of neuropsychiatric disorders. The aims of this study are to determine whether VDR polymorphisms are associated with autism spectrum disorder (ASD), to examine serum 25-hydroxyvitamin D (25(OH)D) levels in ASD, and to explore whether VDR polymorphisms influence serum 25(OH)D levels. We investigated 480 subjects (237 children with ASD and 243 healthy controls) for the following VDR polymorphisms: TaqI, BsmI, FokI, ApaI, and Cdx2. Within the same samples, 25(OH)D levels were available only for 85 patients and 82 controls. The Cdx-2 variation was shown to deviate from Hardy-Weinberg equilibrium in the controls and was therefore excluded from the study. We found that the frequency of rare FokI TT, TaqI CC, and BsmI AA genotypes differed significantly between children with ASD and the controls (p = 0.042, p = 0.016, p = 0.038, respectively). After correction for multiple testing, only the TaqI CC genotype remained significant. Further analysis using a recessive model showed that rare genotypes of these polymorphisms were significantly higher in patients compared to controls (p = 0.045, p = 0.005 and p = 0.031, respectively). However, no significant association was found between ApaI and ASD. We found serum 25(OH)D levels to be significantly higher in children with ASD (p < 0.001) and that the FokI polymorphism had an effect on serum 25(OH)D levels in children with ASD (p = 0.041). Additionally, we found the haplotype GTTT (BsmI/TaqI/FokI/ApaI) conferred an increased risk for developing ASD (p = 0.022; odds ratio [95% confidence interval] = 2.322 [1.105-4.879]). This is the first clinical study evaluating the association between serum 25(OH)D levels and VDR polymorphisms in children with ASD. Our results demonstrated a significant association between TaqI, BsmI, and FokI polymorphisms and ASD and showed for the first time that FokI polymorphisms and haplotype GTTT (BsmI/TaqI/FokI/ApaI) are associated with an increased risk of ASD. Our findings support the hypothesis that 25(OH)D is involved in the pathophysiology of autism and that serum 25(OH)D levels may be affected by FokI polymorphisms in children with ASD. Our results should be considered as preliminary and needs confirmation by future studies. (C) 2016 Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.gene.2016.05.004
dc.identifier.endpage114en_US
dc.identifier.issn0378-1119
dc.identifier.issn1879-0038
dc.identifier.issue2en_US
dc.identifier.pmid27155524
dc.identifier.scopus2-s2.0-84969242824
dc.identifier.scopusqualityQ2
dc.identifier.startpage109en_US
dc.identifier.urihttps://doi.org/10.1016/j.gene.2016.05.004
dc.identifier.urihttps://hdl.handle.net/11468/15444
dc.identifier.volume588en_US
dc.identifier.wosWOS:000378467600002
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherElsevier Science Bven_US
dc.relation.ispartofGene
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAutismen_US
dc.subjectVdr Polymorphismsen_US
dc.subject25(Oh)Den_US
dc.subjectVitamin D Receptoren_US
dc.subjectAutism Spectrum Disorderen_US
dc.subject25-Hydroxyvitamin Den_US
dc.titleAssociation of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorderen_US
dc.titleAssociation of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder
dc.typeArticleen_US

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