Association of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder
العنوان: | Association of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder |
---|---|
المؤلفون: | Abdullah Çim, Sercan Bulut Çelik, Şeref Şimşek, Salih Coşkun, Mehmet Akif Camkurt |
المصدر: | Gene. 588:109-114 |
بيانات النشر: | Elsevier BV, 2016. |
سنة النشر: | 2016 |
مصطلحات موضوعية: | Male, Risk, 0301 basic medicine, medicine.medical_specialty, Adolescent, TaqI, Autism Spectrum Disorder, Gene Expression, Genome-wide association study, Calcitriol receptor, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Odds Ratio, Genetics, Vitamin D and neurology, medicine, Humans, Genetic Predisposition to Disease, Vitamin D, Allele, Child, Alleles, Polymorphism, Genetic, Models, Genetic, biology, Haplotype, Case-control study, DNA Restriction Enzymes, General Medicine, Prognosis, FokI, 030104 developmental biology, Endocrinology, Haplotypes, chemistry, Case-Control Studies, Child, Preschool, biology.protein, Receptors, Calcitriol, Female, 030217 neurology & neurosurgery, Genome-Wide Association Study |
الوصف: | Vitamin 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 (p0.001) 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. |
تدمد: | 0378-1119 |
DOI: | 10.1016/j.gene.2016.05.004 |
URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::251ea04d93dadaebbed28e81fff03902 https://doi.org/10.1016/j.gene.2016.05.004 |
Rights: | CLOSED |
رقم الانضمام: | edsair.doi.dedup.....251ea04d93dadaebbed28e81fff03902 |
قاعدة البيانات: | OpenAIRE |
ResultId |
1 |
---|---|
Header |
edsair OpenAIRE edsair.doi.dedup.....251ea04d93dadaebbed28e81fff03902 822 3 unknown 821.869812011719 |
PLink |
https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&scope=site&db=edsair&AN=edsair.doi.dedup.....251ea04d93dadaebbed28e81fff03902&custid=s6537998&authtype=sso |
FullText |
Array
(
[Availability] => 0
)
Array ( [0] => Array ( [Url] => https://explore.openaire.eu/search/publication?articleId=doi_dedup___::251ea04d93dadaebbed28e81fff03902# [Name] => EDS - OpenAIRE [Category] => fullText [Text] => View record in OpenAIRE [MouseOverText] => View record in OpenAIRE ) ) |
Items |
Array
(
[Name] => Title
[Label] => Title
[Group] => Ti
[Data] => Association of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder
)
Array ( [Name] => Author [Label] => Authors [Group] => Au [Data] => <searchLink fieldCode="AR" term="%22Abdullah+Çim%22">Abdullah Çim</searchLink><br /><searchLink fieldCode="AR" term="%22Sercan+Bulut+Çelik%22">Sercan Bulut Çelik</searchLink><br /><searchLink fieldCode="AR" term="%22Şeref+Şimşek%22">Şeref Şimşek</searchLink><br /><searchLink fieldCode="AR" term="%22Salih+Coşkun%22">Salih Coşkun</searchLink><br /><searchLink fieldCode="AR" term="%22Mehmet+Akif+Camkurt%22">Mehmet Akif Camkurt</searchLink> ) Array ( [Name] => TitleSource [Label] => Source [Group] => Src [Data] => <i>Gene</i>. 588:109-114 ) Array ( [Name] => Publisher [Label] => Publisher Information [Group] => PubInfo [Data] => Elsevier BV, 2016. ) Array ( [Name] => DatePubCY [Label] => Publication Year [Group] => Date [Data] => 2016 ) Array ( [Name] => Subject [Label] => Subject Terms [Group] => Su [Data] => <searchLink fieldCode="DE" term="%22Male%22">Male</searchLink><br /><searchLink fieldCode="DE" term="%22Risk%22">Risk</searchLink><br /><searchLink fieldCode="DE" term="%220301+basic+medicine%22">0301 basic medicine</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%2Emedical%5Fspecialty%22">medicine.medical_specialty</searchLink><br /><searchLink fieldCode="DE" term="%22Adolescent%22">Adolescent</searchLink><br /><searchLink fieldCode="DE" term="%22TaqI%22">TaqI</searchLink><br /><searchLink fieldCode="DE" term="%22Autism+Spectrum+Disorder%22">Autism Spectrum Disorder</searchLink><br /><searchLink fieldCode="DE" term="%22Gene+Expression%22">Gene Expression</searchLink><br /><searchLink fieldCode="DE" term="%22Genome-wide+association+study%22">Genome-wide association study</searchLink><br /><searchLink fieldCode="DE" term="%22Calcitriol+receptor%22">Calcitriol receptor</searchLink><br /><searchLink fieldCode="DE" term="%2203+medical+and+health+sciences%22">03 medical and health sciences</searchLink><br /><searchLink fieldCode="DE" term="%22chemistry%2Echemical%5Fcompound%22">chemistry.chemical_compound</searchLink><br /><searchLink fieldCode="DE" term="%220302+clinical+medicine%22">0302 clinical medicine</searchLink><br /><searchLink fieldCode="DE" term="%22Internal+medicine%22">Internal medicine</searchLink><br /><searchLink fieldCode="DE" term="%22Odds+Ratio%22">Odds Ratio</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Vitamin+D+and+neurology%22">Vitamin D and neurology</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%22">medicine</searchLink><br /><searchLink fieldCode="DE" term="%22Humans%22">Humans</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+Predisposition+to+Disease%22">Genetic Predisposition to Disease</searchLink><br /><searchLink fieldCode="DE" term="%22Vitamin+D%22">Vitamin D</searchLink><br /><searchLink fieldCode="DE" term="%22Allele%22">Allele</searchLink><br /><searchLink fieldCode="DE" term="%22Child%22">Child</searchLink><br /><searchLink fieldCode="DE" term="%22Alleles%22">Alleles</searchLink><br /><searchLink fieldCode="DE" term="%22Polymorphism%2C+Genetic%22">Polymorphism, Genetic</searchLink><br /><searchLink fieldCode="DE" term="%22Models%2C+Genetic%22">Models, Genetic</searchLink><br /><searchLink fieldCode="DE" term="%22biology%22">biology</searchLink><br /><searchLink fieldCode="DE" term="%22Haplotype%22">Haplotype</searchLink><br /><searchLink fieldCode="DE" term="%22Case-control+study%22">Case-control study</searchLink><br /><searchLink fieldCode="DE" term="%22DNA+Restriction+Enzymes%22">DNA Restriction Enzymes</searchLink><br /><searchLink fieldCode="DE" term="%22General+Medicine%22">General Medicine</searchLink><br /><searchLink fieldCode="DE" term="%22Prognosis%22">Prognosis</searchLink><br /><searchLink fieldCode="DE" term="%22FokI%22">FokI</searchLink><br /><searchLink fieldCode="DE" term="%22030104+developmental+biology%22">030104 developmental biology</searchLink><br /><searchLink fieldCode="DE" term="%22Endocrinology%22">Endocrinology</searchLink><br /><searchLink fieldCode="DE" term="%22Haplotypes%22">Haplotypes</searchLink><br /><searchLink fieldCode="DE" term="%22chemistry%22">chemistry</searchLink><br /><searchLink fieldCode="DE" term="%22Case-Control+Studies%22">Case-Control Studies</searchLink><br /><searchLink fieldCode="DE" term="%22Child%2C+Preschool%22">Child, Preschool</searchLink><br /><searchLink fieldCode="DE" term="%22biology%2Eprotein%22">biology.protein</searchLink><br /><searchLink fieldCode="DE" term="%22Receptors%2C+Calcitriol%22">Receptors, Calcitriol</searchLink><br /><searchLink fieldCode="DE" term="%22Female%22">Female</searchLink><br /><searchLink fieldCode="DE" term="%22030217+neurology+%26+neurosurgery%22">030217 neurology & neurosurgery</searchLink><br /><searchLink fieldCode="DE" term="%22Genome-Wide+Association+Study%22">Genome-Wide Association Study</searchLink> ) Array ( [Name] => Abstract [Label] => Description [Group] => Ab [Data] => Vitamin 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 (p0.001) 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. ) Array ( [Name] => ISSN [Label] => ISSN [Group] => ISSN [Data] => 0378-1119 ) Array ( [Name] => DOI [Label] => DOI [Group] => ID [Data] => 10.1016/j.gene.2016.05.004 ) Array ( [Name] => URL [Label] => Access URL [Group] => URL [Data] => <link linkTarget="URL" linkTerm="https://explore.openaire.eu/search/publication?articleId=doi_dedup___::251ea04d93dadaebbed28e81fff03902" linkWindow="_blank">https://explore.openaire.eu/search/publication?articleId=doi_dedup___::251ea04d93dadaebbed28e81fff03902</link><br /><link linkTarget="URL" linkTerm="https://doi.org/10.1016/j.gene.2016.05.004" linkWindow="_blank">https://doi.org/10.1016/j.gene.2016.05.004</link> ) Array ( [Name] => Copyright [Label] => Rights [Group] => Cpyrght [Data] => CLOSED ) Array ( [Name] => AN [Label] => Accession Number [Group] => ID [Data] => edsair.doi.dedup.....251ea04d93dadaebbed28e81fff03902 ) |
RecordInfo |
Array
(
[BibEntity] => Array
(
[Identifiers] => Array
(
[0] => Array
(
[Type] => doi
[Value] => 10.1016/j.gene.2016.05.004
)
)
[Languages] => Array
(
[0] => Array
(
[Text] => Undetermined
)
)
[PhysicalDescription] => Array
(
[Pagination] => Array
(
[PageCount] => 6
[StartPage] => 109
)
)
[Subjects] => Array
(
[0] => Array
(
[SubjectFull] => Male
[Type] => general
)
[1] => Array
(
[SubjectFull] => Risk
[Type] => general
)
[2] => Array
(
[SubjectFull] => 0301 basic medicine
[Type] => general
)
[3] => Array
(
[SubjectFull] => medicine.medical_specialty
[Type] => general
)
[4] => Array
(
[SubjectFull] => Adolescent
[Type] => general
)
[5] => Array
(
[SubjectFull] => TaqI
[Type] => general
)
[6] => Array
(
[SubjectFull] => Autism Spectrum Disorder
[Type] => general
)
[7] => Array
(
[SubjectFull] => Gene Expression
[Type] => general
)
[8] => Array
(
[SubjectFull] => Genome-wide association study
[Type] => general
)
[9] => Array
(
[SubjectFull] => Calcitriol receptor
[Type] => general
)
[10] => Array
(
[SubjectFull] => 03 medical and health sciences
[Type] => general
)
[11] => Array
(
[SubjectFull] => chemistry.chemical_compound
[Type] => general
)
[12] => Array
(
[SubjectFull] => 0302 clinical medicine
[Type] => general
)
[13] => Array
(
[SubjectFull] => Internal medicine
[Type] => general
)
[14] => Array
(
[SubjectFull] => Odds Ratio
[Type] => general
)
[15] => Array
(
[SubjectFull] => Genetics
[Type] => general
)
[16] => Array
(
[SubjectFull] => Vitamin D and neurology
[Type] => general
)
[17] => Array
(
[SubjectFull] => medicine
[Type] => general
)
[18] => Array
(
[SubjectFull] => Humans
[Type] => general
)
[19] => Array
(
[SubjectFull] => Genetic Predisposition to Disease
[Type] => general
)
[20] => Array
(
[SubjectFull] => Vitamin D
[Type] => general
)
[21] => Array
(
[SubjectFull] => Allele
[Type] => general
)
[22] => Array
(
[SubjectFull] => Child
[Type] => general
)
[23] => Array
(
[SubjectFull] => Alleles
[Type] => general
)
[24] => Array
(
[SubjectFull] => Polymorphism, Genetic
[Type] => general
)
[25] => Array
(
[SubjectFull] => Models, Genetic
[Type] => general
)
[26] => Array
(
[SubjectFull] => biology
[Type] => general
)
[27] => Array
(
[SubjectFull] => Haplotype
[Type] => general
)
[28] => Array
(
[SubjectFull] => Case-control study
[Type] => general
)
[29] => Array
(
[SubjectFull] => DNA Restriction Enzymes
[Type] => general
)
[30] => Array
(
[SubjectFull] => General Medicine
[Type] => general
)
[31] => Array
(
[SubjectFull] => Prognosis
[Type] => general
)
[32] => Array
(
[SubjectFull] => FokI
[Type] => general
)
[33] => Array
(
[SubjectFull] => 030104 developmental biology
[Type] => general
)
[34] => Array
(
[SubjectFull] => Endocrinology
[Type] => general
)
[35] => Array
(
[SubjectFull] => Haplotypes
[Type] => general
)
[36] => Array
(
[SubjectFull] => chemistry
[Type] => general
)
[37] => Array
(
[SubjectFull] => Case-Control Studies
[Type] => general
)
[38] => Array
(
[SubjectFull] => Child, Preschool
[Type] => general
)
[39] => Array
(
[SubjectFull] => biology.protein
[Type] => general
)
[40] => Array
(
[SubjectFull] => Receptors, Calcitriol
[Type] => general
)
[41] => Array
(
[SubjectFull] => Female
[Type] => general
)
[42] => Array
(
[SubjectFull] => 030217 neurology & neurosurgery
[Type] => general
)
[43] => Array
(
[SubjectFull] => Genome-Wide Association Study
[Type] => general
)
)
[Titles] => Array
(
[0] => Array
(
[TitleFull] => Association of polymorphisms in the vitamin D receptor gene and serum 25-hydroxyvitamin D levels in children with autism spectrum disorder
[Type] => main
)
)
)
[BibRelationships] => Array
(
[HasContributorRelationships] => Array
(
[0] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Abdullah Çim
)
)
)
[1] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Sercan Bulut Çelik
)
)
)
[2] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Şeref Şimşek
)
)
)
[3] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Salih Coşkun
)
)
)
[4] => Array
(
[PersonEntity] => Array
(
[Name] => Array
(
[NameFull] => Mehmet Akif Camkurt
)
)
)
)
[IsPartOfRelationships] => Array
(
[0] => Array
(
[BibEntity] => Array
(
[Dates] => Array
(
[0] => Array
(
[D] => 01
[M] => 08
[Type] => published
[Y] => 2016
)
)
[Identifiers] => Array
(
[0] => Array
(
[Type] => issn-print
[Value] => 03781119
)
[1] => Array
(
[Type] => issn-locals
[Value] => edsair
)
)
[Numbering] => Array
(
[0] => Array
(
[Type] => volume
[Value] => 588
)
)
[Titles] => Array
(
[0] => Array
(
[TitleFull] => Gene
[Type] => main
)
)
)
)
)
)
)
|
IllustrationInfo |