Investigation of Liver X Receptor Gene Variants and Oxysterol Dysregulation in Autism Spectrum Disorder †

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dc.authorid0000-0003-3189-2112
dc.authorid0000-0002-7051-5662
dc.authorid0000-0002-4877-5302
dc.authorid0000-0003-4206-3766
dc.authorid0000-0002-3014-748X
dc.authorid0000-0003-3078-999X
dc.authorid0000-0002-2381-5742
dc.authorid0000-0002-6564-3133
dc.authorid0000-0002-5486-7377
dc.contributor.authorMenteşe Babayiğit, Tuğba
dc.contributor.authorGümüş Akay, Güvem
dc.contributor.authorUytun, Merve Çikili
dc.contributor.authorDoğan, Özlem
dc.contributor.authorSerdar, Muhittin A.
dc.contributor.authorEfendi, Gökçe Yağmur
dc.contributor.authorErman, Ayşe Gökçe
dc.contributor.authorYürümez, Esra
dc.contributor.authorÖztop, Didem Behice
dc.date.accessioned2024-07-03T08:40:58Z
dc.date.available2024-07-03T08:40:58Z
dc.date.issued2024
dc.departmentTıp Fakültesi
dc.description.abstractThe NR1H2 gene produces the Liver X Receptor Beta (LXRB) protein, which is crucial for brain cholesterol metabolism and neuronal development. However, its involvement in autism spectrum disorder (ASD) remains largely unexplored, aside from animal studies. This study is the first to explore the potential link between autism and rs2695121/rs17373080 single nucleotide polymorphisms (SNPs) in the regulatory regions of NR1H2, known for their association with neuropsychiatric functions. Additionally, we assessed levels of oxysterols (24-Hydroxycholesterol, 25-Hydroxycholesterol, 27-Hydroxycholesterol), crucial ligands of LXR, and lipid profiles. Our cohort comprised 107 children with ASD and 103 healthy children aged 2–18 years. Clinical assessment tools included the Childhood Autism Rating Scale, Autistic Behavior Checklist, and Repetitive Behavior Scale-Revised. Genotyping for SNPs was conducted using PCR-RFLP. Lipid profiles were analyzed with Beckman Coulter kits, while oxysterol levels were determined through liquid chromatography–tandem mass spectrometry. Significantly higher total cholesterol (p = 0.003), LDL (p = 0.008), and triglyceride (p < 0.001) levels were observed in the ASD group. 27-Hydroxycholesterol levels were markedly lower in the ASD group (p ? 0.001). ROC analysis indicated the potential of 27-Hydroxycholesterol to discriminate ASD diagnosis. The SNP genotype and allele frequencies were similar in both groups (p > 0.05). Our findings suggest that disturbances in oxysterol metabolism, previously linked to neurodegeneration, may constitute a risk factor for ASD and contribute to its heterogeneous phenotype.
dc.identifier.doi10.3390/children11050551
dc.identifier.issn2227-9067
dc.identifier.issue5en_US
dc.identifier.scopusqualityQ2
dc.identifier.urihttps:/dx.doi.org/10.3390/children11050551
dc.identifier.urihttps://hdl.handle.net/20.500.12451/12029
dc.identifier.volume11en_US
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)
dc.relation.ispartofChildren
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAutism Spectrum Disorder
dc.subjectCholesterol
dc.subjectLiver X Receptor
dc.subjectNR1H2
dc.subjectOxysterol
dc.subjectSingle Nucleotide Polymorphism
dc.titleInvestigation of Liver X Receptor Gene Variants and Oxysterol Dysregulation in Autism Spectrum Disorder †
dc.typeArticle

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