{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T13:32:46Z","timestamp":1785418366258,"version":"3.56.0"},"reference-count":52,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,5,5]],"date-time":"2024-05-05T00:00:00Z","timestamp":1714867200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004410","name":"Scientific and Technological Research Council of Turkey","doi-asserted-by":"publisher","award":["120S827"],"award-info":[{"award-number":["120S827"]}],"id":[{"id":"10.13039\/501100004410","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>The 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\u201318 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\u2013tandem mass spectrometry. Significantly higher total cholesterol (p = 0.003), LDL (p = 0.008), and triglyceride (p &lt; 0.001) levels were observed in the ASD group. 27-Hydroxycholesterol levels were markedly lower in the ASD group (p \u2264 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 &gt; 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.<\/jats:p>","DOI":"10.3390\/children11050551","type":"journal-article","created":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T15:05:01Z","timestamp":1715007901000},"page":"551","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Investigation of Liver X Receptor Gene Variants and Oxysterol Dysregulation in Autism Spectrum Disorder"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5486-7377","authenticated-orcid":false,"given":"Tu\u011fba","family":"Mente\u015fe Babayi\u011fit","sequence":"first","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Aksaray University School of Medicine Training and Research Hospital, Aksaray 68100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6564-3133","authenticated-orcid":false,"given":"G\u00fcvem","family":"G\u00fcm\u00fc\u015f-Akay","sequence":"additional","affiliation":[{"name":"Department of Physiology, Ankara University School of Medicine, Ankara 06100, Turkey"},{"name":"Brain Research Center (AUBAUM), Ankara University, Ankara 06340, Turkey"},{"name":"Neuroscience and Neurotechnology Center of Excellence (N\u00d6ROM), Ankara University, Ankara 06560, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2381-5742","authenticated-orcid":false,"given":"Merve \u00c7ikili","family":"Uytun","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Ankara University School of Medicine, Ankara 06100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3078-999X","authenticated-orcid":false,"given":"\u00d6zlem","family":"Do\u011fan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Ankara University School of Medicine, Ankara 06100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3014-748X","authenticated-orcid":false,"given":"Muhittin A.","family":"Serdar","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Ac\u0131badem University School of Medicine, Ankara 06460, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4206-3766","authenticated-orcid":false,"given":"G\u00f6k\u00e7e Ya\u011fmur","family":"Efendi","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Kocaeli University School of Medicine, Kocaeli 41001, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4877-5302","authenticated-orcid":false,"given":"Ay\u015fe G\u00f6k\u00e7e","family":"Erman","sequence":"additional","affiliation":[{"name":"Department of Basic Biotechnology, Ankara University Institute of Biotechnology, Ankara 06135, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7051-5662","authenticated-orcid":false,"given":"Esra","family":"Y\u00fcr\u00fcmez","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Ankara University School of Medicine, Ankara 06100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3189-2112","authenticated-orcid":false,"given":"Didem Behice","family":"\u00d6ztop","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Ankara University School of Medicine, Ankara 06100, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss7202a1","article-title":"Prevalence and characteristics of autism spectrum disorder among children aged 8 years\u2014Autism and Developmental Disabilities Monitoring Network, 11 sites, United States, 2020","volume":"72","author":"Maenner","year":"2023","journal-title":"MMWR Surveill. 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