ArticleMetabolic brain disease2017
Retinoic acid-related orphan receptor alpha (RORA) variants are associated with autism spectrum disorder.
Article in Metabolic brain disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 50 citations in OpenAlex.
- Retinoic acid in health and disease.Signal transduction and targeted therapy · 2026Review
- Circadian rhythm lncRNABiochemistry and biophysics reports · 2026Article
- Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Anti-asthma drug montelukast induces autistic behaviors via disrupting neuronal retinoic acid signaling.Signal transduction and targeted therapy · 2026Article
- Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways.Neurology international · 2025Review
- Association Between RORA Polymorphisms and Obesity.Biochemical genetics · 2025Article
- Autism spectrum disorder and the role of nuclear hormone receptors: insights and therapeutic implications.Frontiers in neuroscience · 2025Review
- TLX3 regulates CGN progenitor proliferation during cerebellum development and its dysfunction can lead to autism.iScience · 2024Article
- Unveiling the role of phytochemicals in autism spectrum disorder by employing network pharmacology and molecular dynamics simulation.Metabolic brain disease · 2024Article
- A single-cell multi-omic atlas spanning the adult rhesus macaque brain.Science advances · 2023Article
- WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice.Neuroscience bulletin · 2023Article
- Cerebellum and neurodevelopmental disorders: RORα is a unifying force.Frontiers in cellular neuroscience · 2023Article
- Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.Computational and structural biotechnology journal · 2023Article
- The trilateral interactions between mammalian target of rapamycin (mTOR) signaling, the circadian clock, and psychiatric disorders: an emerging model.Translational psychiatry · 2022Review
- The Cerebellar Involvement in Autism Spectrum Disorders: From the Social Brain to Mouse Models.International journal of molecular sciences · 2022Review
- Maternal diabetes-mediated RORA suppression contributes to gastrointestinal symptoms in autism-like mouse offspring.BMC neuroscience · 2022Article
- Maternal diabetes-mediated RORA suppression in mice contributes to autism-like offspring through inhibition of aromatase.Communications biology · 2022Article
- Prenatal Progestin Exposure-Mediated Oxytocin Suppression Contributes to Social Deficits in Mouse Offspring.Frontiers in endocrinology · 2022Article
- Autism Spectrum Disorder: Signaling Pathways and Prospective Therapeutic Targets.Cellular and molecular neurobiology · 2021Review
- Genetic and molecular biology of autism spectrum disorder among Middle East population: a review.Human genomics · 2021Review
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5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with various epidemiologic, genetic, epigenetic, and environmental factors being associated with it. The observed sex bias in ASD towards male has prompted investigators to propose sex-dependent mechanisms for ASD. Retinoic acid-related orphan receptor-alpha (RORA) is a new autism candidate gene that has been shown to be differentially regulated by male and female hormones. Previous studies have shown deregulation of its expression in the prefrontal cortex and the cerebellum of ASD patients. In the present study we aimed at identification of the possible associations between two functional polymorphisms in the RORA gene (rs11639084 and rs4774388) and the risk of ASD in 518 Iranian ASD patients and 472 age, gender, and ethnic-matched healthy controls by means of tetra primer-amplification refractory mutation system-PCR. The allele and genotype frequencies of rs11639084 were not significantly different between patients and controls. However, the allele frequencies of rs4774388 showed significant overrepresentation of T allele in patients compared with controls (P = 0.04, OR (95% CI) =1.21 (1.01-1.46)). The rs4774388-TT genotype was significantly higher in patients compared with controls and was associated with ASD risk in dominant inheritance model (P = 0.04, OR (95% CI) =0.77 (0.59-0.99)). Haplotype analysis showed significant association of two estimated blocks of rs11639084/ rs4774388 with ASD risk. Consequently, the present data provide further evidence for RORA participation in the pathogenesis of ASD.
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