ArticlePloS one2009
Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01197131 (Investigation of Urinary Steroid Metabolites in Children With Autism Spectrum Disorder), which is not on this map. Cited by 80 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Investigation of Urinary Steroid Metabolites in Children With Autism Spectrum Disorder
Who cites it
80 citing papers in PubMed, 3 syntheses or guidelines pooled it, 163 citations in OpenAlex.
- Hyperandrogenism? Increased 17, 20-Lyase Activity? A Metanalysis and Systematic Review of Altered Androgens in Boys and Girls with Autism.International journal of molecular sciences · 2021Pooled it
- Maternal polycystic ovarian syndrome in autism spectrum disorder: a systematic review and meta-analysis.Molecular psychiatry · 2019Pooled it
- Meta-Analysis of Gene Expression in Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2015Pooled it
- Neuroinflammation and autism: what have we learned so far?International journal of developmental disabilities · 2026Article
- Plasma membrane calcium ATPases and cerebellar pathology: what's the role in the ataxia?Biology direct · 2025Review
- Neuregulin 2 Is a Candidate Gene for Autism Spectrum Disorder.International journal of molecular sciences · 2024Article
- Giftedness and atypical sexual differentiation: enhanced perceptual functioning through estrogen deficiency instead of androgen excess.Frontiers in endocrinology · 2024Review
- Investigation of autism-related transcription factors underlying sex differences in the effects of bisphenol A on transcriptome profiles and synaptogenesis in the offspring hippocampus.Biology of sex differences · 2023Article
- Analysis of salivary steroid hormones in boys with autism spectrum disorder.BMC psychiatry · 2023Article
- Paediatric asthma and non-allergic comorbidities: A review of current risk and proposed mechanisms.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2022Review
- Androgens Tend to Be Higher, but What about Altered Progesterone Metabolites in Boys and Girls with Autism?Life (Basel, Switzerland) · 2022Article
- How Is CYP17A1 Activity Altered in Autism? A Pilot Study to Identify Potential Pharmacological Targets.Life (Basel, Switzerland) · 2022Article
- Sex Differences in Autism Spectrum Disorder: Diagnostic, Neurobiological, and Behavioral Features.Frontiers in psychiatry · 2022Review
- Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis.Biomedical engineering online · 2021Article
- MeCP2 duplication causes hyperandrogenism by upregulating LHCGR and downregulating RORα.Cell death & disease · 2021Article
- Maternal steroid levels and the autistic traits of the mother and infant.Molecular autism · 2021Article
- Article
- Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders.Frontiers in molecular neuroscience · 2021Review
- Alteration of the steroidogenesis in boys with autism spectrum disorders.Translational psychiatry · 2020Article
- Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder.Translational psychiatry · 2020Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Despite the identification of numerous autism susceptibility genes, the pathobiology of autism remains unknown. The present "case-control" study takes a global approach to understanding the molecular basis of autism spectrum disorders based upon large-scale gene expression profiling. DNA microarray analyses were conducted on lymphoblastoid cell lines from over 20 sib pairs in which one sibling had a diagnosis of autism and the other was not affected in order to identify biochemical and signaling pathways which are differentially regulated in cells from autistic and nonautistic siblings. Bioinformatics and gene ontological analyses of the data implicate genes which are involved in nervous system development, inflammation, and cytoskeletal organization, in addition to genes which may be relevant to gastrointestinal or other physiological symptoms often associated with autism. Moreover, the data further suggests that these processes may be modulated by cholesterol/steroid metabolism, especially at the level of androgenic hormones. Elevation of male hormones, in turn, has been suggested as a possible factor influencing susceptibility to autism, which affects approximately 4 times as many males as females. Preliminary metabolic profiling of steroid hormones in lymphoblastoid cell lines from several pairs of siblings reveals higher levels of testosterone in the autistic sibling, which is consistent with the increased expression of two genes involved in the steroidogenesis pathway. Global gene expression profiling of cultured cells from ASD probands thus serves as a window to underlying metabolic and signaling deficits that may be relevant to the pathobiology of autism.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.