ArticleTranslational psychiatry2020
Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect.
Article in Translational psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05811507 (Evaluation of Serum Adrenal Androgens Among Prepubertal and Pubertal Boys With Autism Spectrum Disorder), which is not on this map. Cited by 96 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Evaluation of Serum Adrenal Androgens Among Prepubertal and Pubertal Boys With Autism Spectrum Disorder
Who cites it
96 citing papers in PubMed, 4 syntheses or guidelines pooled it, 177 citations in OpenAlex.
- Social functioning in autism: a systematic review and meta-analysis.Nature human behaviour · 2026Pooled it
- Psychological disorders and their influence on the development of periodontal disease in adolescents. A systematic review.Medicina oral, patologia oral y cirugia bucal · 2026Pooled it
- Does the Extreme Male Brain Hypothesis of Autism Apply More to Females Than Males? A Systematic and Meta-Analytic Approach.Autism research : official journal of the International Society for Autism Research · 2026Pooled it
- Sex-dependent vulnerability to early-life phthalates exposure and autism spectrum disorders: a systematic review.Frontiers in child and adolescent psychiatry · 2026Pooled it
- HPSC-derived mesenchymal stromal cells ameliorate murine autistic-like phenotypes through activating oxytocinergic neurons.Science advances · 2026Article
- Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences.Molecular psychiatry · 2026Article
- Sex differences in 5-year incidence and prevalence of physical illnesses following early childhood autism diagnosis.JCPP advances · 2026Article
- Article
- Parental gut microbiota dysbiosis is associated with cross-generationally shared DNA methylation patterns and autism-like behaviors in offspring.NPJ biofilms and microbiomes · 2026Article
- Sex Differences in Spatiotemporal Consistency and Effective Connectivity of the Precuneus in Autism Spectrum Disorder.Journal of autism and developmental disorders · 2026Article
- The inactive X chromosome as a female protector in autism and beyond.Nature genetics · 2026Review
- Host genetic variation and gut microbiome in pediatric diseases.Chinese medical journal · 2026Review
- Advancing understanding of the mechanisms of autism spectrum disorder through perinatal risk factors.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Prenatal exposure to extreme heat and autism in children.The Science of the total environment · 2026Article
- Global burden of autism spectrum disorders among population aged 70 years and older from 1990-2021, with projections to 2040: findings from the Global Burden of Disease Study 2021.Molecular psychiatry · 2026Article
- Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.Nucleic acids research · 2026Article
- An Exploratory Pilot Study of Brain Functional Connectivity and Heart Rate Variability in Male Children With Autism Spectrum Disorder.Journal of the Korean Academy of Child and Adolescent Psychiatry · 2026Article
- Intergenerational neuroimaging's present and future: Considering sex as a biological variable to enhance knowledge of brain development through parent-offspring similarity.Developmental cognitive neuroscience · 2025Review
- Article
- Lacticaseibacillus rhamnosus GR-1 prevents autism-like behaviors by reshaping the maternal and offspring microbiome.NPJ biofilms and microbiomes · 2025Article
36 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
12 authors at 4 institutions in 1 country.
Funding
Abstract
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a male-to-female prevalence of 4:1. However, the genetic mechanisms underlying this gender difference remain unclear. Mutation burden analysis, a TADA model, and co-expression and functional network analyses were performed on de novo mutations (DNMs) and corresponding candidate genes. We found that the prevalence of putative functional DNMs (loss-of-function and predicted deleterious missense mutations) in females was significantly higher than that in males, suggesting that a higher genetic load was required in females to reach the threshold for a diagnosis. We then prioritized 174 candidate genes, including 60 shared genes, 91 male-specific genes, and 23 female-specific genes. All of the three subclasses of candidate genes were significantly more frequently co-expressed in female brains than male brains, suggesting that compensation effects of the deficiency of ASD candidate genes may be more likely in females. Nevertheless, the three subclasses of candidate genes were co-expressed with each other, suggesting a convergent functional network of male and female-specific genes. Our analysis of different aspects of genetic components provides suggestive evidence supporting the female-protective effect in ASD. Moreover, further study is needed to integrate neuronal and hormonal data to elucidate the underlying gender difference in ASD.
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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.