ArticleMolecular autism2011
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
Article in Molecular autism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Genetic risk factors for autism-spectrum disorders: a systematic review based on systematic reviews and meta-analysis.Journal of neural transmission (Vienna, Austria : 1996) · 2021Pooled it
- Modeling rare coding variation on chromosome X provides insight into the genetics and differential sex prevalence of autism spectrum disorder.medRxiv : the preprint server for health sciences · 2026Article
- Chromosome X-wide common variant association study in autism spectrum disorder.American journal of human genetics · 2025Article
- X chromosome-wide association studies in neurological disorders: uncovering the hidden influence of the X chromosome.Frontiers in genetics · 2025Review
- FANS Unfixed: Isolation and Proteomic Analysis of Mouse Cell Type-Specific Brain Nuclei.Journal of proteome research · 2024Article
- Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder.medRxiv : the preprint server for health sciences · 2024Article
- The genetics of autism and steroid-related traits in prenatal and postnatal life.Frontiers in endocrinology · 2023Article
- BEXCIS: Bayesian methods for estimating the degree of the skewness of X chromosome inactivation.BMC bioinformatics · 2022Article
- What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.Journal of clinical medicine · 2021Article
- The Role of Thyroid Hormone in the Regulation of Cerebellar Development.Endocrinology and metabolism (Seoul, Korea) · 2021Article
- A statistical measure for the skewness of X chromosome inactivation for quantitative traits and its application to the MCTFR data.BMC genomic data · 2021Article
- Review
- Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation ofJournal of the Endocrine Society · 2019Article
- The Wnt Signaling Pathway and Related Therapeutic Drugs in Autism Spectrum Disorder.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2018Review
- Rett syndrome: a neurological disorder with metabolic components.Open biology · 2018Review
- Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children.European journal of human genetics : EJHG · 2017Article
- From sexless to sexy: Why it is time for human genetics to consider and report analyses of sex.Biology of sex differences · 2017Article
- Mutations in TBL1X Are Associated With Central Hypothyroidism.The Journal of clinical endocrinology and metabolism · 2016Observational
- Histone deacetylase 3 associates with MeCP2 to regulate FOXO and social behavior.Nature neuroscience · 2016Article
- The dystrophin gene and cognitive function in the general population.European journal of human genetics : EJHG · 2015Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic component. The skewed prevalence toward males and evidence suggestive of linkage to the X chromosome in some studies suggest the presence of X-linked susceptibility genes in people with ASD.
methodsWe analyzed genome-wide association study (GWAS) data on the X chromosome in three independent autism GWAS data sets: two family data sets and one case-control data set. We performed meta- and joint analyses on the combined family and case-control data sets. In addition to the meta- and joint analyses, we performed replication analysis by using the two family data sets as a discovery data set and the case-control data set as a validation data set.
resultsOne SNP, rs17321050, in the transducin β-like 1X-linked (TBL1X) gene [OMIM:300196] showed chromosome-wide significance in the meta-analysis (P value = 4.86 × 10-6) and joint analysis (P value = 4.53 × 10-6) in males. The SNP was also close to the replication threshold of 0.0025 in the discovery data set (P = 5.89 × 10-3) and passed the replication threshold in the validation data set (P = 2.56 × 10-4). Two other SNPs in the same gene in linkage disequilibrium with rs17321050 also showed significance close to the chromosome-wide threshold in the meta-analysis.
conclusionsTBL1X is in the Wnt signaling pathway, which has previously been implicated as having a role in autism. Deletions in the Xp22.2 to Xp22.3 region containing TBL1X and surrounding genes are associated with several genetic syndromes that include intellectual disability and autistic features. Our results, based on meta-analysis, joint analysis and replication analysis, suggest that TBL1X may play a role in ASD risk.
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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.