ArticleEuropean journal of human genetics : EJHG2011
Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 58 citations in OpenAlex.
- Neuronal cell adhesion genes and antidepressant response in three independent samples.The pharmacogenomics journal · 2015Trial
- Itgb3 expression is developmentally regulated in pyramidal neurons of mouse cortex and hippocampus.Neuroscience letters · 2026Article
- Shared Genetic Determinants of Schizophrenia and Autism Spectrum Disorder Implicate Opposite Risk Patterns: A Genome-Wide Analysis of Common Variants.Schizophrenia bulletin · 2024Article
- A Systematic Review on Autism and Hyperserotonemia: State-of-the-Art, Limitations, and Future Directions.Brain sciences · 2024Review
- Integrin β3 in forebrain Emx1-expressing cells regulates repetitive self-grooming and sociability in mice.BMC neuroscience · 2022Article
- Can Autism Be Diagnosed with Artificial Intelligence? A Narrative Review.Diagnostics (Basel, Switzerland) · 2021Review
- Integrin β3 organizes dendritic complexity of cerebral cortical pyramidal neurons along a tangential gradient.Molecular brain · 2020Article
- Gene expression profile analysis of ileum transcriptomes in pigs fed Gelsemium elegans plants.Scientific reports · 2019Article
- Blood platelet research in autism spectrum disorders: In search of biomarkers.Research and practice in thrombosis and haemostasis · 2019Review
- p38α MAPK signaling drives pharmacologically reversible brain and gastrointestinal phenotypes in the SERT Ala56 mouse.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- Integrin β3 Haploinsufficiency Modulates Serotonin Transport and Antidepressant-Sensitive Behavior in Mice.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2015Article
- The role of cerebellar circuitry alterations in the pathophysiology of autism spectrum disorders.Frontiers in neuroscience · 2015Review
- Neuroanatomical Assessment of the Integrin β3 Mouse Model Related to Autism and the Serotonin System Using High Resolution MRI.Frontiers in psychiatry · 2012Article
- Autism risk assessment in siblings of affected children using sex-specific genetic scores.Molecular autism · 2011Article
- Music genetics research: Association with musicality of a polymorphism in the AVPR1A gene.Genetics and molecular biologyArticle
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Authors and funding
18 authors at 11 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The integrin-β 3 gene (ITGB3), located on human chromosome 17q21.3, was previously identified as a quantitative trait locus (QTL) for 5-HT blood levels and has been implicated as a candidate gene for autism spectrum disorder (ASD). We performed a family-based association study in 281 simplex and 12 multiplex Caucasian families. ITGB3 haplotypes are significantly associated with autism (HBAT, global P=0.038). Haplotype H3 is largely over-transmitted to the affected offspring and doubles the risk of an ASD diagnosis (HBAT P=0.005; odds ratio (OR)=2.000), at the expense of haplotype H1, which is under-transmitted (HBAT P=0.018; OR=0.725). These two common haplotypes differ only at rs12603582 located in intron 11, which reaches a P-value of 0.072 in single-marker FBAT analyses. Interestingly, rs12603582 is strongly associated with pre-term delivery in our ASD patients (P=0.008). On the other hand, it is SNP rs2317385, located at the 5' end of the gene, that significantly affects 5-HT blood levels (Mann-Whitney U-test, P=0.001; multiple regression analysis, P=0.010). No gene-gene interaction between ITGB3 and SLC6A4 has been detected. In conclusion, we identify a significant association between a common ITGB3 haplotype and ASD. Distinct markers, located toward the 5' and 3' ends of the gene, seemingly modulate 5-HT blood levels and autism liability, respectively. Our results also raise interest into ITGB3 influences on feto-maternal immune interactions in autism.
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