ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.370 GeneticVariation disease BEFREE Our results support rs55827077 as the functional ITGB3 gene promoter variant contributing to elevated 5-HT blood levels in ASD and define a mechanistic chain of events linking ITGB3 to hyperserotonemia. 30535103 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.370 GeneticVariation disease BEFREE Our studies identify a complex regulation of 5-HT homeostasis and behaviors by integrin αvβ3, revealing an important role for integrins in modulating risk for neuropsychiatric disorders.<b>SIGNIFICANCE STATEMENT</b> The integrin β3 Leu33Pro coding polymorphism has been associated with autism spectrum disorders (ASDs) within a subgroup of patients with elevated blood 5-HT levels, linking integrin β3, 5-HT, and ASD risk. 29038237 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.370 GeneticVariation disease BEFREE In this review, we selected NRXNs/NLGNs, CNTNAP2/CNTNAP4, CNTN4, ITGB3, and KIRREL3 as strong ASD risk genes based on SFARI score and summarize the protein structures, functions at synapses, representative discoveries in human genetic studies, and phenotypes of the mutant model mice in light of the pathophysiology of ASDs. 27743928 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.370 GeneticVariation disease BEFREE Although our positive results are not definitive, they suggest small effect associations of the ITGB3 gene with both ASD diagnosis and symptoms of echolalia. 25280596 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.370 Biomarker disease BEFREE Overall results of the present study indicate likely involvement of ITGB3 and TPH2 in the pathophysiology of ASD in the Indian population. 23628433 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.370 Biomarker disease BEFREE Given the lack of previous data on the impact of integrin β3 on brain or behavioral phenotypes, we sought to compare mice with decreased or absent expression of the integrin β3 receptor subunit (Itgb3 +/- and -/-) with wildtype littermate controls in behavioral tasks relevant to ASD. 21254450 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.370 Biomarker disease CTD_human Given the lack of previous data on the impact of integrin β3 on brain or behavioral phenotypes, we sought to compare mice with decreased or absent expression of the integrin β3 receptor subunit (Itgb3 +/- and -/-) with wildtype littermate controls in behavioral tasks relevant to ASD. 21254450 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.370 GeneticVariation disease BEFREE In conclusion, we identify a significant association between a common ITGB3 haplotype and ASD. 21102624 2011