The role of β3 integrin gene variants in Autism Spectrum Disorders — Diagnosis and symptomatology

Schuch, Jaqueline Bohrer; Müller, Diana; Endres, Renata Giuliani; Bosa, Cleonice Alves; Longo, Dânae; Schüler‐Faccini, Lavínia; Ranzan, Josiane; Becker, Michele Michelin; Riesgo, Rudimar dos Santos; Roman, Tatiana

doi:10.1016/j.gene.2014.09.058

Cited by 29 publications

(15 citation statements)

References 42 publications

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“…Some studies have demonstrated that variants in this gene are associated with an increase in serotonin transporter expression and in serotonin uptake (Carneiro et al , 2008; Whyte et al , 2014). These variants have also been related to behavioral disorders (Weiss et al , 2006a; Napolioni et al , 2011; Schuch et al , 2014). …”

Section: Introductionmentioning

confidence: 99%

Music genetics research: Association with musicality of a polymorphism in the AVPR1A gene

et al. 2017

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Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully understood. Our hypothesis in the current study is that genes associated with different behaviors could also influence the musical phenotype. Our aim was to investigate whether polymorphisms in six genes (AVPR1A, SLC6A4, ITGB3, COMT, DRD2 and DRD4) related to social and cognitive traits are associated with musicality in a sample of children. Musicality was assessed through an individualized music therapy assessment profile (IMTAP) which has been validated in Brazil to measure musical ability. We show here that the RS1 microsatellite of the AVPR1A gene is nominally associated with musicality, corroborating previous results linking AVPR1A with musical activity. This study is one of the first to investigate musicality in a comprehensive way, and it contributes to better understand the genetic basis underlying musical ability.

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Section: Introductionmentioning

confidence: 99%

Music genetics research: Association with musicality of a polymorphism in the AVPR1A gene

et al. 2017

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“…As an example, stage II colon cancer patients with at least one G allele for rs4642 had a higher risk for recurrence while the rs3809865 A/A genotype was associated with a greater risk for developing venous thromboembolism in colorectal cancer patients (Bianconi et al, 2015). Schuch et al (2014) analysed 5 SNPS and found a positive correlation for two of them, including rs15908 that is commonly represented in our cohort. Schuch et al (2014) analysed 5 SNPS and found a positive correlation for two of them, including rs15908 that is commonly represented in our cohort.…”

Section: Discussionmentioning

confidence: 59%

Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease‐causing mutations are recent

Pillois

Nurden

2016

Br J Haematol

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We recently reported mutation analysis of the largest cohort of Glanzmann thrombasthenia (GT) patients so far examined. Sanger sequencing of coding regions, splice sites, upstream and downstream regions of the ITGA2B and ITGB3 genes identified 78 causal genetic variants (55 novel); 4 large deletions or duplications were also detected. We have now analysed the expression of non-causal gene polymorphisms in the sequenced regions of both genes in selected members of this cohort. We identified 10 mostly silent variants in ITGA2B and 37 in ITGB3; all were present in control donor databases. Three non-synonymous single nucleotide polymorphisms present were human platelet alloantigen (HPA) variants. A series of haplogroups, often including HPA-3b in ITGA2B, repeated with little variation across unrelated families of wide geographical origins and with different GT-causing mutations whether in ITGA2B or ITGB3. In contrast, a deleterious heterozygous c.1440-13_c.1440-1del in intron 14 of ITGA2B shared a common ITGA2B haplogroup composed of at least five gene polymorphisms and re-occurred in seven European families with no known family relationships. Our results highlight the value of gene polymorphism analysis in GT and are consistent with the bulk of disease-causing mutations in GT being of recent origin.

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“…Numerous platelets are eventually linked by such fibrinogen bridges, resulting in a platelet plug . As mentioned above, the β‐chain of the αIIbβ3 receptor is encoded by ITGB3 and variants for this gene have been associated with elevated blood 5‐HT levels in ASD . The β3‐subunit associates with αIIb to form the integrin αIIbβ3 in platelets, and with αv to form the integrin αvβ3 in neurons .…”

Section: Platelet Activation Receptor αIibβ3 and Autismmentioning

confidence: 99%

“…61,62 As mentioned above, the β-chain of the αIIbβ3 receptor is encoded by ITGB3 and variants for this gene have been associated with elevated blood 5-HT levels in ASD. 57,63,64 The β3-subunit associates with αIIb to form the integrin αIIbβ3 in platelets, and with αv to form the integrin αvβ3 in neurons. 65 In platelets, activated integrin αIIbβ3 interacts directly with the C-terminus of SERT and enhances the externalization and function of SERT.…”

Section: Platelet Activation Receptor αIibβ3 and Autismmentioning

confidence: 99%

Blood platelet research in autism spectrum disorders: In search of biomarkers

Padmakumar

Raes

Geet

et al. 2019

Research and Practice in Thrombosis and Haemostasis

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Autism spectrum disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder that is caused by gene‐environment interactions. To improve its diagnosis and treatment, numerous efforts have been undertaken to identify reliable biomarkers for autism. None of them have delivered the holy grail that represents a reproducible, quantifiable, and sensitive biomarker. Though blood platelets are mainly known to prevent bleeding, they also play pivotal roles in cancer, inflammation, and neurological disorders. Platelets could serve as a peripheral biomarker or cellular model for autism as they share common biological and molecular characteristics with neurons. In particular, platelet‐dense granules contain neurotransmitters such as serotonin and gamma‐aminobutyric acid. Molecular players controlling granule formation and secretion are similarly regulated in platelets and neurons. The major platelet integrin receptor αIIbβ3 has recently been linked to ASD as a regulator of serotonin transport. Though many studies revealed associations between platelet markers and ASD, there is an important knowledge gap in linking these markers with autism and explaining the altered platelet phenotypes detected in autism patients. The present review enumerates studies of different biomarkers detected in ASD using platelets and highlights the future needs to bring this research to the next level and advance our understanding of this complex disorder.

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The role of β3 integrin gene variants in Autism Spectrum Disorders — Diagnosis and symptomatology

Cited by 29 publications

References 42 publications

Music genetics research: Association with musicality of a polymorphism in the AVPR1A gene

Music genetics research: Association with musicality of a polymorphism in the AVPR1A gene

Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease‐causing mutations are recent

Blood platelet research in autism spectrum disorders: In search of biomarkers

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