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Molecular and in silico analyses of SYN III gene variants in autism spectrum disorder

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Abstract

Background

Defects in neurotransmission and synaptogenesis are noteworthy in the pathogenesis of ASD. Synapsin III (SYN III) is defined as a synaptic vesicle protein that plays an important role in synaptogenesis and regulation of neurotransmitter release and neurite outgrowth. Therefore, SYN III may associate with many neurodevelopmental diseases, including ASD.

Aim

The aim of this study was to investigate whether the SYN III gene -631 C > G (rs133946) and -196 G > A (rs133945) polymorphisms are associated with susceptibility to ASD.

Methods

SYN III variants and the risk of ASD were investigated in 26 healthy children and 24 ASD children. SYN III gene variants were genotyped by PCR–RFLP methods. The differences in genotype and allele frequencies between the ASD and control groups were calculated using the chi-square (χ2). We analysed the SYN III gene using web-based tools.

Results

Our results suggest that the presence of the AA genotype of the SYN III -196 G > A (rs133945) polymorphism affects the characteristics and development of ASD in children (p = 0.012). SYN III -631 C > G (rs133946) polymorphism was not associated with ASD (p = 0.524). We have shown the prediction of gene–gene interaction that SYN III is co-expressed with 17 genes, physical interaction with 3 genes, and co-localization with 12 genes. The importance of different genes (SYN I, II, III, GABRD, NOS1AP, GNAO1) for ASD pathogenesis was revealed by GO analysis.

Conclusion

Considering the role of SYN III and related genes, especially in the synaptic vesicle pathway and neurotransmission, its effect on ASD can be further investigated.

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Funding

This paper was supported by the Scientific and Technological Research Council of Turkey (TUBITAK) under Grant No: 1919B012003527.

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Authors and Affiliations

  1. Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey

    Remzi Oguz Baris

  2. Department of Child and Adolescent Mental Health Diseases School of Medicine, Muğla Sıtkı Koçman University, Mugla, Turkey

    Nilfer Sahin

  3. Department of Medical Biology, Health Sciences Institution, Muğla Sıtkı Koçman University, Mugla, Turkey

    Ayşegül Demirtas Bilgic & Cilem Ozdemir

  4. Department of Medical Biology, School of Medicine, Muğla Sıtkı Koçman University, Mugla, 48000, Turkey

    Tuba Gokdogan Edgunlu

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  1. Remzi Oguz Baris
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Contributions

Remzi Oguz BARIS: Investigation, Writing-Original Draft, Visualization; Nilfer SAHİN: Conceptualizaton, Resources, Investigation, Writing-Original Draft, Visualization; Aysegul DEMIRTAS BILGIC: Investigation, Writing-Original Draft, Visualization; Cilem OZDEMİR: Investigation, Writing-Original Draft, Visualization; Tuba GOKDOGAN EDGUNLU: Conceptualizaton, Resources, Writing-Review and Editing, Supervision, Project Administration. All authors read and approved the final version of the manuscript.

Corresponding author

Correspondence to Cilem Ozdemir.

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Ethics approval

The study was approved by Muğla Sıtkı Koçman University Medical Faculty Ethics Committee and was conducted according to the Declaration of Helsinki, and informed consent was obtained from all participants. The procedures used in this study adhere to the tenets of the Declaration of Helsinki. Informed consent and written informed consent were obtained from all patients prior to their participation in the study.

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Baris, R.O., Sahin, N., Bilgic, A.D. et al. Molecular and in silico analyses of SYN III gene variants in autism spectrum disorder. Ir J Med Sci 192, 2887–2895 (2023). https://doi.org/10.1007/s11845-023-03402-w

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