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Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population

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Abstract

Autism spectrum disorder (ASD) is a common, complex neurological condition, affecting approximately 1% of people worldwide. Monogenic neurodevelopmental disorders which showed autistic behavior patterns have suggested synaptic dysfunction, as a key mechanism in the pathophysiology of ASD. Subsequently, genes involved in synaptic signaling have been investigated with a priority for candidate gene studies. A synaptosomal-associated protein 25 (SNAP25) gene plays a crucial role in the central nervous system, contributing to exocytosis by targeting and fusion of vesicles to the cell membrane. Studies have shown a correlation between aberrant expression of the SNAP25 and a variety of brain diseases. Single nucleotide polymorphisms (SNPs) in this gene are associated with several psychiatric diseases, such as bipolar, schizophrenia, and attention-deficit/hyperactivity disorder. The aim of the present study was to investigate whether polymorphisms (rs3746544 and rs1051312) in the regulatory 3′-untranslated region (3′UTR) of the SNAP25 gene have an association with ASD in unrelated Iranian case (N = 524)-control (N = 472) samples. We observed robust association of the rs3746544 SNP and ASD patients, in both allele and haplotype-based analyses. Our results supported the previous observations and indicated a possible role for SNAP25 polymorphisms as susceptibility genetic factors involved in developing ASD.

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Acknowledgments

We would like to offer our sincere gratitude to the State Welfare Organization and Departments of Special Education of Tehran, Hamadan, Ahvaz, Mashhad, Esfahan, and Abadan. We are also grateful to all the honorable patients and volunteer subjects as controls and their families. This study was funded by the Hamadan University of Medical Sciences (grant number 9504081836) and was supported by the Department of Medical Genetics of Shahid Beheshti University of Medical Science.

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Authors and Affiliations

  1. Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran

    Mohammad reza Safari, Alireza Komaki & Mehrdokht Mazdeh

  2. Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Mir Davood Omrani, Arezou Sayad, Shaghayegh Sarrafzadeh & Mohammad Taheri

  3. Urogenital Stem Cell Research Center, Shahid Labbafi Nejad Educational Hospital, Shahid Beheshti University of Medical Sciences, No 23, Amir Ebrahimi St, Pasdaran Ave, Tehran, Iran

    Mir Davood Omrani & Mohammad Taheri

  4. Young Researchers and Elite Club, Ahvaz Branch, Islamic Azad University, Ahvaz, Iran

    Rezvan Noroozi

  5. Department of Medical Genetics, Yazd University of Medical Sciences, Yazd, Iran

    Fateme Asadzadeh Manjili

  6. Department of Neurology, Hamadan University of Medical sciences, Hamadan, Iran

    Mehrdokht Mazdeh

  7. Research Center for Behavioral Disorders and Substance Abuse, Hamadan University of Medical Sciences, Hamadan, Iran

    Ali Ghaleiha

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  1. Mohammad reza Safari
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Correspondence to Mohammad Taheri.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional Hamadan University of Medical Sciences (IR.UMSHA.REC.1394.521).

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Safari, M.r., Omrani, M.D., Noroozi, R. et al. Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population. J Mol Neurosci 61, 305–311 (2017). https://doi.org/10.1007/s12031-016-0860-2

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