title: Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population.
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.
authors.affiliation: Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Safari
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.|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.
authors.forename: Mir Davood
authors.initials: MD
authors.lastname: Omrani
authors.affiliation: Young Researchers and Elite Club, Ahvaz Branch, Islamic Azad University, Ahvaz, Iran.
authors.forename: Rezvan
authors.initials: R
authors.lastname: Noroozi
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Arezou
authors.initials: A
authors.lastname: Sayad
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Shaghayegh
authors.initials: S
authors.lastname: Sarrafzadeh
authors.affiliation: Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Komaki
authors.affiliation: Department of Medical Genetics, Yazd University of Medical Sciences, Yazd, Iran.
authors.forename: Fateme Asadzadeh
authors.initials: FA
authors.lastname: Manjili
authors.affiliation: Neurophysiology Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.|Department of Neurology, Hamadan University of Medical sciences, Hamadan, Iran.
authors.forename: Mehrdokht
authors.initials: M
authors.lastname: Mazdeh
authors.affiliation: Research Center for Behavioral Disorders and Substance Abuse, Hamadan University of Medical Sciences, Hamadan, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Ghaleiha
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. mohammad_823@yahoo.com.|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. mohammad_823@yahoo.com.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Taheri
mesh_terms: D020413:3' Untranslated Regions; D000067877:Autism Spectrum Disorder / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007492:Iran; D008297:Male; D020641:Polymorphism, Single Nucleotide; D050825:Synaptosomal-Associated Protein 25 / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; C494208:SNAP25 protein, human; D050825:Synaptosomal-Associated Protein 25
keywords: Autism spectrum disorders; Neurodevelopmental disorders; Polymorphisms; SNAP25