مشخصات پژوهش

صفحه نخست /Synaptosome-Associated ...
عنوان
Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population
نوع پژوهش مقاله چاپ شده
کلیدواژه‌ها
Autism spectrum disorders.SNAP25. Polymorphisms. Neurodevelopmental disorders
چکیده
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 theSNAP25and 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 theSNAP25 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 SNAP25polymorphisms as susceptibility genetic factors involved in developing ASD. KeywordsAutism spectrum disorders.SNAP25.
پژوهشگران محمدرضا صفری (نفر اول)، علیرضا کمکی (نفر ششم به بعد)، مهردخت مزده (نفر ششم به بعد)، علی قلعه ایها (نفر ششم به بعد)