Association of FBXO40 rs527341033 Polymorphism and Susceptibility to Autism in Northern Iran

Autism is a childhood neuropsychiatric disorder which is highly heritable and characterized by presence of repetitive and restricted behavior or interest and disability in social communication. Over the past two decades, the prevalence of autism spectrum disorders (ASDs) has shown an incredible rise; the spread mean has been reported as 0.62% globally. Studying monozygotic twins revealed that autism heritability is 60% to 90% confirming that genetic factors play important roles in autism pathogenesis. According to a genome-wide study, an association between FBXO40 Copy Number Variations (CNVs) and Autism was found. The human FBXO40 gene expresses a member of F-box proteins which is marked as component of SCF (Skp1-Cullin1-F-box) E3 ubiquitin complexes. The Ubiquitin proteasome system (UPS) takes part in regulation of synaptic function such as pre-synaptic neurotransmission, apical dendrite outgrowth and synapse elimination and formation. The UPS also plays role in regulating social interactions and behaviors. The Ubiquitin-proteasome pathway causes proteolysis which affects the natural function of brain resulting neurodegenerative diseases. Here, we investigated whether FBXO40 rs527341033 polymorphism affects the susceptibility to Autism.This study included 60 autistic patients and 60 control cases. The genomic DNA was extracted from peripheral blood using a GPP solution kit. Tetra-primer ARMS-PCR method was applied for genotyping of FBXO40 rs527341033.An obvious difference was found in both allele frequencies and genotype distributions of the rs527341033 SNP between patients and control group. The results indicated that there is an association between the incidence of autism and FBXO40 rs527341033 in northern Iran.