Association between Common Single- nucleotide Polymorphism of Reelin Gene, rs736707 (C/T) with Autism Spectrum Disorder in Iranian-Azeri Patients

Introduction Reelin gene (RELN) codes a large extracellular matrix glycoprotein with serine protease activity and is implicated in the modulation of neuronal signaling, synaptic transmission and plasticity. The reelin plays a fundamental and pivotal role in the development of laminar structures and may be one of the loci contributing to the positive linkage between chromosome 7q and autistic disorder. This study was performed to examine the association of a frequent genetic variation in reelin gene, rs736707 (C/T), with Autism risk among Iranian-Azeri population. Materials and Methods A case–control association study included 74 patients with Autism spectrum disorder (ASD) and 86 healthy subjects. Genomic DNA was extracted from peripheral blood samples by salting-out method. Single nucleotide polymorphisms (SNP) genotyping was carried out by Polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) technique. The collected data were analyzed through java stant online statistics software, using Chi-square, with a significance level of 0.05. Results Significant differences in the allele and genotype frequencies between cases and controls were not observed (P> 0.05). The rs736707SNP was not associated with Autism predisposition in Iranian-Azeri children. Conclusion Based on our results, the rs736707 SNP could not be used as a useful molecular biomarker to predict genetic susceptibility for autism spectrum disorder in Iranian-Azeri patients.

Keywords:

Autism , Molecular marker , Polymorphism , Reelin gene