Transforming Growth Factor Beta ۱ ۸۶۹T/C and ۹۱۵G/C Polymorphisms and Risk of Autism Spectrum Disorders

Background: Transforming growth factor-β۱ (TGF-β۱) has been found to play a crucial role in early central nervous system development. Several studies have illustrated decreased TGF-β۱ levels in sera and brains of autistic children. Two point mutations in the TGF-β۱ signal peptide at ۸۶۹T/C and ۹۱۵G/C have been reported to influence TGF-β۱ expression. The aim of the present study was to investigate the correlation of TGF-β۱ polymorphisms and their haplotypes with autism. Methods: This study was performed on ۳۹ autistic patients and ۳۵ age- and sex-matched normal controls in an Iranian population, using the sequence specific primed-polymerase chain reaction (PCR-SSP) technique. Patients were divided into mild-to-moderate and severe groups according to the childhood autism rating scale. Results: No significant differences were observed for allele, genotype, or haplotype frequencies between the autistics and controls. Only a slight difference was observed in GC۲۵ between the controls and all children with autism. Conclusion: Thus, these results indicate that the polymorphisms in TGF-β۱ gene may not play an important role in the development of autism.

Keywords:

Autism spectrum disorders , Development , Polymorphism , Transforming Growth Factor beta ۱