Transforming growth factor beta 1 869T/C and 915G/C polymorphisms and risk of autism spectrum disorders

Background: Transforming growth factor-B1 (TGF-B1) has been found to play a crucial role in early central nervous system development. Several studies have illustrated decreased TGF-B1 levels in sera and brains of autistic children. Two point mutations in the TGF-B1 signal peptide at 869T/C and 915G/C have been reported to influence TGF-B1 expression. The aim of the present study was to investigate the correlation of TGF-B1 polymorphisms and their haplotypes with autism. Methods: This study was performed on 39 autistic patients and 35 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 GC25 between the controls and all children with autism. Conclusion: Thus, these results indicate that the polymorphisms in TGF-B1 gene may not play an important role in the development of autism.