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Published on: April 1, 2019
Transforming growth factor beta 1 869T/C and 915G/C polymorphisms and risk of autism spectrum disorders
Mohammad Reza Khakzad1, Farhad Salari2, Maryam Javanbakht3
1Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Department of Immunology, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
Background:
Transforming growth factor-β1 (TGF-β1) has been found to play a crucial role in early central nervous system development. Several studies have illustrated decreased TGF-β1 levels in sera and brains of autistic children. Two point mutations in the TGF-β1 signal peptide at 869T/C and 915G/C have been reported to influence TGF-β1 expression. The aim of the present study was to investigate the correlation of TGF-β1 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-β1 gene may not play an important role in the development of autism.
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