Mohammad Reza Khakzad1, Farhad Salari2, Maryam Javanbakht3, Maryam Hojati4, Abdolreza Varasteh5, Mojtaba Sankian2, Mojtaba Meshkat6. 1. Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Department of Immunology, Mashhad Branch, Islamic Azad University, Mashhad, Iran. 2. Immunology Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran. 3. Department of Psychiatrics, Islamic Azad University, Mashhad Branch, Mashhad, Iran. 4. Noor Hedayat Center of Autism Spectrum Disorders, Mashhad, Iran. 5. Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. 6. Department of Biostatistc, Shahid Beheshti University of medical sciences, Tehran, Iran.
Abstract
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.
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 autisticchildren. 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 autisticpatients 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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