Case-control study shows no significant association between CNTNAP2 polymorphism and autism prevalence in children, suggesting alternative factors at play.
Background: Autism is an incurable condition that may be attributed to several factors, such as genetic predisposition and environmental influences. Multiple studies have discovered that a substantial number of genes linked to autism serve as constituents of signaling pathways that regulate the plasticity of synapses and development, hence exerting a notable impact on the origins of the illness. CNTNAP2 is increased during the initial phases of neural tube development. Given the increasing worldwide occurrence of autism, there is a growing demand for effective teaching methods and educational programs. Methods: A case-control study recorded 90 samples, comprising 50 autistic individuals (males and females, mean age 4.5 ± 2 years) and 40 healthy youngsters (5 ± 2 years). PCR and restriction enzymes are used in polymerase chain reaction-restriction to amplify and analyze DNA sequences. PCR-RFLP genotyped CNTNAP2 at rs7794745. Genomic DNA was isolated from peripheral blood cells of healthy children while buccal cells were swapped from patients to obtain and genotype their DNA. Results: Our results revealed that the low-frequency distribution (p-value > 0.05) of the rs7794745 SNP is statistically non-significant in ASD patients compared to healthy children. Conclusion: Our case-control study suggests that rs7794745 polymorphism is unrelated to ASD.
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AL-Safar et al. (2024) studied this question.
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