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Original Research | Immunology | Volume 15 Issue 6, June 2026 | Pages: 1331 - 1336 | India
Association of CNTNAP2 rs7794745 Polymorphism with Autism Spectrum Disorder in South Indian Children: A Case-Control Study
Abstract: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by impairments in social communication and interaction, with restricted and repetitive behaviours. Genetic factors contribute to ASD susceptibility and polymorphisms in the Contactin-Associated Protein-Like 2 (CNTNAP2) gene have been implicated in its pathogenesis. Aim: This study investigated the association between the CNTNAP2 rs7794745 (A/T) polymorphism and ASD susceptibility in South Indian children. Materials and Methods: A case-control study was conducted among 72 children aged 4-11 years, including 32 clinically diagnosed ASD cases and 40 healthy controls. Genomic DNA was extracted from EDTA-anticoagulated blood samples and genotyping of the CNTNAP2 rs7794745 polymorphism was performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). Genotype and allele frequencies were compared using chi-square analysis and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Results: Genotype distribution differed significantly between ASD cases and controls (χ2 = 8.22, p < 0.02), with the TT genotype more frequent among ASD cases. The T allele was enriched in ASD cases (χ2 = 7.05, p < 0.05) and carriers showed increased ASD risk (OR = 1.91, 95% CI: 0.76-4.79). Male sex and delayed cry after birth were associated with ASD. Conclusion: Consistent with earlier studies, the CNTNAP2 rs7794745 polymorphism may contribute to ASD susceptibility in South Indian children, warranting further multicenter validation studies.
Keywords: Autism Spectrum Disorder, CNTNAP2, rs7794745, polymorphism, PCR-RFLP
How to Cite?: Pushkala S, Valarmathi S, Kiruthiga A, "Association of CNTNAP2 rs7794745 Polymorphism with Autism Spectrum Disorder in South Indian Children: A Case-Control Study", Volume 15 Issue 6, June 2026, International Journal of Science and Research (IJSR), Pages: 1331-1336, https://www.ijsr.net/getabstract.php?paperid=SR26622144849, DOI: https://dx.doi.org/10.21275/SR26622144849