Association of CNTNAP2 rs7794745 Polymorphism with Autism Spectrum Disorder in South Indian Children: A Case-Control Study

Pushkala S, Valarmathi S, Kiruthiga A

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 2 = 7.05, p

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

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