Peer-reviewed article
An association study of the SOD2 rs4880 (Ala16Val) variant with Autism Spectrum Disorder.
Pallabi Adak, Samidh Sankar Chakraborty, Apurba Kumar Bandyopadhyay, Sutanuka Ghosal, Mahasweta Chatterjee et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a genetic association study examining whether a variant in the SOD2 gene is linked to autism spectrum disorder in children. The study found that the T allele of the rs4880 variant was more common in children with autism and associated with differences in gene expression. While the research contributes to understanding potential biological mechanisms in autism, it does not evaluate an intervention for improving child well-being.
Key points
- The SOD2 rs4880 T allele was more frequently observed in 366 children with ASD compared to 229 healthy controls
- SOD2 gene expression differed between ASD cases and controls across different genotype groups
- Reduced SOD2 expression was associated with increased 'Fear or Nervousness' and impaired 'Verbal Communication' in children with ASD
Limitations
This is a genetic association study, not an intervention evaluation. It cannot tell us whether addressing oxidative stress through treatment would improve outcomes for children with autism, nor does it test any specific well-being intervention.
Abstract
Autism Spectrum Disorder (ASD) is a complex and highly heterogeneous neurodevelopmental disorder. Among various contributing factors, oxidative stress plays a major role in ASD pathophysiology. The study of antioxidant genes, therefore, may contribute to revealing important aspects of ASD. The Superoxide Dismutase (SOD) gene family (well-known antioxidant) plays a crucial role in protecting cells from oxidative damage. This study aimed to investigate the functional impact of the SOD2 rs4880 (C > T) variant in children with ASD. A total of 595 participants were recruited, including 366 children with ASD (295 males and 71 females) and 229 healthy controls (125 males and 104 females). Genotyping was performed by the ARMS-PCR method. The trait severity of ASD was evaluated by the Childhood Autism Rating Scale, 2nd edition (CARS2-ST). SOD2 gene expression was measured by quantitative real-time PCR in a subset of 99 ASD cases and 66 controls. Our findings revealed a significant association between rs4880 and ASD, with a higher frequency of the T allele and TT genotype among ASD subjects than controls. Differences in SOD2 gene expression were observed between ASD cases and controls across rs4880 genotype groups, suggesting that rs4880 variation may influence SOD2 expression. Furthermore, reduced SOD2 expression was associated with increased behavioural symptoms, particularly "Fear or Nervousness" and impaired "Verbal Communication," indicating a potential relationship between altered antioxidant defence and specific behavioural manifestations of ASD. These findings suggest that the SOD2 rs4880 variant may contribute to ASD susceptibility through its association with altered SOD2 expression and behavioural characteristics.