eng Oriental Scientific Publishing Company Biomedical and Pharmacology Journal 0974-6242 2026-04-17 19 2 71422 article Nargis Khanam 1 Ankur Singh 2 Mona Srivastava 3 Abhay Kumar Yadav 1 Shani Vishwakarma 1 Anil Kumar Maurya 1 Department of Anatomy, Institute of Medical Science, Banaras Hindu University, Varanasi, UP, India Department of Pediatrics, Institute of Medical Science, Banaras Hindu University, Varanasi, UP, India Department of Psychiatry, Institute of Medical Science, Banaras Hindu University, Varanasi, UP, India Department of Kaumar Bharitya/Balroga, Faculty of Ayurveda, Institute of Medical Sciences, Banaras Hindu University, Varanasi, UP, India Multidisiplinary Research Unit, Institute of Medical Science, Banaras Hindu University, Varanasi, UP, India Autism is a Spectrum Disorder, which represents a multifaceted neurodevelopmental disorder distinguished by impairments in daily life behaviors such as communication, social engagement, and the manifestation of repetitive behaviors. The incidence of autism can be affected by variations in diagnostic criteria and demographic factors. Research indicates that trace elements such as magnesium, selenium, chromium, zinc, and copper are integral to optimal brain function, with deficiencies in these elements potentially exacerbating the characteristics of Autism spectrum disorder. Additionally, genetic variables, including copy number variations, significantly influence the etiology of Autism Spectrum Disorder. The present investigation was carried out on samples of 35 children diagnosed with Autism Spectrum Disorder alongside 35 age-matched healthy controls, ranging from 3 to 14 years of age. To investigate the possible link between genes and Autism Spectrum Disorder, genetic analysis was conducted using CGH microarray, while a trace element study was carried out using atomic absorption spectrophotometry. After that, the docking of proteins (CNTNAP3 and SPATA31A1) with metals was performed.  The results of the trace element analysis show significant variations in zinc and copper levels (P-value is 0.0003 and P-value <0.0001, respectively), with the ASD group having lower zinc and higher copper levels than the controls, changing the zinc/copper ratio. The result of the CGH microarray identified CNVs in the CNTNAP3 and SPATA31A1 genes. The result of docking demonstrated that zinc bound to CNTNAP3 and SPATA31A1 protein more strongly, with binding scores of 6.280 and 9.805, respectively, than copper. https://biomedpharmajournal.org/vol19no2/investigating-the-role-of-trace-elements-and-copy-number-variants-in-autism-spectrum-disorder-a-focus-on-cntnap3-and-spata31a1-genes/ Autism Spectrum Disorder (ASD) Copper Copy Number Variations (CNV) Trace elements Zinc