Association of Neuronal Cell Adhesion Molecule ( NrCAM ) Gene with Autism Spectrum Disorder in Indian Cohorts

Background Autism spectrum disorder (ASD) is the most complex neurodevelopmental disorder with impairments in communication, social interaction and stereotyped behaviours. ASD has been found to increase immeasurably in India, with estimates ranging from 1 in 68 to 1 in 100 children. Genetically, more than 1,000 genes have been linked with ASD. Among them, the neuronal cell adhesion molecule ( NrCAM ) gene is one of the candidate genes and is important for its critical role in the development and function of the nervous system, particularly in wiring the brain through axon guidance and organising myelinated nerve structures. Disruptions in this gene are associated with various neurodevelopmental, psychiatric and cancer-related disorders. Purpose The present study aimed to understand the association of the NrCAM gene with ASD. Methods Ten exons of the NrCAM gene (one from 5′UTR, five from the immunoglobulin domain, three from the fibronectin domains and one from 3′UTR region) were selected and screened for single nucleotide polymorphisms (SNPs) by Sanger sequencing. Several in silico analyses were used for the association study. Results The results revealed four SNPs from coding and untranslated regions (rs2072546, rs401433, rs1269634 and rs449077) of the NrCAM gene which were analysed for association by linkage disequilibrium analysis. Conclusion The present study clearly suggests that these SNPs of the NrCAM gene are associated with ASD.