Abstract
AIMS: The neural cell adhesion molecule (NCAM) has been reported to be involved in the development of the central nervous system and its mRNA level might decrease in the serum of autistic patients. However, there was no evidence of the association of the NCAM1 gene polymorphisms with autism. In the present study, we enrolled 237 children with autism and 451 healthy control subjects. Then, we used the direct DNA sequencing for genotyping five tag single-nucleotide polymorphisms (SNPs) in the NCAM1 gene. RESULTS: By using case-control association analyses, we found that three SNPs at the NCAM1 gene were associated with autism (rs 4937786, p=0.015; rs 12418058, p=0.0076; rs 1436109, p=0.0023). Two of them remained significant after the Bonferroni multiple testing correction (rs 12418058, P(corrected) =0.038; rs 1436109, P(corrected) =0.012). Moreover, two of the SNPs were associated with the parental age at conception in autism (rs 12418058, p=0.037; rs 1436109, p=0.01). CONCLUSION: These results showed that NCAM1 might play an important role in the pathogenesis of autism.