Polymorphisms of Shank3 gene in Chinese Han Children with Autism Spectrum Disorders (ASD): A casecontrol study

This study investigated the co-relationship between single nucleotide polymorphisms (SNPs) variations of SHANK3 (SH3 and multiple ankyrin repeat domains 3) gene and childhood autism in Chinese Han populations. high-resolution method (HRM) were used to examine 11 polymorphisms of SHANK3 in 100 patients with ASD compared to 100 health controls. Risk estimates were expressed as odds ratio (OR) and 95% confidence interval (CI). Overall there were significant differences in the allele distributions of rs9616816, rs6010061 and rs756638 (for rs9616816, OR=1.918, 95%CI=1.287-2.858, P=0.001; for rs6010061, OR=0.517, 95%CI=0.291-0.919, P=0.023; for rs756638, OR=0.506, 95%CI=0.296-0.866, P=0.012; respectively). Logistic regression analyses confirmed that these three SNPs were directly linked with significant risk of ASD. Our data indicate that SHANK3 gene polymorphisms may play a vital role in ASD genetic susceptibility in Chinese Han populations.