Analysis of GABRB1 association with Autism in Chinese Han Population with SNP genotyping

摘要

Autism is a complex neurodevelopment disorder with a broad spectrum of symptoms and varying severity. The gamma-aminobutyric acid (GABA) A receptor (GABRB1) is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. We examined the association of GABRB1 genes with autism, in a SNP genotyping analysis, using DNA samples from trio families recruited which included 117 Chinese Han family trios with autism and 120 normal individuals. We selected rs2351299 and rs3832300 as candidate SNP sites, and found that rs2351299 is associated with Autistic patients who have linguistic problem (chi-square 4.088194, p=0.043237)，while rs3832300 is not significantly associated in our sample with autism.