This study aimed to identify the association between gamma-aminobutyric acid-A (GABA-A) receptor subunit beta3 (GABRB3) gene and autism spectrum disorders (ASD) in Korea. Fifty-eight children with ASD [47 boys (81.0%), 5.5 +/- 4.1 years old], 46 family trios, and 86 healthy control subjects [71 males (82.6%), 33.6 +/- 9.3 years old] were recruited. Transmission disequilibrium test revealed that, 183 bp long allele in GABRB3 gene was preferentially transmitted in families with ASD (p = 0.025), whereas a population-based case-control study, however, showed no association between ASD and GABRB3 microsatellite polymorphism. Our data provide preliminary evidence that GABRB3 gene is associated with ASD in Korea.
Keywords: Autism spectrum disorders; gamma-aminobutyric acid-A receptor subunit β3; genetics; microsatellite; transmission disequilibrium test.