Microsatellite Marker in Gamma - Aminobutyric Acid - A Receptor Beta 3 Subunit Gene and Autism Spectrum Disorders in Korean Trios

• Published in: Yonsei medical journal Vol. 50; no. 2; pp. 304 - 306
• Main Authors: Yoo, Hanik K., Chung, Seockhoon, Hong, Jin Pyo, Kim, Boong-Nyun, Cho, Soo Churl
• Format: Journal Article
• Language: English
• Published: Korea (South) Yonsei University College of Medicine 30.04.2009; 연세대학교의과대학
• Subjects: Adult; Asian Continental Ancestry Group - genetics; Autistic Disorder - genetics; Brief Communication; Child; Child, Preschool; Female; Genetic Predisposition to Disease; Humans; Infant; Korea; Male; Microsatellite Repeats - genetics; Pedigree; Receptors, GABA-A - genetics; 의학일반; Korea; Autism spectrum disorders; microsatellite; transmission disequilibrium test; genetics; gamma-aminobutyric acid-A receptor subunit β3
• ISSN: 0513-5796; 1976-2437; 1976-2437
• DOI: 10.3349/ymj.2009.50.2.304

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.