Yonsei Med J.  2009 Apr;50(2):304-306.

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

• Yoo HK
• Chung S
• Hong JP
• Kim BN
• Cho SC

Abstract

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.

Keyword

Autism spectrum disorders; genetics; transmission disequilibrium test; microsatellite; gamma-aminobutyric acid-A receptor subunit beta3

MeSH Terms

Adult
Asian Continental Ancestry Group/*genetics
Autistic Disorder/*genetics
Child
Child, Preschool
Female
Genetic Predisposition to Disease
Humans
Infant
Korea
Male
Microsatellite Repeats/*genetics
Pedigree
Receptors, GABA-A/*genetics

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