Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios.
OBJECTIVE
Autism spectrum disorders (ASD) are complex neuropsychiatric disorders having a genetic risk factor. The association and linkage study for the gamma-aminobutyric acid type A receptor beta3 subunit gene (GABRB3), located within the chromosome 15q11-q13 autism candidate region, and ASD have been evaluated. The aim of this study was to investigate the association between GABRB3 and ASD in the Korean population.


METHODS
The present study was conducted with the detection of four single-nucleotide polymorphisms (rs1426217, rs2081648, rs890317, rs981778) in GABRB3 and association analysis in 104 Korean ASD trios using the transmission disequilibrium test.


RESULTS
The transmission disequilibrium test demonstrated that an allele at rs2081648 showed preferential transmission (p = 0.027). One haplotype, including all examined markers in GABRB3, demonstrated significant association (p = 0.043), but the global chi2 test for haplotype transmission did not reveal an association between GABRB3 and ASD (chi2 = 15.516, d.f. = 15).


CONCLUSIONS
Our finding suggested that single-nucleotide polymorphisms in GABRB3 may play a significant role in the genetic predisposition to ASD in the Korean population.
Kim
Soon Ae
SA
Department of Pharmacology, School of Medicine, Eulji University, Daejeon, South Korea.
Kim
Jin Hee
JH
Park
Mira
M
Cho
In Hee
IH
Yoo
Hee Jeong
HJ
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000208:ethnology / Q000235:genetics*; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007723:Korea; D015810:Linkage Disequilibrium; D008297:Male; D010290:Parents; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D021122:Protein Subunits / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics*
C546273:GABRB3 protein, human; D021122:Protein Subunits; D011963:Receptors, GABA-A