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- Title
Association between a GABRB3 polymorphism and autism.
- Authors
Buxbaum, J.D.; Silverman, J.M.; Smith, C.J.; Greenberg, D.A.; Kilifarski, M.; Reichert, J.; Cook Jr., E.H.; Fang, Y.; Song, C.-Y.; Vitale, R.
- Abstract
Autistic disorder (OMIM 209850) is a disease with a significant genetic component of a complex nature. Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome critical region (15q11-13) have been described in several individuals with autism. For this reason, markers across this region have been screened for evidence of linkage and association, and a marker (155CA-2) in the γ-aminobutyric acid type-A receptor β3 subunit gene (GABRB3) has been associated in one study but not others. We completed an association analysis with 155CA-2 using the transmission disequilibrium test (TDT) in a set of 80 autism families (59 multiplex and 21 trios). We also used four additional markers (69CA, 155CA-1, 85CA, and A55CA-1) localized within 150 kb of 155CA-2. The use of multi-allelic TDT (MTDT) (P < 0.002), as well as the TDT (P < 0.004), demonstrated an association between autistic disorder and 155CA-2 in these families. Meiotic segregation distortion could be excluded as a possible cause for these results since no disequilibrium was observed in unaffected siblings. These findings support a role for genetic variants within the GABA receptor gene complex in 15q11-13 in autistic disorder.
- Subjects
GENETIC polymorphisms; GENETICS of autism
- Publication
Molecular Psychiatry, 2002, Vol 7, Issue 3, p311
- ISSN
1359-4184
- Publication type
Article
- DOI
10.1038/sj.mp.4001011