Analysis of linkage disequilibrium in γ-aminobutyric acid receptor subunit genes in autistic disorder

Eden R. Martin, M. M. Menold, C. M. Wolpert, M. P. Bass, S. L. Donnelly, S. A. Ravan, A. Zimmerman, J. R. Gilbert, J. M. Vance, L. O. Maddox, H. H. Wright, R. K. Abramson, G. R. DeLong, M. L. Cuccaro, M. A. Pericak-Vance

Research output: Contribution to journalArticlepeer-review

131 Scopus citations


Autistic disorder (AD) is a neurodevelopmental disorder characterized by abnormalities in behavior, communication, and social interactions and functioning. Recently, Cook et al. reported significant linkage disequilibrium with an AD susceptibility locus and a marker, GABRB3 155CA-2, in the γ-aminobutyric acid(A) (GABA(A)) receptor β3-subunit gene on chromosome 15q11-q13. This linkage disequilibrium was detected using a multiallelic version of the transmission/disequilibrium test (TDT) in a sample of nuclear families having at least one child with autistic disorder. In an attempt to replicate this finding we tested for linkage disequilibrium with this marker, as well as with three additional markers in and around the GABA(A) receptor β3-subunit gene, in an independent, clinically comparable set of AD families. Unlike Cook et al., we failed to detect significant linkage disequilibrium between GABRB3 155CA-2 and AD in our sample. We did, however, find suggestive evidence for linkage disequilibrium with a marker, GABRB3, approximately 60 kb beyond the 3' end of β3-subunit gene. This finding lends support for previous reports implicating the involvement of genes in this region with AD. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)43-48
Number of pages6
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number1
StatePublished - Feb 7 2000


  • Autistic disorder
  • Gamma-aminobutyric acid receptor
  • Linkage disequilibrium
  • Transmission/disequilibrium test (TDT)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • General Neuroscience


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