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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

GABRB1  -  gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: GABA(A) receptor subunit beta-1, Gamma-aminobutyric acid receptor subunit beta-1
 
 
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High impact information on GABRB1

  • EMDR also identified a significant two-locus gene-gene effect model involving RS1912960 in GABRA4 and RS2351299 in GABRB1 [1].
  • Dinucleotide repeat polymorphism at the human beta 1 subunit of the GABAA receptor gene (GABRB1) [2].
  • Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253) [3].
  • These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype [3].
  • Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene [4].
 

Biological context of GABRB1

References

  1. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Ma, D.Q., Whitehead, P.L., Menold, M.M., Martin, E.R., Ashley-Koch, A.E., Mei, H., Ritchie, M.D., Delong, G.R., Abramson, R.K., Wright, H.H., Cuccaro, M.L., Hussman, J.P., Gilbert, J.R., Pericak-Vance, M.A. Am. J. Hum. Genet. (2005) [Pubmed]
  2. Dinucleotide repeat polymorphism at the human beta 1 subunit of the GABAA receptor gene (GABRB1). Polymeropoulos, M.H., Rath, D.S., Xiao, H., Merril, C.R. Nucleic Acids Res. (1991) [Pubmed]
  3. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Collins, A.L., Ma, D., Whitehead, P.L., Martin, E.R., Wright, H.H., Abramson, R.K., Hussman, J.P., Haines, J.L., Cuccaro, M.L., Gilbert, J.R., Pericak-Vance, M.A. Neurogenetics (2006) [Pubmed]
  4. Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. Parsian, A., Zhang, Z.H. Am. J. Med. Genet. (1999) [Pubmed]
  5. Association of GABA(A) receptors and alcohol dependence and the effects of genetic imprinting. Song, J., Koller, D.L., Foroud, T., Carr, K., Zhao, J., Rice, J., Nurnberger, J.I., Begleiter, H., Porjesz, B., Smith, T.L., Schuckit, M.A., Edenberg, H.J. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2003) [Pubmed]
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