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GABRR1 and GABRR2, encoding the GABA-A receptor subunits ρ1 and ρ2, are associated with alcohol dependence
Journal article   Peer reviewed

GABRR1 and GABRR2, encoding the GABA-A receptor subunits ρ1 and ρ2, are associated with alcohol dependence

Xiaoling Xuei, Leah Flury-Wetherill, Danielle Dick, Alison Goate, Jay Tischfield, John Nurnberger, Marc Schuckit, John Kramer, Sam Kuperman, Victor Hesselbrock, …
American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.153B(2), pp.418-427
03/05/2010
DOI: 10.1002/ajmg.b.30995
PMCID: PMC2829340
PMID: 19536785
url
https://soar.suny.edu/bitstream/20.500.12648/8213/1/nihms-172899.pdfView
Open Access

Abstract

The genes encoding several GABA-A receptor subunits, including GABRA2 , have been associated with alcoholism, suggesting that variations in GABA signaling contribute to risk. Therefore, as part of a comprehensive evaluation of the GABA receptor genes, we evaluated the potential association of GABRR1 and GABRR2, which encode the ρ1 and ρ2 subunits of the pentameric GABA-A/GABA-C receptors. GABRR1 and GABRR2 lie in a head to tail orientation spanning 137 kb on chromosome 6q14-16. We genotyped 73 SNPs, covering both genes and extending 31 kb upstream of GABRR2 and 95 kb downstream of GABRR1, in a sample of 1923 European Americans from 219 multiplex alcohol dependent families. Family-based association analyses demonstrated that SNPs in both GABRR1 and GABRR2 were significantly associated with alcohol dependence. Among the associated SNPs was rs282129, a coding SNP (Met430Thr) in GABRR2 . Secondary analysis using a median split for age of onset suggests that the association is strongest when the analysis is focused upon those with earlier onset of alcohol dependence. Haplotypes in each gene were significantly overtransmitted to family members who did not meet criteria for alcohol dependence (p<0.04), and a haplotype in GABRR2 was significantly overtransmitted to family members who met a broader definition of alcoholism (p=0.002) as well as DSM-IV dependence (p=0.04).
Genetics rho subunit alcoholism GABA-A receptor single nucleotide polymorphism

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