title: Alcohol use disorder and GABABreceptor gene polymorphisms in an Italian sample: haplotype frequencies, linkage disequilibrium and association studies.
abstract: BACKGROUND
  Alcohol use disorder (AUD) is a complex trait with genetic and environmental influences. Several gene variants have been associated with the risk for AUD, including genes encoding the sub-units of the γ-aminobutyric acid (GABA) receptors.
  
  
  OBJECTIVE
  This study evaluated whether specific single nucleotide polymorphisms (SNPs) in genes encoding GABABreceptor sub-units can be considered as candidates for the risk of AUD.
  
  
  METHODS
  Seventy-four AUD subjects and 128 Italian controls were genotyped for 10 SNPs in genes encoding GABA-B1 and GABA-B2 sub-units (GABBR1 and GABBR2). Allele, genotype, and haplotype frequencies were tested for the association with the AUD trait.
  
  
  RESULTS
  A significant difference between AUD individuals and controls was observed at genotype level for rs2900512 of GABBR2 gene. The homozygous T/T genotype was not found in the controls, whereas it was over-represented in the AUD individuals. Under the recessive model (T/T vs C/T + C/C) this result was statistically significant, as well as the Odds Ratio for the association with the AUD trait.
  
  
  CONCLUSIONS
  The results provide preliminary data on the association between GABABreceptor gene variation and risk of AUD. To confirm this finding, studies with larger samples and additional characterisation of the phenotypic AUD trait are required.
authors.affiliation: a Department of Internal Medicine , SS Annunziata Hospital, Cento , Ferrara , Italy.|b 'G. Fontana' Centre for the Study and Multidisciplinary Treatment of Alcohol Addiction, Department of Medical and Surgical Sciences , University of Bologna , Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Caputo
authors.affiliation: c Department of Biology , University of Rome Tor Vergata , Rome , Italy.
authors.forename: Bianca Maria
authors.initials: BM
authors.lastname: Ciminelli
authors.affiliation: c Department of Biology , University of Rome Tor Vergata , Rome , Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Jodice
authors.affiliation: c Department of Biology , University of Rome Tor Vergata , Rome , Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Blasi
authors.affiliation: a Department of Internal Medicine , SS Annunziata Hospital, Cento , Ferrara , Italy.
authors.forename: Teo
authors.initials: T
authors.lastname: Vignoli
authors.affiliation: a Department of Internal Medicine , SS Annunziata Hospital, Cento , Ferrara , Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Cibin
authors.affiliation: a Department of Internal Medicine , SS Annunziata Hospital, Cento , Ferrara , Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Zoli
authors.affiliation: c Department of Biology , University of Rome Tor Vergata , Rome , Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Malaspina
mesh_terms: D000328:Adult; D000368:Aged; D019973:Alcohol-Related Disorders / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018080:Receptors, GABA-B / Q000235:genetics* / Q000378:metabolism
chemical_list: C485503:GABBR2 protein, human; D018080:Receptors, GABA-B
keywords: AUD; GABBR1; GABBR2; SNP; Single nucleotide polymorphism