title: Association between AUTS2 haplotypes and alcohol dependence in a Japanese population.
abstract: OBJECTIVE
  Recent genome-wide analysis has indicated that the autism susceptibility candidate 2 (AUTS2) gene is involved in the regulation of alcohol consumption. We hypothesised that AUTS2 might be associated with the development of alcohol dependence. Therefore, in this exploratory study, we compared the genotype and allele frequencies of the polymorphisms rs6943555 and rs9886351 in the AUTS2 gene between patients with alcohol dependence and healthy control subjects living in a Japanese provincial prefecture. We also examined whether or not the haplotypes consisting of these polymorphisms are related to alcohol dependence.
  
  
  METHODS
  The subjects of this study consisted of 64 patients with alcohol dependence and 75 unrelated healthy people. The AUTS2 genotypes were determined by the polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method.
  
  
  RESULTS
  No significant differences in the genotype and allele frequencies of the polymorphisms AUTS2 rs6943555 and rs9886351 were found between alcohol dependence and control subjects. On the other hand, the frequencies of the AUTS2 haplotypes were significantly different between them, and the rs6943555 and rs9886351 A-A haplotype was associated with alcohol dependence (p=0.0187).
  
  
  CONCLUSIONS
  This suggests that the rs6943555 and rs9886351 A-A haplotype might affect the vulnerability to alcohol dependence pathogenesis. Further studies are needed to confirm the reproducibility of the results of this study with increased numbers of subjects.
authors.affiliation: 1Laboratory of Physiology (Project of Neurophysiology),Course of Environmental Health Science,Graduate School of Environmental Health,Azabu University,Sagamihara-shi,Kanagawa,Japan.
authors.forename: Shin
authors.initials: S
authors.lastname: Narita
authors.affiliation: 2Department of Anatomy,Tokyo Medical University,Shinjuku-ku,Tokyo,Japan.
authors.forename: Kenta
authors.initials: K
authors.lastname: Nagahori
authors.affiliation: 3Addictive Substance Project,Tokyo Metropolitan Institute of Medical Science,Setagaya-ku,Tokyo,Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Nishizawa
authors.affiliation: 1Laboratory of Physiology (Project of Neurophysiology),Course of Environmental Health Science,Graduate School of Environmental Health,Azabu University,Sagamihara-shi,Kanagawa,Japan.
authors.forename: Eiji
authors.initials: E
authors.lastname: Yoshihara
authors.affiliation: 4Koutokukai Total Health Clinic,Yamagata,Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Kawai
authors.affiliation: 3Addictive Substance Project,Tokyo Metropolitan Institute of Medical Science,Setagaya-ku,Tokyo,Japan.
authors.forename: Kazutaka
authors.initials: K
authors.lastname: Ikeda
authors.affiliation: 1Laboratory of Physiology (Project of Neurophysiology),Course of Environmental Health Science,Graduate School of Environmental Health,Azabu University,Sagamihara-shi,Kanagawa,Japan.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Iwahashi
mesh_terms: D000328:Adult; D000368:Aged; D000437:Alcoholism / Q000235:genetics*; D054458:Amplified Fragment Length Polymorphism Analysis / Q000379:methods; D044466:Asian People / Q000235:genetics*; D003598:Cytoskeletal Proteins; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D014157:Transcription Factors
chemical_list: C554283:AUTS2 protein, human; D003598:Cytoskeletal Proteins; D011506:Proteins; D014157:Transcription Factors
keywords: alcohol dependence; autism susceptibility candidate 2; gene polymorphism; haplotype