title: The association of DRD2 -141C and ANKK1 TaqIA polymorphisms with alcohol dependence in Korean population classified by the Lesch typology.
abstract: OBJECTIVE
  Dopamine receptors are associated with reward and dependence towards alcohol. The polymorphisms of dopamine D2 receptor (DRD2) genes have been reported to be involved in susceptibility to alcoholism. Therefore, we investigated the association of three single-nucleotide polymorphisms (SNPs) in DRD2 and ankyrin repeat and kinase domain containing one (ANKK1) genes with alcohol dependence in Korean subjects, who were classified by the criteria of the Lesch typology.
  
  
  METHODS
  The DRD2 -141C (Insertion (Ins)/Deletion (Del)), exon8 (A/G) and the ANKK1 TaqIA (A1/A2) polymorphisms were genotyped in a case-control sample consisting of 245 alcohol-dependent (AD) patients and 110 healthy controls. AD patients were classified into four subtypes by the Lesch typology. The majority of them (77.1%) were Lesch type 1. Differences in genotype and allele frequencies were examined between the AD patients and the controls. Also those analyses were done between the Lesch type 1 group and the controls.
  
  
  RESULTS
  There were significant differences in the genotype and allele frequencies of -141C Ins/Del and TaqIA A1/A2 between the AD patients and the controls. However, there were no significant differences in genotype or allele frequencies of exon8 A/G between the AD patients and the controls. The -141C Ins/Ins and TaqIA A1+ variants were associated with Lesch type 1 AD patients. When analysing haplotypes of three SNPs, the odds ratio of -141C Ins-A-A1 was 2.286, while the odds ratio of -141C Del-G-A2 was 0.323.
  
  
  CONCLUSIONS
  The present study showed a significant difference in DRD2 -141C and ANKK1 TaqIA polymorphisms between the AD patients and the controls. Our findings suggest that -141C Ins and TaqIA A1 alleles can be a predisposing factor for alcohol dependence in the Korean population.
authors.affiliation: Department of Psychiatry, Gangnam Eulji Hospital, Eulji University, 59 Nonhyeondong, Gangnamgu, Seoul 135-010, Republic of Korea. lee.bunhee@gmail.com
authors.forename: So Hee
authors.initials: SH
authors.lastname: Lee
authors.forename: Bun-Hee
authors.initials: BH
authors.lastname: Lee
authors.forename: Jun-Seok
authors.initials: JS
authors.lastname: Lee
authors.forename: Young Gyu
authors.initials: YG
authors.lastname: Chai
authors.forename: Mi Ran
authors.initials: MR
authors.lastname: Choi
authors.forename: Dal Mu Ri
authors.initials: DM
authors.lastname: Han
authors.forename: Hong
authors.initials: H
authors.lastname: Ji
authors.forename: Gyeong-Ho
authors.initials: GH
authors.lastname: Jang
authors.forename: Hye Eun
authors.initials: HE
authors.lastname: Shin
authors.forename: Ihn Geun
authors.initials: IG
authors.lastname: Choi
mesh_terms: D000328:Adult; D000437:Alcoholism / Q000175:diagnosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017448:Receptors, Dopamine D2 / Q000235:genetics*
chemical_list: C581293:DRD2 protein, human; D017448:Receptors, Dopamine D2; C489948:ANKK1 protein, human; D017346:Protein Serine-Threonine Kinases