title: -141C Ins/Del polymorphism of the dopamine D2 receptor gene is associated with schizophrenia in a Spanish population.
abstract: OBJECTIVE
  In this study we examined the relationship between dopamine D2 receptor (DRD2) polymorphisms (TaqIA, TaqIB, -141C Ins/Del) and dopamine D3 receptor (DRD3) Ser9Gly polymorphism and the risk of schizophrenia in a Spanish population.
  
  
  METHODS
  Two hundred and forty-three schizophrenia patients and 291 healthy controls from the general population participated in a case-control study.
  
  
  RESULTS
  No significant differences were observed in the allele or genotype frequencies of TaqIA, TaqIB or Ser9Gly polymorphisms between the schizophrenia patients and the healthy controls. The frequency of the -141C Del allele was significantly lower in the former group (odds ratio=0.4, P=0.01). The -141C Del allele, which produces lower expression of DRD2, may protect against dopaminergic hyperactivity in schizophrenia.
  
  
  CONCLUSIONS
  This study is one of the few studies of Caucasian participants that supports the results obtained in the original Japanese study, in which the -141C Ins/Del polymorphism was first described. Furthermore, our findings reinforce the hypothesis that excess dopaminergic activity leads to schizophrenia.
authors.affiliation: Pharmacology Department, School of Medicine, IDIBAPS, University of Barcelona, Casanova 143, Barcelona, Spain. amalialafuente@ub.edu
authors.forename: Amalia
authors.initials: A
authors.lastname: Lafuente
authors.forename: Miquel
authors.initials: M
authors.lastname: Bernardo
authors.forename: Sergi
authors.initials: S
authors.lastname: Mas
authors.forename: Anna
authors.initials: A
authors.lastname: Crescenti
authors.forename: Monica
authors.initials: M
authors.lastname: Aparici
authors.forename: Patricia
authors.initials: P
authors.lastname: Gassó
authors.forename: Javier
authors.initials: J
authors.lastname: Goti
authors.forename: Vanessa
authors.initials: V
authors.lastname: Sanchez
authors.forename: Rosa
authors.initials: R
authors.lastname: Catalan
authors.forename: Xavier
authors.initials: X
authors.lastname: Carne
mesh_terms: D017677:Age Distribution; D000483:Alleles; D016022:Case-Control Studies; D003596:Cytosine; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D011110:Polymorphism, Genetic; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D012907:Smoking / Q000235:genetics; D013030:Spain; D044465:White People / Q000235:genetics*
chemical_list: D017448:Receptors, Dopamine D2; D003596:Cytosine