141C Ins/Del polymorphism of the dopamine D2 receptor gene is associated with schizophrenia in a Spanish population

Autor: Anna Crescenti, Vanessa Sanchez, Patricia Gassó, Monica Aparici, Javier Goti, Xavier Carné, Miquel Bernardo, Amalia Lafuente, Sergi Mas, Rosa Catalán
Rok vydání: 2008
Předmět:
Zdroj: Psychiatric Genetics. 18:122-127
ISSN: 0955-8829
Popis: 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. Conclusion 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.
Databáze: OpenAIRE