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Updated: Aug 1, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Family association study between DRD2 and DRD3 gene polymorphisms and schizophrenia in a Portuguese population
Alda M Ambrósio1, James L Kennedy, Fabio Macciardi
1Department of Neurochemistry, Faculty of Medicine, Center for Neuroscience of Coimbra, University of Coimbra, 3004-517 Coimbra, Portugal. aldachico@yahoo.com
Abstract:
Schizophrenia is a highly heritable condition, as demonstrated in family, twin and adoption studies. Candidate genes from the dopaminergic system have long been hypothesized to be involved in the etiology of this disorder. In the present study, we investigated the genetic association between polymorphisms in the D2 and D3 dopamine receptor (DRD2, DRD3) genes and schizophrenia. We examined 90 trios from Portugal, and negative results were obtained from association studies with both Haplotype Relative Risk (HRR) and Transmission Disequilibrium Test (TDT), as well as TRANSMIT. Therefore, we conclude that neither the DRD2 nor the DRD3 gene polymorphisms investigated are associated with schizophrenia in our sample.
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