scholarly journals Association between the DRD2-141C Insertion/Deletion polymorphism and schizophrenia

2009 ◽  
Vol 67 (2a) ◽  
pp. 191-194 ◽  
Author(s):  
Quirino Cordeiro ◽  
Jacqueline Siqueira-Roberto ◽  
Stevin Zung ◽  
Homero Vallada

Epidemiological studies have demonstrated that the genetic component is an important risk factor for the development of schizophrenia. The genes that codify the different compounds of the dopaminergic system have created interest for molecular investigations in patients with schizophrenia because the antipsychotic drugs, especially those of first generation, act on this cerebral system. Thus the aim of the present study was to investigate the possible association between the -141 Ins/Del (rs1799732) polymorphism of the dopamine receptor type 2 (DRD2) and schizophrenia. The distribution of the alleles and genotypes of the studied polymorphism was investigated in a sample of 229 patients and 733 controls. There were statistical differences in the allelic (χ2=9.78; p=0.001) and genotypic genotypic (χ2=12.74; p=0.001) distributions between patients and controls. Thus the -141C Ins/Del polymorphism of the DRD2 gene (allele Ins) was associated to the SCZ phenotype in the investigated sample.

2010 ◽  
Vol 68 (5) ◽  
pp. 716-719 ◽  
Author(s):  
Quirino Cordeiro ◽  
Jacqueline Siqueira-Roberto ◽  
Homero Vallada

Epidemiological studies have demonstrated that the genetic component is an important risk factor for the development of schizophrenia. The genes that codify the different compounds of the dopaminergic system have created interest for molecular investigations in patients with schizophrenia because the antipsychotic drugs, especially those of first generation, act on this cerebral system. Thus the aim of the present study was to investigate the possible association between a new single nucleotide polymorphism (rs6347) located in exon 9 of the protein transporter (SLC6A3) and schizophrenia. The distribution of the alleles and genotypes of the studied polymorphism was investigated in a sample of 235 patients and 834 controls matched by gender and age. There were statistical differences in the allelic (χ2=5.97, 1d.f. , p=0.01, OR=1.33-1.05<OR<1.69) and genotypic (χ2=6.56, 2d.f. , p=0.03) distributions between patients and controls. Thus the SLC6A3 A1343G polymorphism was associated to the SCZ phenotype in the investigated sample.


2016 ◽  
Author(s):  
Erika Peverelli ◽  
Elena Giardino ◽  
Donatella Treppiedi ◽  
Marco Locatelli ◽  
Valentina Vaira ◽  
...  

2005 ◽  
Vol 20 (1) ◽  
pp. 15-27 ◽  
Author(s):  
Anissa Abi-Dargham ◽  
Marc Laruelle

AbstractMultiple lines of evidence including recent imaging studies suggest that schizophrenia is associated with an imbalance of the dopaminergic system, entailing hyperstimulation of striatal dopamine (DA) D2 receptors and understimulation of cortical DA D1 receptors. This DA endophenotype presumably emerges from the background of a more general synaptic dysconnectivity, involving alterations in N-methyl-d-aspartate (NMDA) and glutamatergic (GLU) functions. Equally important is the fact that this DA dysregulation might further impair NMDA transmission. The first generation antipsychotic (FGA) drugs are characterized by high affinity to and generally high occupancy of D2 receptors. The efficacy of FGAs is limited by a high incidence of extrapyramidal side-effects (EPS). Second generation antipsychotic (SGA) drugs display reduced EPS liability and modest but clinically significant enhanced therapeutic efficacy. Compared to FGAs, the improved therapeutic action of SGAs probably derives from a more moderate D2 receptor blockade. We will review the effects of SGAs on other neurotransmitter systems and conclude by highlighting the importance of therapeutic strategies aimed at directly increasing prefrontal DA, D1 receptor transmission or NMDA transmission to enhance the therapeutic effect of moderate D2 receptor antagonism.


2016 ◽  
Vol 381 (2) ◽  
pp. 279-286 ◽  
Author(s):  
E. Peverelli ◽  
E. Giardino ◽  
D. Treppiedi ◽  
M. Locatelli ◽  
V. Vaira ◽  
...  

Author(s):  
Farina Hanif ◽  
Qurat-ul-Ain Amir ◽  
Washdev Washdev ◽  
Fareena Bilwani ◽  
Shabana Usman Simjee ◽  
...  

Hypertension ◽  
2001 ◽  
Vol 38 (3) ◽  
pp. 303-308 ◽  
Author(s):  
Xiao Xi Li ◽  
Martin Bek ◽  
Laureano D. Asico ◽  
Zhiwei Yang ◽  
David K. Grandy ◽  
...  

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