Dopamine D2 receptor gene Ser311Cys variant and schizophrenia: association study and meta‐analysis

Jönsson, Erik G.; Sillén, Anna; Vares, Maria; Ekholm, Birgit; Terenius, Lars; Sedvall, Göran

doi:10.1002/ajmg.b.20004

Cited by 55 publications

(47 citation statements)

References 60 publications

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“…Similarly, the analysis of the haplotypes did not show evidence of linkage disequilibrium between these polymorphisms and schizophrenia. Our findings for TaqI-A and Ser311Cys polymorphisms do not corroborate previous findings obtained with case-control association studies (Arinami et al, 1994(Arinami et al, , 1996 and meta-analysis (Jonsson et al, 2003a). However, they are in agreement with case-control association studies carried out in different populations (Itokawa et al, 1993;Sasaki et al, 1996;Tanaka et al, 1996;Spurlock et al, 1998;Hori et al, 2001;Himei et al, 2002).…”

Section: Discussioncontrasting

confidence: 55%

Family association study between DRD2 and DRD3 gene polymorphisms and schizophrenia in a Portuguese population

Ambrosio

Kennedy

Macciardi

et al. 2004

Psychiatry Research

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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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Section: Discussioncontrasting

confidence: 55%

Family association study between DRD2 and DRD3 gene polymorphisms and schizophrenia in a Portuguese population

Ambrosio

Kennedy

Macciardi

et al. 2004

Psychiatry Research

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“…Animal models of psychosis show that a variety of risk factors, genetic and nongenetic, are associated with behavioral supersensitivity to dopamine, reflected in elevated levels of DRD2 (Seeman, 2010). A large number of studies have also confirmed a significant association between DRD2 polymorphisms with SZ (Glatt et al, 2003;Jönsson et al, 2003).…”

Section: Introductionmentioning

confidence: 99%

“…Most patients with Cys311 showed significantly severe thought disorder and positive symptoms of schizophrenia than those with Ser311 (Arinami et al, DRD2 Ser311Cys polymorphism and schizophrenia risk 1994; Hori et al, 2001). Numerous studies have confirmed the association between DRD2 Ser311Cys polymorphism and SZ risk in Caucasian populations (Jönsson et al, 2003). However, this specific association in Asian populations remains controversial.…”

Section: Introductionmentioning

confidence: 99%

Association between Ser311Cys polymorphism in the dopamine D2 receptor gene and schizophrenia risk: a meta-analysis in Asian populations

Liu¹,

Liu²,

An³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. Numerous studies have evaluated the association between Ser311Cys (rs1801028, C>G) polymorphism of the dopamine D2 receptor (DRD2) gene and schizophrenia risk. However, the specific association is still controversial. We examined whether DRD2 Ser311Cys polymorphism confers schizophrenia risk in Asian popu- lations. Sixteen studies were retrieved reporting on a total of 2268 schizophrenia patients and 2423 healthy controls. Meta-analysis of the results showed significant associations between Ser311Cys polymorphism and schizophrenia risk in the comparisons of G versus C (odds ratio (OR) = 1.47, 95% confidence interval (CI) = 1.18-1.83, P = 0.0006) and CG+GG versus CC (OR = 1.45, 95%CI = 1.16-1.82, P = 0.001). In a subgroup analysis by nationality, we found a significant association between Ser311Cys polymorphism and schizophrenia risk in the comparisons of G versus C and CG+GG versus CC genotype in the Japanese population (OR = 1.75, 95%CI = 1.30-2.35, P = 0.0002; OR = 1.72, 95%CI = 1.27-2.33, P = 0.0004; respectively) but not in Chinese and Indian populations. In conclusion, the G allele of DRD2 Ser311Cys polymorphism involves a potential risk factor for schizophrenia in Asian populations, especially in the Japanese population.

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“…Although many genes are associated with schizophrenia (Glatt and Jonsson, 2006;Jonsson et al, 2003;Lewis et al, 2003), no single gene has emerged with major effect. Animal models of psychosis, therefore, may be helpful in identifying susceptibility genes (Ko et al, 2006;Seeman et al, 2006a;Seeman et al, 2005b).…”

Section: Introductionmentioning

confidence: 99%

Amphetamine sensitization elevates CaMKIIß mRNA

Greenstein

Novak

Seeman

2007

Synapse

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Recent studies have shown that the elevation in calcium/calmodulindependent protein kinase II (CaMKII) may play an important role in amphetamineinduced dopamine release, as well as in the increase of dopamine D2 receptor highaffinity states in psychosis. Because amphetamine sensitization is a widely used animal model of psychosis or schizophrenia, we investigated whether amphetamine sensitization results in an overall increase in the a and b subunits of CaMKII. To answer this question, we measured CaMKII a and b subunit mRNA expression using Real-Time Quantitative PCR in amphetamine-sensitized rat striata, compared to saline-treated controls. The results were then standardized to b-glucuronidase, a housekeeping gene. Our results showed a statistically significant increase in the CaMKII b subunit, and an increase in the a subunit which did not reach statistical significance. Because the levels of both CaMKIIb and CaMKIIa play a role in neuronal function and synapse formation, the present finding of an elevated level of CaMKII b and a subunit mRNA in the amphetamine-sensitized model of psychosis points to the possibility of dysregulated levels of CaMKII subunits in human psychosis. Synapse 61: 827-834, 2007.

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Dopamine D2 receptor gene Ser311Cys variant and schizophrenia: association study and meta‐analysis

Cited by 55 publications

References 60 publications

Family association study between DRD2 and DRD3 gene polymorphisms and schizophrenia in a Portuguese population

Family association study between DRD2 and DRD3 gene polymorphisms and schizophrenia in a Portuguese population

Association between Ser311Cys polymorphism in the dopamine D2 receptor gene and schizophrenia risk: a meta-analysis in Asian populations

Amphetamine sensitization elevates CaMKIIß mRNA

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