Gene Report

Basic Info
Approved Symbol DRD2
Approved Name dopamine receptor D2
Location 11q22-q23
Position chr11:113409615-113475691, -1
External Links HGNC: 3023
Entrez Gene: 1813
Ensembl: ENSG00000149295
UCSC: uc001poa.4
No. of Studies 28 (Positive: 8; Negative: 20; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 28)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Massat, I.,2002(b) Other variant: DRD2_microsatellite Our results suggest that the DRD2 microsatellite may be in linkage disequilibrium with a nearby genetic variant involved in the susceptibility to BPAD. Positive Comment on Study
Serretti, A.,2000(a) Other variant: DRD2_S311C Our results do not show that coding variants of the DRD2 S311C play a major role in conferring susceptibility to major psychoses. Negative Comment on Study
Zou, Y. F.,2010 Other variant: DRD2_S311C This meta-analysis suggests that mood disorders may not be associated with DRD2 polymorphism, Ser311/Cys311. Negative Comment on Study
Lee, S. Y.,2010 SNP: rs1800497
Haplotype: ALDH2_*1/*2 - rs1800497((ALDH2_1*1*)-(DRD2 Taq-I A1/A2)), ALDH2_*1/*2 - rs1800497((ALDH2_1*1*)-(DRD2Taq-I A1/A1))
Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders. Our findings also suggest a unique genetic distinction between bipolar I and bipolar II disorders. Positive Comment on Study
Leszczynska-Rodziewicz, A.,2005 Other variant: DRD2_141ins/del The results suggests that the studied gene variants of type D2 dopamine receptors are not promising candidate genes for bipolar affective illness. Negative Comment on Study
Squassina, A.,2011 Other variant: DRD2_TaqIA Genotype and allele frequency distributions did not differ significantly between BD patients and controls. Negative Comment on Study
Perez de Castro, I.,1995 Other variant: DRD2_(TG)n X<sup>2</sup> = 8.93, df = 3, P-value<0.05. The frequencies of the C3 allele of DRD2 gene were significantly higher in patients (0.696) than in controls (0.489) (X<sup>2</sup> = 8.62, df = 1, P-value = 0.029). After multiple correction, the C3 allele p-value = 0.086. A weak association between DRD2 gene and bipolar affective disorder is suggested Positive Comment on Study
Fallin, M. D.,2005 5 SNP typed, Median D'=0.95, Median r<sup>2</sup> =0.21, 1 LD blocks, 0.48 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP. Negative Comment on Study
Nothen, M. M., 1992 Other variant: DRD2_TaqI Polymorphism TaqI RFLP for DRD2 : X<sup>2</sup> = 1.05, p-value = 0.30;. The results of this study do not support the hypothesis that a single mutant form of either the dopamine D1 or the dopamine D2 receptor gene is responsible for the phenotype of all or an appreciable proportion of patients from the general population who are suffering from bipolar affective disorder. Negative Comment on Study
De bruyn, A.,1994 Other variant: DRD2_TaqI Polymorphism Two-point linkage results excluded close linkage of bipolar illness to each candidate gene, and negative linkage results were obtained with the candidate genes DRD4, TH, TYR, and DRD2 under different genetic and phenotypic conditions Negative Comment on Study
Mitchell, P.,1992 Other variant: DRD2_RFLP This study excluded close linkage between the DRDl , DRD2 and bipolar disorder. Negative Comment on Study
Holmes, D.,1990 Other variant: DRD2_RFLP Mutations at loci in this region are not a common cause of manic depression in the population studied Negative Comment on Study
Huang, C. C.,2012 Other variant: DRD2/ANKK1_Taq-IA DRD2 Taq-IA A1/A1: logistic Regression P-value=0.18, OR=2.17, 95% CI=0.70-6.77 in BPI, P-value=0.13, OR=2.26, 95% CI=0.79-6.46 in BPII; DRD2 Taq-IA A1/A2: logistic Regression P-value=0.38, OR=0.83, 95% CI=0.34-2.03 in BPI, P-value=0.58, OR=1.24, 95% CI=0.57-2.70 in BPII. Negative Comment on Study
Savoye, C., 1998 Other variant: D2_Taq1 Single mutations of either of the studied receptor genes are not major determinants of MDI. Negative Comment on Study
Wang, T. Y., 2013 SNP: rs1800497 We provide preliminary evidence for a gender-specific effect of the SLC6A4 and DRD2 gene variants for the risk of BP-I and of BP-II. We also found gender-specific interaction between 5-HTTLPR and DRD2 Taq-IA polymorphisms in patients with bipolar disorder. Positive Comment on Study
Wang, Y. S., 2013 a significant interaction of the DRD2 Taq-I A1/A1 and the ALDH2*1*1 genotypes in BP-II without AD was revealed compared with normal controls Positive Comment on Study
Szczepankiewicz, A., 2007 Other variant: DRD2_-151ins/del We have not found any significant differences in genotype distribution of the polymorphisms of this dopamine gene between bipolar disorder patients with/without comorbid alcohol abuse and controls. Negative Comment on Study
Hu, M. C.,2012 Other variant: DRD2_TaqI Polymorphism The MAOA-uVNTR 3-repeat had a significant protective effect on the ALC+BP (odds ratio=0.432, p=0.035) but not on the healthy controls. However, the interaction between the MAOA-uVNTR 3-repeat and DRD2 A1/A2 was a risk factor in the ALC+BP (odds ratio=3.451, p=0.018). CONCLUSIONS: We indicated the impact of the association between MAOA-uVNTR 3-repeat and DRD2 A1/A2 with ALC+BP. Positive Comment on Study
Furlong, R. A., 1998 (b) Other variant: DRD2_-141CIns/Del These results do not support a major role for the DRD2 gene in the etiology of either bipolar or unipolar affective disorders. Negative Comment on Study
Stober, G., 1998 Other variant: DRD2_5'flanking_-141C Ins/Del Our findings indicate that the 2141C Del variant in the 59 flanking region of the human dopamine D2 receptor gene is unlikely to play a substantial role in genetic predisposition to major psychiatric disorders in Caucasians. Negative Comment on Study
Manki, H.,1996 Other variant: DRD2_S311C Our results suggest that there is a significant association between the dopamine D4 receptor gene and mood disorders, especially major depression, but no association between the other polymorphisms and mood disorders. Negative Comment on Study
Li, T.,1999 Other variant: DRD2_141ins/del, DRD2_TaqIA, DRD2_S311C We found association between a functional DRD2 promoter variant (P = 0.03 by allele) and the DRD2 taq1A polymorphism (P = 0.001 by allele) in Chinese bipolar disorder patients. Positive Comment on Study
Souery, D.,1996(b) Other variant: DRD2_(CA)n Association and linkage disequilibrium were excluded between bipolar affective disorder and these four candidate genes in our sample. Negative Comment on Study
Sasaki, T.,1996 Other variant: DRD2_S311C Our results do not provide evidence for an association between this D2 receptor variant and schizophrenia, or delusional disorder, or bipolar affective disorder. Negative Comment on Study
Hamshere, M. L.,2012 Other variant: DRD2_TaqIA The significant interaction effect for the Val/Val genotype of the BDNF Val66Met polymorphism and A1/A2 genotype of DRD2/ANKK1 Taq1A polymorphism was found only in BP-II patients. We provide initial evidence that the BDNF Val66Me and DRD2/ANKK1 Taq1A polymorphisms interact only in BP-II disorder and that BP-I and BP-II are genetically distinct. Positive Comment on Study
Serretti, A.,2000(b) Other variant: DRD2_polymorphism The D2 and D3 dopamine receptors were, therefore, not a major liability factor for mood disorders in our sample. Negative Comment on Study
Kirov, G.,1999(a) Other variant: DRD2_141ins/del No statistically significant differences were found between transmitted and not transmitted alleles for any of the polymorphisms studied. Negative Comment on Study
Bocchetta, A.,1999 Other variant: DRD2_intron 1_(TG)n Using TDT, no significant differences were found with regard to DRD2 polymorphism. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 109)

GO terms by PBA (count: 3)

GO terms by database search (count: 106)

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

Gene related interactors from protein-protein interactions data in HPRD (count: 16)

Related other genetic factors
Gene related SNPs (count: 29)

Literature-origin SNPs (count: 1)

LD-proxies (count: 28)

Gene related CNVs (count: 0)

Gene related other variants (count: 15)

Gene related regions (count: 3)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 4)

Overlap with SZ from candidate gene intersection analysis (count: 69)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 6)

Overlap with MDD from candidate gene intersection analysis (count: 3)

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Region: chr11:113409615..113475691 View in gBrowse
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