Gene Report

Basic Info
Approved Symbol DRD1
Approved Name dopamine receptor D1
Location 5q34-q35
Position chr5:175440039-175444208, -1
External Links HGNC: 3020
Entrez Gene: 1812
Ensembl: ENSG00000184845
UCSC: uc003mcz.3
No. of Studies 11 (Positive: 6; Negative: 5; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 11)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Szczepankiewicz, A., 2007 Other variant: DRD1_-48A/G 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
Del Zompo, M., 2007 Haplotype: DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800T/-48A/1403T), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800T/-48A/1403C), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800T/-48G/1403T), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800T/-48G/1403C), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800C/-48A/1403T), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800C/-48A/1403C), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800C/-48G/1403T), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800C/-48G/1403C)
Other variant: DRD1_1403T/C, DRD1_-48A/G, DRD1_-800T/C
The results further support the role of DRD1 as a susceptibility gene for BP type I Positive Comment on Study
Ni, X.,2002 Haplotype: (DRD1_-800T/C) - (DRD1_-48A/G) - (DRD1_1403T/C)()
Other variant: DRD1_1403T/C, DRD1_-48A/G, DRD1_-800T/C
These results indicate that DRD1 may play a role in the etiology of bipolar disorder. Positive Comment on Study
Severino, G.,2005 Other variant: DRD1_-48A/G In conclusion, in spite of the small size of the sample examined and the need of replication in other types of population, our study suggests that the D1 receptor gene may play a role in the etiology of BP I disorder. Positive Comment on Study
Fallin, M. D.,2005 2 SNP typed, Median D'=1, Median r<sup>2</sup> =0.99, 1 LD blocks, 0.36 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: DRD1_EcoRI Polymorphism EcoRI RFLP for DRD1 : X<sup>2</sup> = 0.17, p-value = 0.68; . 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
Mitchell, P.,1992 Other variant: DRD1_RFLP This study excluded close linkage between the DRDl , DRD2 and bipolar disorder. Negative Comment on Study
Yao, J., 2013 SNP: rs4532 Although our study had the a fore-mentioned limitations, we reported that the GG genotype of rs4532 locus in DRD1 gene was associated with an increased risk of bipolar disorder. Positive Comment on Study
Zhang, J., 2013 SNP: rs4532 Meta-analysis shows dopamine receptor D1 gene polymorphism is associated with bipolar disorder but not with schizophrenia. Positive Comment on Study
Dmitrzak-Weglarz, M., 2006 Other variant: DRD1_-48A/G The main finding of this study is an association trend of the G/G genotype and G allele with illness in the whole group of bipolar affective disorder patients and a significant association in the subgroup of patients with bipolar disorder type II. After division by gender, this was particularly evident in female patients. Positive Comment on Study
Savoye, C., 1998 Other variant: D1_EcoR1, D1_Taq1 Single mutations of either of the studied receptor genes are not major determinants of MDI. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 58)

GO terms by PBA (count: 4)

GO terms by database search (count: 54)

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

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: 10)

Related other genetic factors
Gene related SNPs (count: 10)

Literature-origin SNPs (count: 3)

LD-proxies (count: 7)

Gene related CNVs (count: 0)

Gene related other variants (count: 7)

Gene related regions (count: 1)

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: 14)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr5:175440039..175444208 View in gBrowse
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