Recombinant Human Dopamine beta-hydroxylase(DBH)

1. Most DBH polymorphisms from the currently available loci showed no linkage to Alzheimer's disease, Parkinson's disease, and schizophrenia, indicating the lower possibility of these loci serving as genetic markers of the risks of diseases with neurodegenerative characteristics. On the other hand, the DBH rs2283123 and rs2007153 polymorphisms could have opposite effects on schizophrenia development in Caucasians PMID: 30453293
2. The findings of this study confirmed a strong association between genotype at rs1611115 and pDbetaH activity in Chinese patients with schizophrenia. Our data also suggest the rs1108580 polymorphism may influence some aspects of cognitive function in schizophrenia. PMID: 28647493
3. Its single-nucleotide polymorphisms involves in dopaminergic metabolism and motor and cognitive function in older adults PMID: 29525179
4. This study demonstrate the genetic influence of a family history of alcohol use disorders and DAT and DBH gene polymorphisms on the risk of withdrawal seizures and delirium tremens. PMID: 28139629
5. Homospecific activity computed for the WT of DBH and variant proteins showed a marginal decrease in A318S, W544S and R549C variants PMID: 28707163
6. This study indicated that DBH5'-Ins/Del polymorphism may not play a role in the susceptibility to tardive dyskinesia and cognitive deficits in schizophrenia with tardive dyskinesia. PMID: 27776953
7. DRD2 A2/A1, DRD3 Ser9Gly, DbetaH -1021C>T, OPRM1 A118G and GRIK1 rs2832407C>A are not associated with alcoholism alone or in interaction. PMID: 27447243
8. Results suggest that interference of cannabis and cocaine with cognitive impulse control and functional corticostriatal connectivity depends on DBH genotype. PMID: 26667034
9. Dopamine beta-Hydroxylase Deficiency is associated with Hyperinsulinemia and Insulin Resistance. PMID: 27778639
10. Dopamin Beta Hydroxylase gene +1603C > T polymorphism may be one of the many genetic factors for migraine susceptibility in the Turkish population. PMID: 26868704
11. The genotype and allele distribution frequencies in rs1611115 were different between Parkinson's disease patients and the healthy control. The TT genotype may lead to a 2.95 times higher risk of Parkinson's disease occurrence compared with the common genotype CC. DBH rs1611115 polymorphism was likely to be associated with the susceptibility to PD, but we did not find that rs732833 is a susceptibility marker PMID: 27177268
12. Results suggest that the DBH gene may play an important role in the occurrence of schizophrenia (SCZ). Also, rs1611114 may be associated with SCZ susceptibility and related clinical symptoms in the Chinese Zhuang but not Han Chinese population. PMID: 27236774
13. Study found that the functional T allele in DBH SNP rs1611115, which reduces the conversion of dopamine to norepinephrine, corresponds with different BOLD-signal changes in responses to gambling, drug or sad cues in individuals with and without pathological gambling PMID: 27194378
14. This study demonstrated that the association between DbetaH genotype (C1021T), early onset of conduct disorder and psychopathic traits in juvenile delinquents. PMID: 26616837
15. We report the crystal structure of human dopamine b-hydroxylase, which is the enzyme converting dopamine to norepinephrine. The structure of the DOMON (dopamine b-monooxygenase N-terminal) domain, also found in 1600 other proteins, reveals a possible metal-binding site and a ligand-binding pocket PMID: 27152332
16. The p.Val26Met variant in the dopamine beta-hydroxylase gene at 9q34.2 was associated with Lung Cancer. PMID: 26762739
17. A DBH gene variant, rs129882, which confers risk to attention deficit hyperactivity disorder, is also associated with reduced in vitro gene expression. PMID: 25975715
18. No significant association was found between the DbetaH 5'-Ins/Del polymorphism and patients with chronic schizophrenia. PMID: 26891013
19. This study finding significant excess of rare nonsynonymous variants exclusive to European Americans smokers in DBH. PMID: 25450229
20. did not find a significant association of rs1611115 with PTSD risk [meta-analysis] PMID: 26986136
21. Reported is the construction of a tissue engineered intervertebral disc with high biological activity using an allogeneic intervertebral disc supplemented with transfected nucleus pulposus cells expressing exogenous dopamine beta-hydroxylase. PMID: 26400296
22. There was no significant relationship between Migraine susceptibility and genetic polymorphisms of DBH. PMID: 26632697
23. Results suggest that the DBH5'-Ins/Del polymorphism may not contribute directly to the development of tardive dyskinesia in schizophrenia, but it may be involved in the excited behavior of tardive dyskinesia patients PMID: 25336319
24. C-1021T polymorphism not associated with orthostatic hypotensive risk in a Chinese population PMID: 24990418
25. this study shows the influence of 444 G/A (rs 1108580) and -1021 C/T (rs 1611115) polymorphisms of the dopamine beta-hydroxylase (DBH) gene on clinical parameters of the trajectory of alcohol dependence. PMID: 26356164
26. Identification of DBH variants with strong effects makes it possible to take advantage of Mendelian randomization approaches to test causal effects of this intermediate trait on disease. PMID: 24986918
27. DBH5'-Ins/Del and -1021C/T polymorphism in promoter region of DBH gene was associated with major depressive disorder. PMID: 24888991
28. The genetic polymorphism in dopamine beta-hydroxylase is associated with methamphetamine-induced paranoia and influences smoking initiation. PMID: 24521142
29. This study demonstrated the importance of DBH -1021C/T as a genetic basis of empathy and in predicting individual differences in social and affective processing. PMID: 23988761
30. Demonstrate profound effects of DBH variants on expression in 2 sympathetically innervated organs, liver and lung, and association of these variants with clinical phenotypes responsive to peripheral sympathetic tone. PMID: 25326128
31. An association between dopamine-beta hydroxylase (DBH) promoter polymorphisms (a 5'-ins/del and a GTn repeats) and a history of suicide attempt in 223 chronic schizophrenia individuals, was studied. PMID: 24710129
32. This study demonistrated that the Polymorphisms of dopamine beta hydroxylase is not not associated with Alzheimer's disease. PMID: 24201835
33. Individuals with the normal DbetaH activity genotype (CC) showed no differential response to levodopa treatment for cocaine dependence PMID: 24809448
34. role for DBH promoter variation in long-term renal decline rate PMID: 24391727
35. Data suggest that the interaction of single nucleotide polymorphism (SNP) of interleukin-10 (IL-10) and and dopamine beta-hydroxylase (DBH) may play a role in the general symptoms on PANSS in schizophrenic patients with Tardive dyskinesia (TD). PMID: 23951054
36. This study show DBH5'-ins/del heterozygotes (associated with average level of plasma DbetaH activity) showed increased post-error slowing compared to del/del homozygotes and ins/ins homozygotes (associated with low and high level of plasma DbetaH activity. PMID: 23962674
37. This study presents evidence for a potentially functional DBH variant influencing the risk for alcohol dependence while other comorbid conditions are not independently influenced PMID: 23906995
38. These results suggested that dopamine beta hydroxylase gene (DBH) might be related to attention-deficit hyperactivity disorder (ADHD)symptoms in korean children. PMID: 23692268
39. This study identified that the DBH5'-Ins/Del polymorphism may contribute to the susceptibility to first-episode schizophrenic patients. PMID: 23707643
40. genetic association studies in the Netherlands: Data suggest that an SNP in DBH (rs2519152) is associated with attention deficit disorder with hyperactivity (but not substance abuse disorders). [PILOT STUDY] PMID: 22841130
41. although the DBH 5'-Ins/Del polymorphism was not associated with susceptibility to TD in patients with schizophrenia, it might be related to positive symptoms of schizophrenia PMID: 23559427
42. This study showed genotypes-independent decrease in pDBH activity in patients with AD compared to enzyme activity in age-matched healthy controls. We did not confirm the association of low activity T allele variant of the DBH C-970T and alzheimer disease. PMID: 23416088
43. the dopamine beta-hydroxylase (DBH) polymorphism (DBH -1021C/T) that is associated with low DbetaH levels also was associated with greater improvement in cocaine positive urines in the vaccine-treated group. PMID: 23458673
44. -1021TT genotype may be implicated with a more progressive nature of heroin addiction, although DBH -1021C/T is unlikely to be involved in the risk of heroin addiction. PMID: 23510745
45. DBH rs7239728 imparted significant migraine risk at genotypic, allelic & carrier analyses. 2 genotype interactions between ANKK1 rs1800497 & DBH rs72393728 polymorphisms showed significant risks. PMID: 22875483
46. DBH and MAOA can influence human attentional biases, and there is a gene-gene interaction between the DBH and MAOA on attentional bias for negative expressions. PMID: 23054588
47. the DBH genotype of a patient could be used to identify a subset of individuals for which disulfiram treatment might be an effective pharmacotherapy for cocaine dependence. PMID: 22906516
48. The 1603C>T polymorphism of the DBH gene is associated with susceptibility to bipolar disorder in a Turkish population. PMID: 23384717
49. The distribution of AA genotype and A allele frequencies of rs5320 in the dopamine beta-hydroxylase gene in ADHD children differed significantly from that in healthy controls. PMID: 22895683
50. These results suggest that the DBH 5'-Ins/Del polymorphism may influence smoking severity among schizophrenic smokers. PMID: 22871345
51. 1021CT SNP of the DBH Gene along with the COMT gene was typed in 171 of 196 SIDS cases but also in 213 of 244 controls. Further study of the noradrenergic system is needed as a modulator for SIDS. PMID: 22765285
52. study found that carrying the low DBH activity T allele of rs1611115, located in the promoter region of the DBH gene, is associated with an increased risk of adverse events in alcohol-dependent patients treated with disulfiram PMID: 22760354
53. results indicate that a gene that regulates relative prefrontal cortex dopamine availability, DBH, can identify those individuals who are less susceptible to bias in using computerized decision-aiding systems PMID: 22761865
54. This study shows that Dopamine beta hydroxylase (DBH) rs5320 polymorphism influences nicotine dependence. PMID: 22513716
55. This study demonistrated that DBH5'-Ins/Del polymorphism may play a role in susceptibility to the positive symptoms of FES and to these FES not progressing on to chronic schizophrenia. PMID: 22445279
56. The individuals who carry A2A2 genotype and A2 allele of DBH have increased risk of neurological dysfunction after exposure to manganese during welding. PMID: 21126477
57. evaluated the potential association of four variants of dopaminergic candidate genes in RDS (dopamine D1 receptor gene [DRD1]; dopamine D2 receptor gene [DRD2]; dopamine transporter gene [DAT1]; dopamine beta-hydroxylase gene [DBH]). PMID: 22408582
58. The largely spared neurocognitive function in DbetaH-deficient patients suggests that other neuromodulators have taken over the function of norepinephrine in the brains of these patients. PMID: 21471955
59. structural and functional insight of DBH throught in silico model PMID: 22028891
60. DBH genotype significantly associates with reaction times of incongruent color word parts but not the interference times, with TT genotype performing significantly better in both reaction time and interference time than other two genotype groups. PMID: 21761554
61. in DBH 19 bp indel polymorphism, a significant association was seen at allelic level especially in females on comparing migraine patients with controls; study suggests potentially significant role of DBH 19 bp indel polymorphism in migraine susceptibility PMID: 21668745
62. DBH encodes a protein that oxidizes dopamine resulting in norepinephrine synthesis. PMID: 21538940
63. The present results provide the first direct evidence for linkage between dopamine beta-hydroxylase and plasma dopamine beta-hydroxylase, with rs1611115, rs1611122, rs6271 and additional unidentified variants contributing to the genetic regulation. PMID: 21509519
64. Our study suggests the possible involvement of genetic polymorphisms in DBH in the regulation of blood pressure and plasma uric acid. PMID: 20931244
65. No associations between serum dopamine beta-hydroxylase and post-traumatic stress disorder diagnosis are found in a sample of civilians' serum compared to that of combat veterans. PMID: 20621148
66. The polymorphisms within the dopamine transporter gene (DAT1/SLC6A3), the dopamine receptor D2 gene and the dopamine beta-hydroxylase gene (DBH) in a Spanish sample of patients with cocaine addiction and sex-matched controls, were investigated. PMID: 20505554
67. Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. PMID: 21209083
68. DBH promoter variant seems to initiate a cascade of transcriptional and biochemical changes including augmented DBH secretion, eventuating in elevation of basal BP, and hence cardiovascular risk. PMID: 20814407
69. Dopamine beta-hydroxylase C/T polymorphism is associatetd with risk of Alzheimer diseae. PMID: 21070631
70. Results suggest that dopamine beta-hydroxylase gene polymorphisms have some role in the etiology of ADHD in eastern Indian population. PMID: 19757024
71. This study reported a significant association between DBH and a perceptual measure of spatial bias in healthy adults. PMID: 20430042
72. A highly significant association of dopamine beta-hydroxylase (DBH) haplotypes with Parkinson's disease was observed. PMID: 20498626
73. No association of the polmorphisms Arg492Cys (ADRA1A gene), Ser49Gly and Arg389Gly (ADRB1), Arg16Gly and Gln27Glu (ADRB2), 825C/T (GNB3), -1021C/T (DBH) and S/L (SLC6A4) with both tilt test outcomes and new syncopal episodes was found PMID: 20129829
74. There is an association between DBH gene and ADHD comorbid with or without DBD, but the preferential transmission alleles are different PMID: 15796803
75. Data show that dopamine beta hydroxylase activity is statistically significantly decreased in non-treated depressive disorder and ADHD in children and adolescents. PMID: 20035263
76. A common DBH promoter variant C-970T plays a role in the pathogenesis of human essential hypertension. PMID: 20009769
77. Seven novel variants including four potentially pathogenic mutations in the human DBH gene (OMIM 223360) from analysis of two norepinephrine deficiency patients. PMID: 11857564
78. The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status PMID: 11943777
79. single nucleotide polymorphism in smokers PMID: 12360111
80. Allelic and haplotype distributions of two polymorphisms suggest that the DBH gene is not a causative factor in schizophrenia but that it may be a modulator of psychotic symptoms, severity of the disorder and therapeutic response to neuroleptic drugs. PMID: 12555232
81. susceptibility loci at the DBH for attention deficit disorder with hyperactivity. PMID: 12660802
82. results indicate that the DBH TaqI A allele, or another polymorphism in linkage disequilibrium with this allele, may confer increased susceptibility towards ADHD. PMID: 12707943
83. Linkage disequilibrium at the DBH locus strongly influences the magnitude of association between diallelic markers and plasma DBH activity. PMID: 12730829
84. Genetic variants of the DBH gene are not associated with the autoimmune diseases orthostatic intolerance, pure autonomic failure, and multiple system atrophy. PMID: 12833405
85. No major involvement of the DBH gene in schizophrenia in the Swedish population investigated. PMID: 12960750
86. This study report that individuals with genetically determined low serum DBH activity (genotype T/T) have protection against Parkinson's disease PMID: 14991826
87. No support for a role for the dopamine beta-hydroxylase gene allele and atention deficit hyperactivity disorder. PMID: 15167700
88. The results suggest that the DOPAMINE BETA HYDROXYLASE -1021C-->T variant does not contribute to epilepsy. PMID: 15505174
89. investigation reinforces the possible association between DRD2 and smoking risk and provides preliminary indication that the DBH gene may influence smoking behavior PMID: 16032443
90. significant interaction between the DBH -1021C/T polymorphism and fasting plasma glucose (FPG) in the association with hypertension PMID: 16097364
91. No significant differences were observed in allele or genotype frequencies between alcoholics and controls and no association was detected between the polymorphisms and personality dimensions PMID: 16133787
92. Altered homospecific activity of the enzyme can contribute to variation in plasma DBH activity. PMID: 16152569
93. Frequencies of DBH alleles and genotypes of individuals with mild withdrawal symptoms did not differ significantly from those of patients with delirium tremens or alcohol withdrqwal syndrome. PMID: 16252068
94. Single nucleotide polymorphisms(rs2519152) associates with plasma dopamine beta-hydroxylase activity (pDbetaH) in attention-deficit/hyperactivity disorder. PMID: 16616730
95. The DBH TaqI A2 allele, when homozygous, was associated with being more hyperactive in childhood, having more pervasive behavior problems at adolescence. PMID: 16741944
96. Impaired temporal resolution of visual attention of attention-deficit/hyperactivity disorder is associate with dopamine beta-hydroxylase. PMID: 16876143
97. A significant effect of DBH genotype was found on SART performance. Children possessing two copies of the ADHD-associated risk allele (A2) had significantly poorer sustained attention than ADHD children without this allele. PMID: 17131588
98. individuals homozygous for the 'very low-activity' T allele of dopamine beta-hydroxylase show an increased propensity to paranoia PMID: 17157269
99. This article reviews DBH and polymorphisms in the DBH gene that influence DBH activity in the serum and the CSF level of DBH. All those are evaluated in connection with ADHD. PMID: 17187001
100. The 19bp insertion/deletion polymorphism of the DBH gene influences cognition in elderly women. Both genetic polymorphisms had a significantly smaller impact on cognition than age, education, alcohol consumption and body fat measures. PMID: 17200925

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HGNC: 2689

OMIM: 223360

KEGG: hsa:1621

STRING: 9606.ENSP00000376776

UniGene: Hs.591890