rs1611115
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;T) | normal | |
| (T;T) | 0 | somewhat more associated with impulsiveness and adult ADHD |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 133635393 |
| Gene | DBH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1611115 |
| dbSNP (classic) | rs1611115 |
| ClinGen | rs1611115 |
| ebi | rs1611115 |
| HLI | rs1611115 |
| Exac | rs1611115 |
| Gnomad | rs1611115 |
| Varsome | rs1611115 |
| LitVar | rs1611115 |
| Map | rs1611115 |
| PheGenI | rs1611115 |
| Biobank | rs1611115 |
| 1000 genomes | rs1611115 |
| hgdp | rs1611115 |
| ensembl | rs1611115 |
| geneview | rs1611115 |
| scholar | rs1611115 |
| rs1611115 | |
| pharmgkb | rs1611115 |
| gwascentral | rs1611115 |
| openSNP | rs1611115 |
| 23andMe | rs1611115 |
| SNPshot | rs1611115 |
| SNPdbe | rs1611115 |
| MSV3d | rs1611115 |
| GWAS Ctlg | rs1611115 |
| GMAF | 0.2075 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1611115 (C-1021T) is a SNP near the dopamine beta-hydroxylase (DBH) gene.
per OMIM, the T allele is associated with lower DBH expression in plasma (16 of TT genotype had DBH activity of 4.1, 46 of CT genotype had DBH activity of 25.2, and 112 of CC genotype had DBH activity of 48.1 nmol/min/ml)
Association tests related to affective disorders such as ADHD were performed using four independent samples, healthy volunteers (N = 387), patients with affective disorders (N = 182), adult attention deficit hyperactivity disorder (ADHD) patients (N = 407), and patients with personality disorders (N = 637). Personality disorder patients carrying the DBH TT genotype exhibited higher neuroticism and novelty seeking scores as compared to individuals with the (C;C) or (C;T) genotype. Analyses on the level of the neuroticism and novelty seeking subscales revealed that the DBH (T;T) genotype was primarily associated with personality features related to impulsiveness and aggressive hostility. Also adult ADHD patients carrying the homozygous (T;T) genotypes displayed by significantly increased neuroticism scores; when both personality disorder and adult ADHD patient were analyzed together, (T;T) carriers also displayed by significantly lower conscientiousness levels. [PMID 18982239]
This study concludes that rs1611115(T;T) homozygotes appear to be at increased risk for personality traits related to impulsiveness, aggression, and adult ADHD. [PMID 18982239]
Dopamine-beta-hydroxylase in postural tachycardia syndrome. T allele associated with lower plasma DBH levels, and accounts for up to 52% of variation in plasma DBH, but not linked to increased susceptibility to postural tachycardia syndrome (POTS). [PMID 17625104]
[PMID 20498626] Role of polymorphisms in dopamine synthesis and metabolism genes and association of DBH haplotypes with Parkinson's disease among North Indians
[PMID 19757024] Study on DBH genetic polymorphisms and plasma activity in attention deficit hyperactivity disorder patients from Eastern India
[PMID 21070631
] The dopamine beta-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project
[PMID 22761865] Dopamine Beta Hydroxylase Genotype Identifies Individuals Less Susceptible to Bias in Computer-Assisted Decision Making
[PMID 16616730] A single nucleotide polymorphism at DBH, possibly associated with attention-deficit/hyperactivity disorder, associates with lower plasma dopamine beta-hydroxylase activity and is in linkage disequilibrium with two putative functional single nucleotide polymorphisms.
[PMID 17457369] Genotypic and haplotypic associations of the DBH gene with plasma dopamine beta-hydroxylase activity in African Americans.
[PMID 18172755] Correlation of plasma dopamine beta-hydroxylase activity with polymorphisms in DBH gene: a study on Eastern Indian population.
[PMID 18180394] Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans.
[PMID 18330705] Physiogenomic analysis of localized FMRI brain activity in schizophrenia.
[PMID 18466599] Linkage studies of catechol-O-methyltransferase (COMT) and dopamine-beta-hydroxylase (DBH) cDNA expression levels.
[PMID 18722802] Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease.
[PMID 19604093] Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients.
[PMID 19673036] Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population.
[PMID 20621148] Genotype-controlled analysis of serum dopamine beta-hydroxylase activity in civilian post-traumatic stress disorder.
[PMID 21216270] Role of gene-gene/gene-environment interaction in the etiology of eastern Indian ADHD probands.
[PMID 21509519] Linkage analysis of plasma dopamine beta-hydroxylase activity in families of patients with schizophrenia.
[PMID 23384717] Association Between 1603C>T Polymorphism of DBH Gene and Bipolar Disorder in a Turkish Population
[PMID 23510745] Positive association between -1021TT genotype of dopamine beta hydroxylase gene and progressive behavior of injection heroin users
[PMID 23906995] Association of functional DBH genetic variants with alcohol dependence risk and related depression and suicide attempt phenotypes: Results from a large multicenter association study
[PMID 22875483] Identification of a novel ANKK1 and other dopaminergic (DRD2 and DBH) gene variants in migraine susceptibility.
[PMID 22906516] Pharmacogenetic randomized trial for cocaine abuse: disulfiram and dopamine beta-hydroxylase.
[PMID 23261162] DBH -1021C>T and COMT Val108/158Met genotype are not associated with the P300 ERP in an auditory oddball task.
[PMID 23416088] Genotype-independent decrease in plasma dopamine beta-hydroxylase activity in Alzheimer's disease.
[PMID 23458673] DBH gene as predictor of response in a cocaine vaccine clinical trial.
[PMID 23692268] Association between dopamine Beta-hydroxylase gene polymorphisms and attention-deficit hyperactivity disorder in korean children.
[PMID 24986918] The catecholamine biosynthetic enzyme dopamine β-hydroxylase (DBH): first genome-wide search positions trait-determining variants acting additively in the proximal promoter
| ClinVar | |
|---|---|
| Risk | Rs1611115(C;C) |
| Alt | Rs1611115(C;C) |
| Reference | Rs1611115(T;T) |
| Significance | Non-pathogenic |
| Disease | Dopamine beta hydroxylase deficiency |
| Variation | info |
| Gene | DBH |
| CLNDBN | Dopamine beta hydroxylase deficiency |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136500515T>C |
| CLNSRC | |
| CLNACC | RCV000201837.1, |
[PMID 33204361] Facial Emotion Recognition and Polymorphisms of Dopaminergic Pathway Genes in Children with ASD.
