rs74853476

This is a splice region variant variant in the DBH gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

dopamine beta-hydroxylase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.96
p 7.0e-54
N 47,745
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
15 submitters11 publications

Orthostatic hypotension 1 (ORTHYP1)

View on ClinVar →
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Research that mentions this SNP (2)

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The monoamine oxidase B gene exhibits significant association to ADHD
ReviewJun Li et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This review of molecular genetic studies of ADHD in Han Chinese populations summarizes candidate gene studies across dopaminergic, noradrenergic, serotonergic, and enzymatic systems, along with the first GWAS in Chinese ADHD cases (n=1040) and controls (n=963). While no single gene has been definitively identified, significant associations include DRD4 7-repeat allele (OR=1.70, 95% CI 1.20-2.40, p=0.003 in males), DBH rs2519152, and various polymorphisms in COMT, NET1, and serotonin genes, though results remain inconsistent across studies.

Traits studied:ADHD-Combined subtypeADHD-Hyperactive/Impulsive subtypeADHD-Inattentive subtypeAttentionAttention deficit hyperactivity disorderDisruptive behavior disorder comorbidityExecutive functionIQLearning disorder comorbidityOppositional defiant disorder comorbidityResponse inhibitionTic disorder comorbidityWorking memory
PubMedDOIMetascience Observatory
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Monoamine oxidase A gene polymorphism predicts adolescent outcome of attention‐deficit/hyperactivity disorder
ReviewJun Li et al.(2007)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This review examines molecular genetic studies of attention-deficit hyperactivity disorder (ADHD) in Han Chinese samples, including candidate gene studies, endophenotype research, genome-wide association studies, and pharmacogenomic investigations. Eight GWAS conducted for ADHD have been inconclusive with no genome-wide significant associations identified, though candidate gene studies have identified associations with dopaminergic (DAT1, DRD4, DRD2, DRD3), noradrenergic (NET1, ADRA2A, ADRA2C), serotonergic (SLC6A4, HTR genes), and metabolic pathway genes (COMT, MAOA, MAOB, DBH, TPH). A meta-analysis of DRD4 longer repeats showed OR=1.70-1.74 in males with ADHD-C subtype.

Traits studied:ADHD combined subtype (ADHD-C)ADHD primarily hyperactive/impulsive subtype (ADHD-HI)ADHD primarily inattentive subtype (ADHD-I)ADHD with comorbid disruptive behavior disorder (DBD)ADHD with comorbid learning disorderADHD with comorbid oppositional defiant disorder (ODD)ADHD with comorbid tic disorderAttention-deficit hyperactivity disorder (ADHD)Executive functionImpulsivityIntelligence quotient (IQ)Response inhibition
PubMedDOIMetascience Observatory

About DBH

The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]

View all DBH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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