rs1611122

This variant is located 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.

cadherin-5 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 0.05
p 2.0e-17
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Linkage analysis of plasma dopamine β-hydroxylase activity in families of patients with schizophrenia
AssociationN=284Joseph F. Cubells et al.(2011)· Human Genetics

This linkage study examined plasma dopamine beta-hydroxylase (pDBH) activity in 284 individuals from 123 families of schizophrenia patients. Strong linkage was confirmed between DBH gene markers and pDBH activity (maximum multipoint LOD score 6.33), with rs1611115 showing the strongest association (p=1.14×10⁻¹⁸). The three key DBH variants rs1611115, rs1611122, and rs6271 accounted for 40% of genetic variation. A novel linkage signal was identified on chromosome 20p12 (LOD=3.1), while no support was found for previously reported linkage on chromosome 19.

Traits studied:Plasma dopamine beta-hydroxylase activityPsychotic symptomsSchizophrenia
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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