rs2797849
This variant is located in the DBH gene.
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶New genetic evidence for involvement of the dopamine system in migraine with auraAssociationN=1,300Unda Todt et al.(2009)· Human Genetics
This case-control association study of 650 German migraine with aura (MA) patients and 650 controls tested 53 variants across 10 dopaminergic system genes. Three SNPs in the dopamine-beta hydroxylase (DBH), dopamine transporter (SLC6A3), and dopamine D2 receptor (DRD2) genes showed significant associations with MA. After gene-wide correction, rs2097629 in DBH (OR=0.77, p=0.0012) and rs40184 in SLC6A3 (OR=0.81, p=0.0082) remained significant, with supporting evidence from 2,937 British controls. These findings provide genetic evidence for dopaminergic system involvement in MA pathogenesis.
▶SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their familiesAssociationN=364Kollins SH et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Haplotype-tagging SNP analysis in 364 individuals from 152 ADHD families identified significant associations between commission errors and SNPs in the DRD2 gene (rs2075654, rs1079596) and between reaction time variability and a SNP in the NET gene (rs3785155). These findings suggest that commission errors and reaction time variability are valid ADHD endophenotypes linked to dopaminergic and noradrenergic pathways.
▶Examination of association to autism of common genetic variationin genes related to dopamineAssociationN=403Anderson BM et al.(2008)· Autism Research
This association study examined 28 SNPs across 14 dopamine pathway candidate genes in 403 families with autism to test the hypothesis that common genetic variation in dopamine metabolism contributes to autism susceptibility. While rs2239535 (YWHAB, chromosome 20) showed the strongest nominally significant association (p=0.008), this did not remain significant after correction for multiple comparisons, and no significant gene-gene interactions were detected using Multifactor Dimensionality Reduction analysis.
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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