rs6271
This is a variant in the DBH gene that changes a arginine to an cysteine.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
dopamine beta-hydroxylase measurement
diastolic blood pressure
systolic blood pressure
vanillylmandelate (VMA) measurement
mean arterial pressure
hypertension
X-12707 measurement
X-13553 measurement
Calcium channel blocker use measurement
▶ClinVar annotation
▶Research that mentions this SNP (5)
▶Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weightReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology
A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.
▶Converging Evidence for the Association of Functional Genetic Variation in the Serotonin Receptor 2a Gene With Prefrontal Function and Olanzapine TreatmentAssociationN=887Giuseppe Blasi et al.(2013)· JAMA Psychiatry
Association study of 55 SNPs in 887 Hungarian adults examining genetic predisposition to aggression measured by the Buss-Perry Aggression Questionnaire. The HTR2A rs7322347 intronic variant showed significant association with aggression after Bonferroni correction (p = 0.0007), with carriers of the minor A allele showing lower aggression levels. The DRD4 rs916455 variant also showed nominal significance (p = 0.0275) but did not survive multiple testing correction.
▶A high density linkage disequilibrium mapping in 14 noradrenergic genes: evidence of association between SLC6A2, ADRA1B and ADHDAssociationN=810Ziarih Hawi et al.(2013)· Psychopharmacology
High-density SNP mapping of 14 noradrenergic genes in 270 ADHD families (810 individuals from Ireland and Australia) revealed suggestive single-SNP associations but significant haplotype associations in SLC6A2 (5-SNP haplotype: rs36009, rs1800887, rs8049681, rs2242447, rs9930182; χ²=9.39, p=0.019, OR=1.51) and ADRA1B (6-SNP haplotype: rs2030373, rs6884105, rs756275, rs6892282, rs6888306, rs13162302; χ²=7.79, p=0.042, OR=2.74). Notable single-SNP findings included rs8047672 in SLC6A2 (χ²=7.21, p=0.007, OR=2.04) and rs6888306 in ADRA1B (χ²=5.95, p=0.014, OR=1.46), supporting a role of the noradrenergic pathway in ADHD genetic risk.
▶Linkage analysis of plasma dopamine β-hydroxylase activity in families of patients with schizophreniaAssociationN=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.
▶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.
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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