CHROMOSOME 9 DBH 9q34.2 GENE VIEW DBH · 9q34.2 9q33 9q35 rs5320 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs5320 Alanine 211 → Threonine G / A · DBH · 9q34.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs5320

Alanine 211 → Threonine Gene: DBH — Dopamine Beta-Hydroxylase Chr 9:133642351 9q34.2 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total G 0.931812A 0.068188GG 0.869523GA/AG 0.124579AA 0.005898pop=572,698
African G 0.8516A 0.1484GG 0.726557GA/AG 0.250086AA 0.023358pop=58,396
African American G 0.85272A 0.14728GG 0.728461GA/AG 0.248517AA 0.023022pop=56,294
African Others G 0.8216A 0.1784GG 0.675547GA/AG 0.292103AA 0.03235pop=2,102
Asian G 0.87886A 0.12114GG 0.773235GA/AG 0.211244AA 0.015521pop=10,566
East Asian G 0.8761A 0.1239GG 0.768588GA/AG 0.214978AA 0.016433pop=7,424
European G 0.943987A 0.056013GG 0.891266GA/AG 0.105443AA 0.003291pop=432,670
Latin American 1 G 0.9164A 0.0836GG 0.839918GA/AG 0.152881AA 0.007202pop=9,720
Latin American 2 G 0.95743A 0.04257GG 0.916688GA/AG 0.081492AA 0.00182pop=15,388
Other G 0.92628A 0.07372GG 0.859148GA/AG 0.134259AA 0.006593pop=37,614
Other Asian G 0.8854A 0.1146GG 0.784214GA/AG 0.202419AA 0.013367pop=3,142
South Asian G 0.9246A 0.0754GG 0.858821GA/AG 0.131592AA 0.009588pop=8,344

Studies47

Unread Studies47
1
Genetic predispositions for anxiety disorders and major depressive disorder affect current dietary habits in older patients with lifestyle-related diseases
2
Biomedical engineers produce knowledge and artifacts. Across the life cycle of an idea, errors can creep in. In this letter, we propose the term linguistic, orthographic, and typographical …
3
Dietary habits are critical for the prevention and management of physical and mental disorders and may also be influenced by genetic factors for educational attainment (EA) and …
4
Genetic studies of smoking cessation have been limited by short-term follow-up or cross-sectional design. Within seven genes (CHRNA3, CHRNA5, CHRNB2, CHRNB4, …
5
Dietary habits may impact the prevention and management of schizophrenia (SCZ) and bipolar disorder (BD), and genetic and environmental factors can influence both these habits …
6
… Five single nucleotide polymorphisms (SNPs) rs1611115, rs2797849, rs5320, rs5324, and … rs2797849 is an intronic SNP, whereas rs5320 and rs5324 are non-synonymous variants …
7
Alcheimera slimība (AD) ir progresējoša un neatgriezeniska neirodeģeneratīva slimība. Pašreiz pieejamās medikamentozās terapijas ir simptomātiskas un īslaicīgi efektīvas. Zāļu …
8
Загалом можна стверджувати, що в результаті теоретичного дослідження, виявлено фактори, які можуть впливати на психологічний розвиток дітей, це такі як: соціально-…
9
This study investigated quantitative electroencephalography (QEEG) subtypes as auxiliary tools to assess Attention Deficit Hyperactivity Disorder (ADHD). A total of 74 subjects (58 male …
10
Over the past several years, the exponential growth in DNA sequencing technologies being extensively utilized in laboratories has transformed human and medical genetics. DNA …
11
Parkinson’s disease (PD) is the debilitating movement disorder, distinguished by dopaminergic and norepinephrinergic neurodegeneration. Apart from candidate gene …
12
The entire cingulate cortex is engaged in the structure/function abnormalities found in attention-deficit/hyperactivity disorder (ADHD). In ADHD, which is the most common …
13
The dopaminergic pathways have previously been reported to be involved in drug dependence. The candidate gene involved in the dopaminergic function has been …
14
Стаття присвячена дослідженню емоційно-деструктивної поведінки дітей, в залежності від рівня її прояву. У роботі розкрито, психологічну сутність змісту емоційно-…
15
… was then used to study the polymorphism position rs5320 and allele and genotype frequency of … Conclusion: The results suggest that DBH polymorphism, position rs5320, plays a role in …
16
To search for susceptibility genes and loci for nicotine addiction, many genetic approaches have been used, which include genome-wide linkage, candidate gene association, GWAS, …
17
Статтю присвячено дослідженню співвідношення показників, що характеризують емоційну деструктивність, гіперактивність та особистісні особливості дітей залежно від …
18
Стаття присвячена досить актуальній темі, адже молодший шкільний вік є сензитивним для: формування вчення; формування стійких пізнавальних потреб; розвитку …
19
This thesis aims to undertake health technology assessments in high risk pregnancies through the following objectives: 1. In women with pre-eclampsia, a) To evaluate the association …
20
Dopamine-β-hydroxylase (DBH), an enzyme that converts dopamine into norepinephrine, is a drug target in cardiovascular and neuropsychiatric disorders. We aimed to …
21
The endogenous opioid system has been reportedly implicated in tobacco/nicotine dependence. Materials & methods: We examined the genetic effects of eight SNPs in opioid …
22
Experimental approaches to genetic studies of complex traits evolve with technological advances. How do discoveries using different approaches advance our knowledge of the genetic …
23
Tobacco smoking is currently on the rise among women, and can pose a greater health risk. In order to understand the nature of the increase in smoking prevalence among women, we …
24
The presence of multiple primary tumors (MPT) in a single patient has been identified with an increasing frequency. A critical issue is to establish if the second tumor represents an …
25
Smoking behavior is a multifactorial trait influenced by genetic and environmental components. Several genome-wide association studies (GWASs) have identified candidate genes or …
26
Depression in the form of serious mental illness is known to influence overall physiological and cognitive functions of any individual. Existing reports suggest that many brain regions …
27
… Association between dopamine beta hydroxylase rs5320 polymorphism and smoking behaviour in elderly Japanese. J Hum Genet. 2012; 57(6):385-90. …
28
Many genetic and environmental factors are involved in the etiology of nicotine dependence. Although several candidate gene variations have been reported by candidate …
29
Addictions to alcohol and tobacco, known risk factors for cancer, are complex heritable disorders. Addictive behaviors have a bidirectional relationship with pain. We …
30
… Association between dopamine beta hydroxylase rs5320 polymorphism and smoking behaviour in elderly Japanese. J Hum Genet. 2012; 57(6):385-90. …
31
Published guidelines for treating injured workers include the need for personalized treatment to manage chronic pain symptoms and increase functional status. However, they often fail …
32
Dopamine is a key molecule in the pathophysiology of methamphetamine (METH) psychosis. We examined the association between METH psychosis and the dopamine β-hydroxylase (…
33
Severe preeclampsia is a common cause of maternal and perinatal morbidity worldwide. The disease clusters in families; however, individual genetic studies have produced …
34
dopamine β-hidroxylase catalyzes the conversion of dopamine to norepinephrine and it is a promising target for pharmacological inventions. DβH gene polymorphisms are …
35
… Association with the risk for psychiatric side effects of between dopamine beta hydroxylase rs5320 levetiracetam. Epilepsia 2013; 54(1):36-44. polymorphism and smoking behaviour in …
36
la dopamina β-hidroxilasa cataliza la conversión de dopamina en norepinefrina y es blanco promisorio de intervenciones farmacológicas. Polimorfismos del gen DβH son …
37
… (35) han confirmado en 2012 que la distribución del genotipo AA y las frecuencias de alelos A de rs5320 en el gen de dopamina beta-hidroxilasa en niños con TDAH difiere …
38
… The distribution of AA genotype and A allele frequencies of rs5320 in the dopamine beta-… We conclude that the rs5320 polymorphism may be considered as a genetic risk factor of …
39
Vitamin D may have a role in brain function. Low levels have been frequently associated with cognitive decline and may contribute to diseases of the nervous system. The vitamin D …
40
… The only apparently significant results for the other two DBH SNPs studied in our full dataset, exon 3 Ala197Thr (rs5320) and intron 10 A/G (rs1611131), were somewhat inconsistent, …
41
The loss of noradrenergic neurones of the locus coeruleus is a major feature of Alzheimer's disease (AD). Dopamine β-hydroxylase (DBH) catalyses the conversion of …
42
Understanding the etiology and pathogenesis of schizophrenia has been difficult due to the complex inheritance patterns, genetic heterogeneity and varied multiple nonlinear …
43
Fibromyalgia (FM) and chronic fatigue syndrome or myalgic encephalomyelitis (CFS/ME) are believed to be two separate illnesses that are diagnosed using separate but …
44
We have recruited 27 probands (with schizophrenia) with their parents and siblings whenever possible. We analyzed 3 single nucleotide polymorphisms (SNPs) of the …
45
… Association between dopamine beta hydroxylase rs5320 polymorphism and smoking behaviour in elderly Japanese. Journal of human genetics 2012;57(6):385-90. polymorphism of …
46
Biomedical engineers produce knowledge and artefacts. Across the life-cycle of an idea, errors can creep in. In this letter, we propose the term linguistic, orthographic and typographical …
47
When studying the DRD4 gene polymorphism in the group of aggressive and non-aggressive dogs, the most common genotype was P/P, and the least common was Q/Q. In the …
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0

No unused studies.