CHROMOSOME 5 SLC6A3 5p15.33 GENE VIEW SLC6A3 · 5p15.33 5p16 5p14 rs460000 — ~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 rs460000 G / A · SLC6A3 · 5p15.33 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

rs460000

Gene: SLC6A3 — Solute Carrier Family 6 Member 3 Chr 5:1432710 5p15.33
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.758089T 0.241911GG 0.582203GT/TG 0.351772TT 0.066025pop=677,046
African G 0.57547T 0.42453GG 0.333368GT/TG 0.484208TT 0.182424pop=58,194
African American G 0.57698T 0.42302GG 0.334993GT/TG 0.483974TT 0.181032pop=56,222
African Others G 0.5325T 0.4675GG 0.287018GT/TG 0.490872TT 0.22211pop=1,972
Asian G 0.49185T 0.50815GG 0.239047GT/TG 0.505608TT 0.255345pop=11,412
East Asian G 0.4779T 0.5221GG 0.225235GT/TG 0.505358TT 0.269407pop=9,146
European G 0.791106T 0.208894GG 0.627489GT/TG 0.327232TT 0.045278pop=550,728
Latin American 1 G 0.7015T 0.2985GG 0.496811GT/TG 0.409402TT 0.093787pop=8,466
Latin American 2 G 0.66085T 0.33915GG 0.438487GT/TG 0.444735TT 0.116778pop=17,606
Other G 0.71093T 0.28907GG 0.508263GT/TG 0.405327TT 0.08641pop=22,752
Other Asian G 0.5481T 0.4519GG 0.294793GT/TG 0.50662TT 0.198588pop=2,266
South Asian G 0.5991T 0.4009GG 0.378296GT/TG 0.441684TT 0.18002pop=7,888

Studies42

Unread Studies42
1
This case–control study aimed to determine the correlation between single nucleotide polymorphisms (SNPs) in the neurotransmitter transporter genes SLC6A3 and SLC6A4 …
2
A engenharia de avaliações é um ramo da engenharia voltado à realização de estudos técnicos que visam estimar o valor de bens imóveis. No caso de imóveis urbanos, os …
3
3,4-Methylenedioxymethamphetamine (MDMA) is a synthetic amphetamine derivative with notable psychoactive properties and emerging therapeutic potential, particularly for treating …
4
… In addition, allelic variation in polymorphisms of the DAT gene (ie, rs37020, rs460000) predicted individual differences in measurements of response inhibition (for example in …
5
Oxytocin is well known for its role in relationships and social cognition and has more recently been implicated in pain relief and pain perception. Connections between prosocial feelings …
6
Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental syndromes diagnostically characterized by deficits in social communication and social interaction and …
7
Atremorine is a potent dopamine (DA) enhancer obtained by nondenaturing biotechnological processes from a genetic species of Vicia faba. Atremorine affects the neuronal …
8
… Genetic variation within SLC18A2, including rs464040 and rs460000 were associated with … within the short-time period with rs464049 and rs460000. In the same study there was no …
9
This review summarizes the available data about genetic factors which can link ischemic stroke and sleep. Sleep patterns (subjective and objective measures) are characterized by …
10
… work showed that polymorphisms (rs37020; rs460000) in this dopamine transporter gene allow to predict individual differences in stop-signal reaction time (SSRT) and have impact on …
11
… work showed that polymorphisms (rs37020; rs460000) in this dopamine transporter gene allow to predict individual differences in stop-signal reaction time (SSRT) and have impact on …
12
In this review, we comprehensively discuss recent reports of heritability and genetic associations using candidate gene and genome-wide association (GWA) …
13
Oxytocin (OT) is a naturally occurring hormone produce by the hypothalamus. While a growing body of work has focused on the role of OT in modulating human social …
14
Short sleep duration has been linked to negative health effects, but is a complex phenotype with many contributing factors, including genetic. We evaluated 27 common single …
15
3,4-Methylenedioxymethamphetamine (MDMA, ecstasy) is a recreational substance also investigated as medication for posttraumatic stress disorder. Dopamine (DA) system stimulation …
16
… Genetic variation within the SLC6A3 (rs464049 and rs460000) gene was found to be associated with neurobehavioral recovery trajectories over time following TBI. In addition, genetic …
17
We sought to explore the role of the SLC6A3 rs393795 allelic variant in cerebral spontaneous activity and clinical features in Parkinson’s disease (PD) via imaging genetic …
18
Dyshomeostasis of the dopaminergic system is implicated in the pathophysiology of eating disorders (EDs). We have previously reported an association between 3'-UTR …
19
The present study examined the association of dopamine-related genes with short- and long-term neurobehavioral recovery, as well as neurobehavioral recovery trajectories over time, …
20
Dopaminergic dysfunction has an important role in the pathoetiology of alcohol dependence (AD). The purpose of this study was to determine whether the solute carrier family 6 …
21
This chapter focuses on inhibitory control, largely operationalised as response inhibition, and its contribution to substance abuse, and highlights results from two classic tasks of …
22
… Both the rs37020 and rs460000 SNPs of the DAT1 gene were included, as well as the rs4680 SNP of the COMT gene … No effects were observed for the DAT1 rs460000 polymorphism. …
23
A substantial amount of evidence suggests that dysfunction of the dopamine transporter may be involved in the pathophysiology of amphetamine dependence (AD). The …
24
Dopamine transporter and its genetic factors have been suggested to play a critical role in the development of bipolar disorder (BPD). However, the importance of the dopamine …
25
… In this study, individuals possessing the C–C genotype at rs460000 showed a dose-dependent increase in the responsiveness to D-amphetamine compared with the other genotype …
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Stimulant medications such as methylphenidate (MPH) are the most frequently used medication for ADHD. MPH acts primarily by blocking the dopamine transporter (DAT). About 70% …
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There is significant variability in the severity of neonatal abstinence syndrome (NAS) due to in-utero opioid exposure. We wanted to determine if single nucleotide …
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In the current thesis I investigate the neural and genetic underpinnings of response inhibition, in a large cohort of adolescents with ADHD, their unaffected siblings and healthy controls. …
29
Levodopa-induced dyskinesias (LID) present a common but elusive complication of levodopa therapy in Parkinson’s disease (PD). In order to identify genetic factors associated with LID…
30
Recovery after Traumatic Brain Injury (TBI) is variable, even for patients with similar severity of brain injury. Recent research has highlighted the contribution that genetic predisposition …
31
Impulsivity, defined as the tendency to act without foresight, comprises a multitude of constructs and is associated with a variety of psychiatric disorders. Dissecting different aspects of …
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Recent studies suggest that entrepreneurship is partly heritable, but are unable to pinpoint the specific genes involved. This thesis presents results from novel research aiming to identify …
33
Impulsivity refers to acting without forethought. It can be detrimental to daily social functioning and interaction, and is significantly implicated in several clinical conditions, eg violence …
34
… We report novel associations between polymorphisms (rs307020; rs460000) of the SLC6A3 gene and SSRT that survive corrections for multiple comparisons, and are independent of …
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… (2010a) tested 4 additional SNPs near the 5′ end of SLC6A3 that were not in linkage disequilibrium with the 3′-UTR VNTR, and found a significant association between the rs460000 …
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… Two additional SNPs of the DRD2 gene were also found to correlate with enhanced response inhibition—the T allele in rs37020 and the C allele in rs460000 were responsible for this …
37
Major depression is a complex psychiatric disorder involving multiple factors, including genetic and personality components. This study used 17 polymorphisms of dopamine transporter …
38
Outcome after a traumatic brain injury (TBI) can be quite variable and unpredictable. For example, in clinical practice very different cognitive and functional outcomes are seen in …
39
Impulsivity refers to acting without forethought. It can be detrimental to daily social functioning and interaction, and is significantly implicated in several clinical conditions, eg violence …
40
Much evidence suggests that dysfunction of dopamine transporter‐mediated dopamine transmission may be involved in the pathophysiology of substance abuse and dependence. The …
41
The dopamine transporter gene (SLC6A3) is a compelling candidate for pediatric bipolar disorder because (a) it has been associated with ADHD, (b) bipolar comorbidity with ADHD has …
42
To determine whether SNPs within the dopamine transporter gene (DAT) are associated with quantitative phenotypes generated from drug frequency variables in an …
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