SNP: rs5569 | |
---|---|
Name(s) | A1287G, G1287A |
Gene | SLC6A2 |
Chromosome | 16 |
Region | Exon 9 |
External databases | |
Ensembl | Human SNPView |
dbSNP | 5569 |
HapMap | 5569 |
SNPedia | 5569 |
In genetics, rs5569 (A1287G or G1287A) is a genetic variant. It is a single nucleotide polymorphism (SNP) in the SLC6A2 gene in exon 9. This gene codes the norepinephrine transporter. The SNP is a silent substitution and the nucleotides of both variants code a threonine amino acid. [1]
Several research studies have examined the effect of the variant in relation to alcohol dependence, [2] [3] attention deficit hyperactivity disorder, [4] diabetes, [5] major depressive disorder, [6] [7] panic disorder, [8] Tourette syndrome [9] and personality traits. [10] None of the studies have found an association.
Tricyclic antidepressants (TCAs) are a class of medications that are used primarily as antidepressants, which is important for the management of depression. They are second-line drugs next to SSRIs. TCAs were discovered in the early 1950s and were marketed later in the decade. They are named after their chemical structure, which contains three rings of atoms. Tetracyclic antidepressants (TeCAs), which contain four rings of atoms, are a closely related group of antidepressant compounds.
Methylphenidate, sold under the brand names Ritalin and Concerta among others, is a central nervous system (CNS) stimulant medication used to treat attention deficit hyperactivity disorder (ADHD) and, to a lesser extent, narcolepsy. It is a primary medication for ADHD; it may be taken by mouth or applied to the skin, and different formulations have varying durations of effect, commonly ranging from 2–4 hours. Though there is little to no evidence, and in some cases contradictory evidence, to support its use as an athletic performance enhancer, cognitive enhancer, aphrodisiac or euphoriant, claims persist that it can be used for these purposes.
The serotonin transporter also known as the sodium-dependent serotonin transporter and solute carrier family 6 member 4 is a protein that in humans is encoded by the SLC6A4 gene. SERT is a type of monoamine transporter protein that transports the neurotransmitter serotonin from the synaptic cleft back to the presynaptic neuron, in a process known as serotonin reuptake.
Catechol-O-methyltransferase is one of several enzymes that degrade catecholamines, catecholestrogens, and various drugs and substances having a catechol structure. In humans, catechol-O-methyltransferase protein is encoded by the COMT gene. Two isoforms of COMT are produced: the soluble short form (S-COMT) and the membrane bound long form (MB-COMT). As the regulation of catecholamines is impaired in a number of medical conditions, several pharmaceutical drugs target COMT to alter its activity and therefore the availability of catecholamines. COMT was first discovered by the biochemist Julius Axelrod in 1957.
The dopamine transporter is a membrane-spanning protein that pumps the neurotransmitter dopamine out of the synaptic cleft back into cytosol. In the cytosol, other transporters sequester the dopamine into vesicles for storage and later release. Dopamine reuptake via DAT provides the primary mechanism through which dopamine is cleared from synapses, although there may be an exception in the prefrontal cortex, where evidence points to a possibly larger role of the norepinephrine transporter.
Cross-tolerance is a phenomenon that occurs when tolerance to the effects of a certain drug produces tolerance to another drug. It often happens between two drugs with similar functions or effects—for example, acting on the same cell receptor or affecting the transmission of certain neurotransmitters. Cross-tolerance has been observed with pharmaceutical drugs such as anti-anxiety agents and illicit substances, and sometimes the two of them together. Often, a person who uses one drug can be tolerant to a drug that has a completely different function. This phenomenon allows one to become tolerant to a drug that they have never used before.
The norepinephrine transporter (NET), also known as noradrenaline transporter (NAT), is a protein that in humans is encoded by the solute carrier family 6 member 2 (SLC6A2) gene.
Dopamine beta-hydroxylase (DBH), also known as dopamine beta-monooxygenase, is an enzyme that in humans is encoded by the DBH gene. Dopamine beta-hydroxylase catalyzes the conversion of dopamine to norepinephrine.
In genetics, rs6313 also called T102C or C102T is a gene variation—a single nucleotide polymorphism (SNP)—in the human HTR2A gene that codes for the 5-HT2A receptor. The SNP is a synonymous substitution located in exon 1 of the gene where it is involved in coding the 34th amino acid as serine.
In genetics, rs7997012 is a gene variation—a single nucleotide polymorphism (SNP)—in intron 2 of the human HTR2A gene that codes for the 5-HT2A receptor. The SNP varies between adenine (A) and guanine (G) DNA bases with the G-allele being most frequent. A research study found it to be related to antidepressant treatment. The research group reported that a polymorphism (rs1954787) on another gene, the GRIK4, has also shown a treatment-response-association in this kind of treatment. In a Japanese study rs7997012 was not associated with either major depressive disorder or bipolar disorder.
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Rs6265, also called Val66Met or G196A, is a gene variation, a single nucleotide polymorphism (SNP) in the BDNF gene that codes for brain-derived neurotrophic factor.
In genetics, Rs1805054, also called C267T, is a name used for a specific genetic variation, a single nucleotide polymorphism (SNP), in the HTR6 gene. It is one of the few investigated polymorphisms of its gene. C267T is a synonymous polymorphism.
In genetics, rs1799913, also called A779C, is a gene variation—a single nucleotide polymorphism (SNP)— in the TPH1 gene. It is located in intron 7.
Klaus-Peter Lesch is a German clinical psychiatrist who has been investigating the neurobiological foundation of personality traits.
5-hydroxytryptamine (serotonin) receptor 3B, also known as HTR3B, is a human gene. The protein encoded by this gene is a subunit of the 5-HT3 receptor.
In genetics, rs1800955 is a single nucleotide polymorphism (SNP). It is located in the promoter region of the DRD4 gene. This gene codes for the dopamine receptor D4.
Reward dependence is characterized as a tendency to respond markedly to signals of reward, particularly to verbal signals of social approval, social support, and sentiment. When reward dependence levels deviate from normal we see the rise of several personality and addictive disorders.
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In genetics, rs4680 (Val158Met) is a genetic variant. It is a single nucleotide polymorphism (SNP) in the COMT gene that codes catechol-O-Methyltransferase. The single nucleotide substitution between G--> A results in an amino acid change from valine to methionine at codon 158.
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