Rs6295
Encyclopedia
rs6295, also called CG, is a gene variation—a single nucleotide polymorphism
(SNP)—in the HTR1A gene
. It is one of the most investigated SNPs of its gene. The C-allele
is the most prevalent with 0.675 against the G-allele with 0.325 among Caucasian
.
The effect of the SNP on the binding potential
of the human 5-HT1A neuroreceptor
has been assessed with positron emission tomography
and the WAY-100635
radioligand
, with a study reporting no apparent influence from the SNP.
attempts, and psychiatric disorders. One study found an association of the variant with schizophrenia
. Some studies associate the G-allele or GG-genotype with depression. Not all studies show associations between the disorder and the G-allele. In one study of premenstrual dysphoric disorder
C/C was found as the high-risk genotype.
Several studies have examine the SNP association with medical treatment response, e.g., antidepressant
response in mood disorders, e.g., one study reported worse response for G-allele patients.
of the polymorphism may have higher personality score for the NEO PI-R Neuroticism
and TPQ
Harm Avoidance
traits. However, not all studies can find a clear association. One study has studied another trait and found higher score on Temperament and Character Inventory
self-transcendence scale for G-allele subjects among mood disorder
patients.
Single nucleotide polymorphism
A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — A, T, C or G — in the genome differs between members of a biological species or paired chromosomes in an individual...
(SNP)—in the HTR1A gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. It is one of the most investigated SNPs of its gene. The C-allele
Allele
An allele is one of two or more forms of a gene or a genetic locus . "Allel" is an abbreviation of allelomorph. Sometimes, different alleles can result in different observable phenotypic traits, such as different pigmentation...
is the most prevalent with 0.675 against the G-allele with 0.325 among Caucasian
Caucasian race
The term Caucasian race has been used to denote the general physical type of some or all of the populations of Europe, North Africa, the Horn of Africa, Western Asia , Central Asia and South Asia...
.
The effect of the SNP on the binding potential
Binding potential
In pharmacokinetics and receptor-ligand kinetics the binding potential is a combined measure of the density of "available" neuroreceptors and the affinity of a drug to that neuroreceptor.- Description :Consider a ligand receptor binding system...
of the human 5-HT1A neuroreceptor
5-HT2A receptor
The mammalian 5-HT2A receptor is a subtype of the 5-HT2 receptor that belongs to the serotonin receptor family and is a G protein-coupled receptor . This is the main excitatory receptor subtype among the GPCRs for serotonin , although 5-HT2A may also have an inhibitory effect on certain areas such...
has been assessed with positron emission tomography
Positron emission tomography
Positron emission tomography is nuclear medicine imaging technique that produces a three-dimensional image or picture of functional processes in the body. The system detects pairs of gamma rays emitted indirectly by a positron-emitting radionuclide , which is introduced into the body on a...
and the WAY-100635
WAY-100635
WAY-100,635 is a piperazine drug and research chemical widely used in scientific studies. It was originally believed to act as a selective 5-HT1A receptor antagonist, but subsequent research showed that it also acts as potent full agonist at the D4 receptor. It is sometimes referred to as a silent...
radioligand
Radioligand
A radioligand is a radioactive biochemical substance that is used for diagnosis or for research-oriented study of the receptor systems of the body....
, with a study reporting no apparent influence from the SNP.
Disorders
The SNP has been investigated for association with suicideSuicide
Suicide is the act of intentionally causing one's own death. Suicide is often committed out of despair or attributed to some underlying mental disorder, such as depression, bipolar disorder, schizophrenia, alcoholism, or drug abuse...
attempts, and psychiatric disorders. One study found an association of the variant with schizophrenia
Schizophrenia
Schizophrenia is a mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests itself as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social...
. Some studies associate the G-allele or GG-genotype with depression. Not all studies show associations between the disorder and the G-allele. In one study of premenstrual dysphoric disorder
Premenstrual dysphoric disorder
Premenstrual dysphoric disorder is a severe form of premenstrual syndrome, afflicting 3% to 8% of women. It is a diagnosis associated primarily with the luteal phase of the menstrual cycle...
C/C was found as the high-risk genotype.
Several studies have examine the SNP association with medical treatment response, e.g., antidepressant
Antidepressant
An antidepressant is a psychiatric medication used to alleviate mood disorders, such as major depression and dysthymia and anxiety disorders such as social anxiety disorder. According to Gelder, Mayou &*Geddes people with a depressive illness will experience a therapeutic effect to their mood;...
response in mood disorders, e.g., one study reported worse response for G-allele patients.
Personality
The polymorphism has also been investigated for links to personality traits. Persons with the G-alleleAllele
An allele is one of two or more forms of a gene or a genetic locus . "Allel" is an abbreviation of allelomorph. Sometimes, different alleles can result in different observable phenotypic traits, such as different pigmentation...
of the polymorphism may have higher personality score for the NEO PI-R Neuroticism
Neuroticism
Neuroticism is a fundamental personality trait in the study of psychology. It is an enduring tendency to experience negative emotional states. Individuals who score high on neuroticism are more likely than the average to experience such feelings as anxiety, anger, guilt, and depressed mood...
and TPQ
Tridimensional Personality Questionnaire
Tridimensional Personality Questionnaire is a personality test.It was devised by C. Robert Cloninger.A newer version of the questionnaire is called Temperament and Character Inventory....
Harm Avoidance
Harm avoidance
In psychology, harm avoidance is a personality trait characterized by excessive worrying; pessimism; shyness; and being fearful, doubtful, and easily fatigued...
traits. However, not all studies can find a clear association. One study has studied another trait and found higher score on Temperament and Character Inventory
Temperament and Character Inventory
Temperament and Character Inventory is an inventory for personality traits devised by Cloninger et al.It is closely related to and an outgrowth of Tridimensional Personality Questionnaire ,...
self-transcendence scale for G-allele subjects among mood disorder
Mood disorder
Mood disorder is the term designating a group of diagnoses in the Diagnostic and Statistical Manual of Mental Disorders classification system where a disturbance in the person's mood is hypothesized to be the main underlying feature...
patients.