rs6295, also called C(-1019)G, is a gene variation—a single nucleotide polymorphism (SNP)—in the

HTR1A The serotonin 1A receptor (or 5-HT1A receptor) is a subtype of serotonin receptor, or 5-HT receptor, that binds serotonin, also known as 5-HT, a neurotransmitter. 5-HT1A is expressed in the brain, spleen, and neonatal kidney. It is a G protei ...

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

. It is one of the most investigated SNPs of its gene. The C-

allele An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chro ...

is the most prevalent with 0.675 against the G-allele with 0.325 among

Caucasian Caucasian may refer to: Anthropology *Anything from the Caucasus region ** ** ** ''Caucasian Exarchate'' (1917–1920), an ecclesiastical exarchate of the Russian Orthodox Church in the Caucasus region * * * Languages * Northwest Caucasian l ...

. The effect of the SNP on the

binding potential In pharmacokinetics and receptor-ligand kinetics the binding potential (BP) 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 sys ...

of the human 5-HT_1A neuroreceptor has been assessed with positron emission tomography and the

WAY-100635 WAY-100635 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 ...

radioligand A radioligand is a radioactive biochemical substance (in particular, a ligand (biochemistry), ligand that is radioactive tracer, radiolabeled) that is used for diagnosis or for research-oriented study of the receptor (biochemistry), receptor system ...

, with a study reporting no apparent influence from the SNP.

Disorders

The SNP has been investigated for association with suicide attempts, and

psychiatric disorder A mental disorder, also referred to as a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Such features may be persistent, relapsing and remitt ...

s. One study found an association of the variant with

schizophrenia Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social wit ...

. 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 (PMDD) is a mood disorder characterized by emotional, cognitive, and physical symptoms that cause significant distress or impairment in menstruating women during the luteal phase of the menstrual cycle. The symptom ...

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.

Personality

The polymorphism has also been investigated for links to

personality trait In psychology, trait theory (also called dispositional theory) is an approach to the study of human personality. Trait theorists are primarily interested in the measurement of ''traits'', which can be defined as habitual patterns of behaviour, tho ...

s. Persons with the G-

of the polymorphism may have higher personality score for the

NEO PI-R The Revised NEO Personality Inventory (NEO PI-R) is a personality inventory that assesses an individual on five dimensions of personality, the so-called Big Five personality traits. These traits are openness to experience, conscientiousness, ext ...

Neuroticism and TPQ

Harm Avoidance Harm avoidance (HA) is a personality trait characterized by excessive worrying; pessimism; shyness; and being fearful, doubtful, and easily fatigued. In MRI studies HA was correlated with reduced grey matter volume in the orbito-frontal, occipita ...

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 The Temperament and Character Inventory (TCI) is an inventory for personality traits devised by Cloninger et al. It is closely related to and an outgrowth of the Tridimensional Personality Questionnaire (TPQ), and it has also been related to the ...

self-transcendence Self-transcendence is a personality trait that involves the expansion of personal boundaries, including, potentially, experiencing spiritual ideas such as considering oneself an integral part of the universe. Several psychologists, including Vikto ...

scale for G-allele subjects among

mood disorder A mood disorder, also known as an affective disorder, is any of a group of conditions of mental and behavioral disorder where a disturbance in the person's mood is the main underlying feature. The classification is in the '' Diagnostic and St ...

patients.

Other SNPs

There are a number of other SNPs for the HTR1A gene: C549T, Ile28Val (rs1799921), Pro16Leu (rs1800041), Gly272Asp (rs1800042) and G294A (rs6294).

References

{{Use dmy dates, date=February 2021 SNPs on chromosome 5