Rs6311
Encyclopedia
In genetics
Genetics
Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....

 rs6311 is a gene variation—a single nucleotide polymorphism
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 human HTR2A 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...

 that codes for the 5-HT2A receptor. 5-HT2A is neuroreceptor, and several scientific studies have investigated the effect of the genetic variation on personality, e.g., personality traits measured with the 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 ,...


or with a psychological task measuring impulsive behavior.
The SNP has also been investigated in rheumatology
Rheumatology
Rheumatology is a sub-specialty in internal medicine and pediatrics, devoted to diagnosis and therapy of rheumatic diseases. Clinicians who specialize in rheumatology are called rheumatologists...

 studies.

Some research studies may refer to this gene variation as a C/T SNP, while others refer to it as a G/A polymorphism in the promoter region, thus writing it as, e.g., −1438 G/A or 1438G>A.

, meta-analysis
Meta-analysis
In statistics, a meta-analysis combines the results of several studies that address a set of related research hypotheses. In its simplest form, this is normally by identification of a common measure of effect size, for which a weighted average might be the output of a meta-analyses. Here the...

 of research studies indicates that people with the A-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...

 may have slightly elevated risk of 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...

.

rs6313
Rs6313
In genetics, rs6313 also called T102C or C102T is a gene variation—a single nucleotide polymorphism —in the human HTR2A gene that codes for the 5-HT2A receptor....

, rs6314
Rs6314
In genetics, rs6314, also called His452Tyr or H452Y, is a gene variation, a single nucleotide polymorphism , in the HTR2A gene that codes for the 5-HT2A receptor....

, and rs7997012
Rs7997012
In genetics, rs7997012 is a gene variation—a single nucleotide polymorphism —in intron 2 of the human HTR2A gene that codes for the 5-HT2A receptor.The SNP varies between adenine and guanine DNA bases with the G-allele being most frequent....

are other investigated SNPs in the HTR2A gene.
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