genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian ...

, rs6311 is a gene variation—a

single nucleotide polymorphism In genetics and bioinformatics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in ...

(SNP)—in the human ''

HTR2A The 5-HT2A receptor is a subtype of the 5-HT2 receptor, 5-HT2 receptor that belongs to the serotonin receptor family and functions as a GPCR, G protein-coupled receptor (GPCR). It is a cell surface receptor that activates multiple intracellular ...

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

that codes for the 5-HT_2A

receptor Receptor may refer to: * Sensory receptor, in physiology, any neurite structure that, on receiving environmental stimuli, produces an informative nerve impulse *Receptor (biochemistry), in biochemistry, a protein molecule that receives and respond ...

. 5-HT_2A is a

neuroreceptor A neurotransmitter receptor (also known as a neuroreceptor) is a membrane receptor protein that is activated by a neurotransmitter. Chemicals on the outside of the cell, such as a neurotransmitter, can bump into the cell's membrane, in which the ...

, 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 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 ...

or with a psychological task measuring impulsive behavior. The SNP has also been investigated in

rheumatology Rheumatology () is a branch of medicine devoted to the diagnosis and management of disorders whose common feature is inflammation in the bones, muscles, joints, and internal organs. Rheumatology covers more than 100 different complex diseases, c ...

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 is a method of synthesis of quantitative data from multiple independent studies addressing a common research question. An important part of this method involves computing a combined effect size across all of the studies. As such, th ...

of research studies indicates that people with the A-

allele An allele is a variant of the sequence of nucleotides at a particular location, or Locus (genetics), locus, on a DNA molecule. Alleles can differ at a single position through Single-nucleotide polymorphism, single nucleotide polymorphisms (SNP), ...

may have slightly elevated risk of

schizophrenia Schizophrenia () is a mental disorder characterized variously by hallucinations (typically, Auditory hallucination#Schizophrenia, hearing voices), delusions, thought disorder, disorganized thinking and behavior, and Reduced affect display, f ...

. rs6313, rs6314, and rs7997012 are other investigated SNPs in the HTR2A gene.

References

SNPs on chromosome 13 {{genetics-stub