In
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 ...
, rs1800955 (also written as C-521T and -521C/T) is 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) located in the
promoter region of the ''
DRD4'' gene.
This gene codes for the
dopamine receptor
Dopamine receptors are a class of G protein-coupled receptors that are prominent in the vertebrate central nervous system (CNS). Dopamine receptors activate different effectors through not only G-protein coupling, but also signaling through diff ...
D4.
Due to the
dopamine hypothesis of schizophrenia
The dopamine hypothesis of schizophrenia or the dopamine hypothesis of psychosis is a model that attributes the positive symptoms of schizophrenia to a disturbed and hyperactive dopaminergic signal transduction. The model draws evidence from the ...
, the SNP has been investigated for its link to
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 ...
, and it may be slightly associated with this disorder.
The SNP has been investigated with respect to
novelty seeking
In psychology, novelty seeking (NS) is a personality trait associated with exploratory activity in response to novel stimulation, impulsive decision making, extravagance in approach to reward cues, quick loss of temper, and avoidance of frustrati ...
, — a
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 behavior, thou ...
that may be 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 ...
.
A 2008
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 ...
indicates a possible association between novelty seeking and C-521T, though rather small.
References
Other
Table 4from "The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes"
SNPs on chromosome 11
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