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 Augustinian friar wor ...
, rs7997012 is a gene variation—a
single nucleotide polymorphism
In genetics, 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 a sufficiently larg ...
(SNP)—in
intron
An intron is any nucleotide sequence within a gene that is not expressed or operative in the final RNA product. The word ''intron'' is derived from the term ''intragenic region'', i.e. a region inside a gene."The notion of the cistron .e., gene. ...
2 of the human
HTR2A
The 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 (GPCR). The 5-HT2A receptor is a cell surface receptor, but has several intracellular locations. 5-HT is sh ...
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 ba ...
that codes for the
5-HT2A receptor.
The SNP varies between
adenine
Adenine () ( symbol A or Ade) is a nucleobase (a purine derivative). It is one of the four nucleobases in the nucleic acid of DNA that are represented by the letters G–C–A–T. The three others are guanine, cytosine and thymine. Its derivati ...
(A) and
guanine
Guanine () ( symbol G or Gua) is one of the four main nucleobases found in the nucleic acids DNA and RNA, the others being adenine, cytosine, and thymine (uracil in RNA). In DNA, guanine is paired with cytosine. The guanine nucleoside is called ...
(G) DNA bases with the G-allele being most frequent.
A research study found it to be related to
antidepressant
Antidepressants are a class of medication used to treat major depressive disorder, anxiety disorders, chronic pain conditions, and to help manage addictions. Common side-effects of antidepressants include dry mouth, weight gain, dizziness, hea ...
treatment.
The research group reported that a polymorphism (
rs1954787
Rs1954787 is a gene variation, a single nucleotide polymorphism (SNP) in the GRIK4 gene.
A study has reported that this Polymorphism (biology), polymorphism is associated with success of antidepressant treatment.
References
{{Reflist
SNPs on ...
) on another gene, the
GRIK4
GRIK4 (''glutamate receptor, ionotropic, kainate 4'') is a kainate receptor subtype belonging to the family of ligand-gated ion channels which is encoded by the gene.
Function
This gene encodes a protein that belongs to the glutamate-gated ioni ...
, has also shown a treatment-response-association in this kind of treatment.
In a Japanese study rs7997012 was not associated with either
major depressive disorder
Major depressive disorder (MDD), also known as clinical depression, is a mental disorder characterized by at least two weeks of pervasive low mood, low self-esteem, and loss of interest or pleasure in normally enjoyable activities. Introdu ...
or
bipolar disorder
Bipolar disorder, previously known as manic depression, is a mental disorder characterized by periods of depression and periods of abnormally elevated mood that last from days to weeks each. If the elevated mood is severe or associated with ...
.
Rs6311
In genetics, rs6311 is a gene variation—a single nucleotide polymorphism (SNP)—in the human ''HTR2A'' gene that codes for the 5-HT2A, 5-HT2A receptor (biology), receptor. 5-HT2A is a neuroreceptor, and several scientific studies have investigat ...
,
rs6313
In genetics, rs6313 also called T102C or C102T is a gene variation—a single nucleotide polymorphism (SNP)—in the human ''HTR2A'' gene that codes for the 5-HT2A receptor.
The SNP is a synonymous substitution located in exon 1 of the ge ...
and
His452Tyr (rs6314) are other SNPs in the HTR2A gene.
There are many more, even in intron 2 alone.
References
SNPs on chromosome 13
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