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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 gene where it is involved in coding the 34th amino acid as serine. As 5-HT2A is a neuroreceptor the SNP has been investigated in connection with brain functions and neuropsychiatric disorders, and it is perhaps the most investigated SNP for its gene. Two other SNPs in HTR2A have also received much attention: rs6311 and His452Tyr (rs6314). The T102C polymorphism has been shown to be in complete linkage disequilibrium with the rs6311 (A-1438G). A less well investigated SNP of this gene is rs7997012. Meta-analyses seem to indicate that the SNP is not directly associated with schizophrenia, not with Alzheimer's disease, and two initial studies seem to indicate that it is not associated with Parkinson's disease. There have been multiple s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 short for 5-hydroxy-tryptamine or serotonin. This is the main excitatory receptor subtype among the GPCRs for serotonin, although 5-HT2A may also have an inhibitory effect on certain areas such as the visual cortex and the orbitofrontal cortex. This receptor was first noted for its importance as a target of serotonergic psychedelic drugs such as LSD and psilocybin mushrooms. Later it came back to prominence because it was also found to be mediating, at least partly, the action of many antipsychotic drugs, especially the atypical ones. Downregulation of post-synaptic 5-HT2A receptor is an adaptive process provoked by chronic administration of selective serotonin reuptake inhibitors (SSRIs) and atypical antipsychotics. Suicidal and otherwis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rs7997012
In genetics, rs7997012 is a gene variation—a single nucleotide polymorphism (SNP)—in intron 2 of the human HTR2A gene that codes for the 5-HT2A receptor. The SNP varies between adenine (A) and guanine (G) DNA bases with the G-allele being most frequent. A research study found it to be related to antidepressant treatment. The research group reported that a polymorphism (rs1954787) on another gene, the GRIK4, 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 or bipolar disorder. Rs6311, rs6313 and His452Tyr In genetics, rs6314, also called His452Tyr or H452Y, is a gene variation, a single nucleotide polymorphism (SNP), in the ''HTR2A'' gene that codes for the 5-HT2A receptor. The SNP is located in exon 3 of the gene and the change between C and T re ... (rs6314) are other SNPs in the HTR2A gene. There are many more, even in intron 2 alone. References SNPs on c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
His452Tyr
In genetics, rs6314, also called His452Tyr or H452Y, is a gene variation, a single nucleotide polymorphism (SNP), in the ''HTR2A'' gene that codes for the 5-HT2A receptor. The SNP is located in exon 3 of the gene and the change between C and T results in a change between histidine (His) and tyrosine (Tyr) at the 452nd amino acid, i.e., it is a missense substitution. As 5-HT2A is a neuroreceptor the SNP has been investigated in connection with neuropsychiatric disorders and other brain-related variables. A 2003 study looked at memory performance and found that His/His subjects performed better. Another study reported that the SNP had an effect on the memory performance in young adults. This has been replicated by another group. The His452Tyr variant may influence cell signaling. rs6311, 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. Th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rs6311
In genetics, rs6311 is a gene variation—a single nucleotide polymorphism (SNP)—in the human ''HTR2A'' gene that codes for the 5-HT2A receptor. 5-HT2A is a 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 or with a psychological task measuring impulsive behavior. The SNP has also been investigated in rheumatology 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 of research studies indicates that people with the A-allele may have slightly elevated risk of schizophrenia Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the con ... [...More Info...] [...Related Items...] OR: [Wikipedia] |
