Rs6311
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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 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. rs6313, rs6314, and rs7997012 are other investigated SNPs in the HTR2A gene. References

SNPs on chromosome 13 {{genetics-stub ...
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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 otherwise ...
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5-HT2A
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 otherwise ...
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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 stud ...
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Rs6314
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. The S ...
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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 incr ...
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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 ...
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Neurobiology Of Aging
''Neurobiology of Aging'' is a peer-reviewed monthly scientific journal published by Elsevier. The editor-in-chief is Peter R. Rapp. ''Neurobiology of Aging'' publishes research in which the primary emphasis addresses the mechanisms of nervous system-changes during aging and in age-related diseases. Approaches are behavioral, biochemical, cellular, molecular, morphological, neurological, neuropathological, pharmacological, and physiological. Abstracting and indexing ''Neurobiology of Aging'' is abstracted and indexed in * BIOSIS, * Current Contents/Life Sciences, * EMBASE, * MEDLINE, * PsycINFO, * Research Alert, * Science Citation Index, * Scopus. According to the ''Journal Citation Reports'', ''Neurobiology of Aging'' has a 2020 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in ...
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Schizophrenia Research Forum
Schizophrenia Research Forum is a web knowledge environment dedicated to news, information resources, and discussion about research on schizophrenia. It hosts a number of resources such as What We Know About Schizophrenia, Animal Models and Drugs in Trials. It also hosts the ''SzGene'' database, an unbiased field synopsis of genetic association studies performed in schizophrenia, though this database is no longer updated. The Schizophrenia Forum was founded in 2005 by science editor Hakon Heimer as a project of the National Alliance for Research on Schizophrenia and Depression (now called the Brain & Behavior Research Foundation, with start-up funding from the National Institute of Mental Health and technical assistance from the Alzheimer Research Forum Alzheimer Research Forum (ARF), or Alzforum is a website which uses web technology to accelerate research into Alzheimer's disease. History The website was founded in 1996 by June Kinoshita, funded by an anonymous philanthropic fo ...
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Schizophrenia
Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdrawal, decreased emotional expression, and apathy. Symptoms typically develop gradually, begin during young adulthood, and in many cases never become resolved. There is no objective diagnostic test; diagnosis is based on observed behavior, a history that includes the person's reported experiences, and reports of others familiar with the person. To be diagnosed with schizophrenia, symptoms and functional impairment need to be present for six months (DSM-5) or one month (ICD-11). Many people with schizophrenia have other mental disorders, especially substance use disorders, depressive disorders, anxiety disorders, and obsessive–compulsive disorder. About 0.3% to 0.7% of people are diagnosed with schizophrenia during their lifetime. In 2 ...
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Allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chromosomal or genomic location of a gene or any other genetic element is called a locus (plural: loci) and alternative DNA sequences at a locus are called alleles." The simplest alleles are single nucleotide polymorphisms (SNP). but they can also be insertions and deletions of up to several thousand base pairs. Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles (variants). In population genetics, nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. Most alleles observed result in little or no change in the function of the gene product it codes for. However, ...
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Meta-analysis
A meta-analysis is a statistical analysis that combines the results of multiple scientific studies. Meta-analyses can be performed when there are multiple scientific studies addressing the same question, with each individual study reporting measurements that are expected to have some degree of error. The aim then is to use approaches from statistics to derive a pooled estimate closest to the unknown common truth based on how this error is perceived. Meta-analytic results are considered the most trustworthy source of evidence by the evidence-based medicine literature.Herrera Ortiz AF., Cadavid Camacho E, Cubillos Rojas J, Cadavid Camacho T, Zoe Guevara S, Tatiana Rincón Cuenca N, Vásquez Perdomo A, Del Castillo Herazo V, & Giraldo Malo R. A Practical Guide to Perform a Systematic Literature Review and Meta-analysis. Principles and Practice of Clinical Research. 2022;7(4):47–57. https://doi.org/10.21801/ppcrj.2021.74.6 Not only can meta-analyses provide an estimate of the un ...
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Metabolic Syndrome And Related Disorders
Metabolism (, from el, μεταβολή ''metabolē'', "change") is the set of life-sustaining chemical reactions in organisms. The three main functions of metabolism are: the conversion of the energy in food to energy available to run cellular processes; the conversion of food to building blocks for proteins, lipids, nucleic acids, and some carbohydrates; and the elimination of metabolic wastes. These enzyme-catalyzed reactions allow organisms to grow and reproduce, maintain their structures, and respond to their environments. The word metabolism can also refer to the sum of all chemical reactions that occur in living organisms, including digestion and the transportation of substances into and between different cells, in which case the above described set of reactions within the cells is called intermediary (or intermediate) metabolism. Metabolic reactions may be categorized as ''catabolic'' – the ''breaking down'' of compounds (for example, of glucose to pyruvate by cel ...
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