Genetics Research
rs4272555
Population Frequencies12
African
T 0.44595C 0.55405TT 0.306911TC/CT 0.278079CC 0.415011pop=26,568
African American
T 0.44275C 0.55725TT 0.303395TC/CT 0.278721CC 0.417885pop=25,452
African Others
T 0.5188C 0.4812TT 0.387097TC/CT 0.263441CC 0.349462pop=1,116
Asian
T 0.0235C 0.9765TT 0.012063TC/CT 0.022919CC 0.965018pop=1,658
East Asian
T 0.0253C 0.9747TT 0.014859TC/CT 0.020802CC 0.964339pop=1,346
European
T 0.156912C 0.843088TT 0.07903TC/CT 0.155765CC 0.765205pop=118,512
Latin American 1
T 0.2003C 0.7997TT 0.116638TC/CT 0.167238CC 0.716123pop=2,332
Latin American 2
T 0.0783C 0.9217TT 0.047923TC/CT 0.060703CC 0.891374pop=3,756
Other
T 0.1741C 0.8259TT 0.094297TC/CT 0.159696CC 0.746008pop=2,630
Other Asian
T 0.016C 0.984TT 0TC/CT 0.032051CC 0.967949pop=312
South Asian
T 0.118C 0.882TT 0.076923TC/CT 0.082418CC 0.840659pop=364
Studies23
Unread Studies23 ▼
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… In a study conducted in Mexican population, five variants (rs547536, rs2192372, rs4272555, rs6318, and rs2428707) were analyzed and it was found for the rs4272555, association of …
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Signal transduction through G-proteins is a prominent feature of several eukaryotes. 5-HT2C receptor, a G-protein-coupled receptor (GPCR), is a candidate of interest for the treatment of several neuropsychiatric diseases owing to its expression profile, signalling, and neuronal functions. In this mini-review and analysis paper, we provide background literature on the unique biochemical, structural, pharmacological, and genetics of the 5-HT2c receptor. We conduct in silico epigenetic analysis of the promoter and flanking regions and histone marks. Further, evolutionary and phylogenetic analysis of the 5HT2C gene and Cys23ser substitution using bioinformatics tools. Our results implicate alterations in DNA methylation and associated regulatory elements in the promoter and upstream which could impact gene expression, inactivation, genome stabilization, and inheritance. The cys23ser substitution analysis using a suite of methods suggests a plausible effect on the 3D protein structure. The additional cysteine amino acids in human receptors could enable additional structural stability to the protein to aid the modulation of behavioural traits under evolutionary pressure. The results have implications for the role of 5HT2C in the central nervous system (CNS).
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Suicide is defined as the action of harming oneself with the intention of dying. It is estimated that worldwide one suicide occurs every 40 seconds, making it a major health problem. …
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Suicide is defined as the action of harming oneself with the intention of dying. It is estimated that worldwide one suicide occurs every 40 seconds, making it a major health problem. …
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… nucleotide polymorphisms (rs4272555 and rs2428707) of the serotonin receptor HTR2C gene (Xq23 localization) are associated with suicidal attempts. The rs4272555 allele was …
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Цель работы - систематизация и интерпретация находящихся в свободном доступе, разрозненных, ранее установленных данных об ассоциации частот совершаемых суицидов с гендерными (половыми) генетическими различиями, конечным итогом которой является формирование представления о различных паттернах генов, формирующих суицидальный фенотип у мужчин и женщин как минимум двумя разными генетически реализуемыми путями. В статье рассмотрены вопросы биологических причин формирования суицидального фенотипа как следствие генетической программы, реализуемой в результате взаимодействия паттерна полиморфных генов. В результате расчёта коэффициента гендерной суицидальности (КГС - частное от деления относительных показателей частот суицидов у мужчин на частоты суицидов у женщин, полученные по данным ВОЗ по состоянию на 2019) сделан вывод, что величина КГС в целом постоянна и не зависит от климатических, географических, экономических, социальных и прочих внешних факторов. То есть, определена генным фондом человечества. При анализе данных литературы, взятых в базе pubmed.ncbi.nlm.nih.gov, примерно за 20-летний период, о генетических различиях суицидентов мужчин и женщин исключали работы, в которых суициды или суицидальные попытки совершались на фоне тяжёлых психических расстройств, либо отдельных аддикций, или в связи с актами насилия. Собранные сведения позволили свести воедино два паттерна генов, формирующих суицидальный фенотип у мужчин и женщин соответственно. Большая часть генов, ассоциируемых с суицидами у мужчин преимущественно локализована на коротком плече хромосомы Х, и хромосоме 22, а также на хромосомах 1, 2, 5, 7, 11, 19. Кроме того, у мужчин суициды ассоциированы с возрастной аберрантной потерей хромосомы Y клетками крови. У женщин с суицидами ассоциированы гены, локализованные на хромосомах 7, 10, 11, 17 и ген HTR2C локус Xq23. Так же должен существовать третий не связанный с полом паттерн ассоциируемых с суицидом генов. Сделаны выводы, что 1) существуют полоспецифичные паттерны генетических полиморфизмов, совокупная активность которых завершается суицидом в определённые возрастные периоды, что определяет дожитие их носителей до возраста совершения суицида; 2) носительство таких паттернов в геноме может быть расценено как мультифакториальное состояние, исходом которого является смерть в результате совершения суицида, а не функционального возрастного истощения каких-либо систем органов. (The purpose of the work is to systematize and interpret freely available, scattered, previously established data on the association of suicide frequencies with gender (sex) genetic differences, the final result of which is the formation of an idea of different patterns of genes that form the suicidal phenotype in men and women in at least two different genetically realized ways. The article discusses the biological reasons for the formation of a suicidal phenotype as a consequence of a genetic program implemented as a result of the interaction of a polymorphic gene pattern. As a result of the calculation gender suicide rate (KGS is the quotient of the division of relative frequency indicators suicides in men on frequencies suicidesin women, based on WHO data as of 2019), it was concluded that the value of CGS is generally constant and does not depend on climatic, geographical, economic, social and other external factors. That is, determined by the gene fund of humanity. When analyzing literature data taken from the database pubmed.ncbi.nlm.nih.gov, for approximately a 20-year period, on the genetic differences between male and female suicides, work in which suicides or suicidal attempts were committed against the background of severe mental disorders, or individual addictions, or in connection with acts of violence. The collected information made it possible to bring together two patterns of genes that form the suicidal phenotype in men and women, respectively. Most of the genes associated with suicide in men are predominantly localized on the short arm of chromosome X, and chromosome 22and also on chromosomes 1, 2, 5, 7, 11, 19. In addition, in men suicides associated with age-related aberrant loss of chromosome Y by blood cells. In women with by suicide genes localized on chromosomes 7, 10, 11, 17 and the HTR2C gene locus Xq23 are associated. There must also be a third non-gender pattern of suicide-associated genes. Conclusions are drawn that 1) there are strip-specific patterns of genetic polymorphisms whose cumulative activity is completed suicide at certain age periods, which determines the survival of their carriers to the age of suicide; (2) Carrying such patterns in the genome can be regarded as a multifactorial state, the outcome of which is death as a result of commission suicide, rather than functional age-related depletion of any organ systems.)
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A pesar de que los individuos con trastorno por uso de sustancias (TUS) tienen un alto riesgo suicida, la mayoría de los estudios de expresión génica en suicidio han excluido a los …
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… Meksikoje atlikto tyrimo metu nustatytas ryšys tarp savižudybės idėjos ir tam tikrų seratonino receptoriaus (HTR2C) geno variantų, įvardinant rs2428707 ir rs4272555 polimorfizmą kaip …
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Background The aim of this case–control study was to explore the association by gender between the HTR2C gene variants and suicidal behavior in a Mexican population. Subjects and methods A total of 183 suicide attempters and 208 healthy volunteers were included in this study. We genotyped five polymorphisms of HTR2C (rs547536, rs2192372, rs4272555, rs6318, and rs2428707), then measured the association by genotype, allele, and haplotype. Results In the female group, we found an association between two polymorphisms of the HTR2C (rs4272555 and rs2428707) and suicide attempts. The C allele of the single-nucleotide polymorphism (SNP) rs4272555 was associated with a decreased risk of suicide attempt (P=0.01, odds ratio =0.26, 95% confidence interval: 0.09–0.79), whereas the G allele of the SNP rs2428707 was associated with an increased risk of suicide attempt (P=0.01, odds ratio =3.68, 95% confidence interval: 1.24–10.90). No significant association was observed between the other polymorphisms studied (rs547536, rs2192372, rs6318) or haplotypes with suicide attempts. Conclusion These findings suggest a possible risk factor of the HTR2C gene in the pathology of suicidal behavior in Mexican population. More studies are necessary to confirm this association.
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… In particular, it aims to focus on rs547536, rs2192372, rs4272555, rs24287207 and rs6318 … The SNPs in the study will be rs547536, rs2192372, rs4272555, rs24287207 and rs6318. …
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Background Suicidal behavior is a leading cause of injury and death worldwide. Several studies have provided a possible relationship between genetic factors and suicidal behavior. Also, these studies have shown evidence for altered serotonergic neural transmission in the pathogenesis of suicidal behavior. In addition, genes pertaining to the serotonergic system have been proposed as candidates to establish biological correlates between suicidal behavior and the serotonergic system. The most studied genes are SCL6A4, HTR2A, HTR2C, HTR1A, HTR1B, TPH-1, and TPH-2. To get a comprehensive understanding of the association with suicidal behavior we will conduct genotype assays studies in a Mexican population.
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Major depression (MD) is a major health problem, partly due to the incomplete understanding of the pathogenic mechanisms of the disease. Research efforts have mainly focused on …
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Three 5HTR2C polymorphisms were investigated in bipolar (BD) spectrum disorders. The functional rs6318 G (Cys) allele was more frequent in BD patients than in controls (P = 0.0036). Thus, 5HTR2C may have a role in BD. Further investigation is required to understand its involvement in co-morbidity for substance use disorders (SUDs).
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Serotonin has been extensively studied in relation to both personality features and suicidal behaviours. OBJECTIVE: In this study, we considered the association …
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The dopamine D3 receptor (D3R) is preferentially localized in the limbic system and may be involved in the pathophysiology of various neuropsychiatric disorders. Animal …
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There has been extensive research concerning the role of the serotonin transporter gene (SLC64A) in depression. The STin2 VNTR polymorphism in the second intron has …
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Anorexia nervosa is a serious eating disorder with highest mortality among psychatric disorders. DSM-IV classification differentiates two type of Anorexia Nervosa …
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P0309-Voltammetric determination of neurotransmitters as biochemical markers in psychiatric diseases
In the medical field, the monitoring of the neurotransmitters in depressive patients represents a major demand focusing of course on the health state of the patients, with social and …
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Behaviorally, adopted children responded more slowly to the change command than age-matched controls (p< 0.05). In the fMRI, adopted children exhibited significantly higher …
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Serotonin and dopamine neurotransmitters have been extensively studied in association with temperamental and character traits.Objective:In the present study we …
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Behaviorally, adopted children responded more slowly to the change command than age-matched controls (p< 0.05). In the fMRI, adopted children exhibited significantly higher activations than controls in the left motor (BA 4) and right inferior frontal cortex (BA 44) during go trials, and right precentral (BA 6) activity during successful change trials. By contrast, controls, relative to the adopted group, showed greater right caudate nucleus activation during failed changes.
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The serotonin 2C (HTR2C) and 1A (HTR1A) receptors have been involved in suicide‐related behaviors. We studied gene variants of both receptors in suicide attempters and completers…
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1 Zusammenfassung Die kognitiven Fähigkeiten eines Individuums stehen sowohl unter dem Einfluss umweltbedingter als auch genetischer Faktoren. Natürlich auftretende genetische …
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