Genetics Research
rs1328674
Population Frequencies12
African
T 0.09959C 0.90041TT 0.009961TC/CT 0.17926CC 0.810779pop=43,568
African American
T 0.09902C 0.90098TT 0.009802TC/CT 0.178427CC 0.811771pop=42,034
African Others
T 0.1154C 0.8846TT 0.014342TC/CT 0.202086CC 0.783572pop=1,534
Asian
T 0.0297C 0.9703TT 0.001428TC/CT 0.056555CC 0.942017pop=7,002
East Asian
T 0.031C 0.969TT 0.001399TC/CT 0.059112CC 0.939489pop=5,718
European
T 0.044028C 0.955972TT 0.002095TC/CT 0.083865CC 0.91404pop=380,874
Latin American 1
T 0.0836C 0.9164TT 0.00778TC/CT 0.151706CC 0.840515pop=6,684
Latin American 2
T 0.04439C 0.95561TT 0.002376TC/CT 0.084021CC 0.913603pop=15,996
Other
T 0.053C 0.947TT 0.004103TC/CT 0.097794CC 0.898102pop=11,698
Other Asian
T 0.0241C 0.9759TT 0.001558TC/CT 0.045171CC 0.953271pop=1,284
South Asian
T 0.0289C 0.9711TT 0.001119TC/CT 0.055597CC 0.943284pop=5,360
Studies22
Unread Studies22 ▼
1
Amaç: Trigeminal nevralji (TN) trigeminal sinirin bir veya birden fazla dalının dağılımalanında ani, genellikle tekrarlayan ağrı olması durumudur. Serotonin (5-HT) merkezisinir …
2
The Ten-Eleven Translocation 1 gene (TET1) is a member of the TET methyl cytosine dioxygenase family of enzymes (TET1, TET2, and TET3). The TET1 has contrasting roles in myeloid and lymphoid transformation being either an oncogene or a tumor suppressor. This work aimed to study the expression level of TET1 gene in acute leukemia patients and its correlation with the clinical and pathological criteria of these patients. Patients & methods: This study was conducted on 73 acute leukemia patients. Bone marrow samples were analyzed using Real-Time PCR 7500s. Results: There was a significant correlation between expression levels of TET 1 gene in acute leukemia patients and their clinical and pathological criteria. Conclusion :It has been found that expression levels of TET1 gene in patients’ samples were higher in AML, not otherwise specified (NOS), and T lymphoblastic leukemia/lymphoma patients and lower in B lymphoblastic leukemia/lymphoma, NOS patients. Besides, this study showed the significant relation between TET1 gene and the percentage of blast cells in peripheral blood (P.B) and bone marrow (B.M) and generalized lymphadenopathy. These findings revealed the great role of TET1 gene dysregulation in leukemogenesis; also its possible usage as a potential target for treating this form of hematopoietic malignancy.
3
Single nucleotide polymorphism (SNP)-set analysis in genome-wide association studies (GWASs) has become a hot topic. Most existing SNP-set analystic methods are designed and …
4
… This inhibition was more pronounced in carriers of the T and C alleles of rs6314 and rs1328674, respectively, in patients with RA. Moreover, we found an association between psoriatic …
5
… This inhibition was more pronounced in carriers of the T and C alleles of rs6314 and rs1328674, respectively, in patients with RA 37. Moreover, we found an association between …
6
Dysfunctional mechanisms in the serotonergic system have been implicated in suicidal behavior among patients with schizophrenia. However, previous association analyses of major serotonin genes have provided inconsistent findings regarding their role in suicidal behavior. The goal of the current study was to identify single-nucleotide polymorphisms (SNP) within HTR2A that directly affect CpG methylation sites in schizophrenic patients with suicidal behavior. Furthermore, direct methylation analysis was performed using genomic DNA from peripheral leukocytes employing bisulfite pyrosequencing to assess the contributions of six CpG sites in HTR2A exon I in 67 schizophrenia patients assessed for lifetime suicide attempt. Potential methylation in 25 CpG SNPs across the entire HTR2A gene was analyzed considering their direct contribution to methylation. When we compared direct methylation between attempters and nonattempters, we found that only the polymorphic T102C (rs6313) was significantly different between the two groups (p = 0.02). Furthermore, in the potential methylation analysis, we found a nominal association with suicide attempt for six of the 25 SNPs analyzed, i.e. rs2770293 (p = 0.045), rs6313 (p = 0.033), rs17068986 (p = 0.029), rs4942578 (p = 0.024), rs1728872 (p = 0.014), and rs9534511 (p = 0.003). The results of this investigation provide preliminary evidence that the combined analysis of CpG SNPs and methylation may be useful for investigating the genetic and epigenetic factors involved in suicidal behavior.
7
To identify putative relations between different genetic factors in the human genome in the development of common complex disease, we mapped the genetic data to an ensemble of spin chains and analysed the data as a quantum system. Each SNP is considered as a spin with three states corresponding to possible genotypes. The combined genotype represents a multispin state, described by the product of individual-spin states. Each person is characterized by a single genetic vector (GV) and individuals with identical GVs comprise the GV group. This consolidation of genotypes into GVs provides integration of multiple genetic variants for a single statistical test and excludes ambiguity of biological interpretation known for allele and haplotype associations. We analyzed two independent cohorts, with 2633 rheumatoid arthritis cases and 2108 healthy controls, and data for 6 SNPs from the HTR2A locus plus shared epitope allele. We found that GVs based on selected markers are highly informative and overlap for 98.3% of the healthy population between two cohorts. Interestingly, some of the GV groups contain either only controls or only cases, thus demonstrating extreme susceptibility or protection features. By using this new approach we confirmed previously detected univariate associations and demonstrated the most efficient selection of SNPs for combined analyses for functional studies.
8
We introduce new quantitative characteristics of the population using an analogy to the system of multi-spin molecules: the disease fields, which may depend on interactions, and the …
9
… Investigation of three populations with European ancestry demonstrated that two marker haplotypes (TC, rs6314 and rs1328674) of HTR2A interact with HLA-DRB1 SE alleles in the …
10
It is well known that intelligence consists of a variety of interactional and cognitive skills and abilities (e.g. tradecraft; critical and divergent thinking; perception of foreign information). Decision making is defined as the conscious choice between given options, relating to a problem. Both genetic background and environment comprise key elements for personality characteristics of the human being. The aim of this study is to determine the frequency distribution of rs324420, rs1800497, rs363050, rs6265, rs1328674 polymorphisms known to be involved in individual personality characteristics, in 830 Greek Subjects. The study is independent from direct clinical measurements (e.g. IQ measurements; physiological tests). The population of the volunteers is described, based on genotype, sex, with the respective gene frequencies, including the Minor Allele Frequency (MAF). A potential influence of the volunteer gender with the above characteristics (based on genotypes and alleles) is examined and finally, volunteers are classified as follows: A volunteer receives + 1, for each genotype/allele, which enhances his intelligence or his decision-making. In contrast, he receives − 1, for each genotype/allele, which relegates the individual characteristic. No statistically significant gender-characteristics correlation is observed. According to their genetic profile, a rate of 92.5%, of the volunteers may be characterized by prudence and temperance of thought, with only a small proportion of them (7.5%) may be classified as genetically spontaneous and adventurous. Regarding intelligence, the study population may lay around average and a little above it, at a rate of 96.3%, while the edges of the scale suggest only a 0.5% of the volunteers, who, although the “smartest”, somehow seem to lack prudence. In conclusion, individuals with low cognitive ability may be more prudent than others and vice versa, while the “smartest” ones tend to be more risky, in decision-making. Therefore, intelligence and decision-making may, after all, be less linked to each other than expected.
11
… Patients with established RA (n=379) were genotyped for two single-nucleotide polymorphisms in the HTR2A locus, rs6314 and rs1328674, to define presence of the risk haplotype for …
12
Functional analysis of genetic variants in association with human complex diseases remains a challenge for modern research. Discovery of gene–gene interactions may represent an …
13
Many genetic variants associate with the risk of developing rheumatoid arthritis (RA); however, their functional roles are largely unknown. Here, we aimed to investigate whether the RA-associated serotonin receptor 2A (HTR2A) haplotype affects T-cell and monocyte functions. Patients with established RA (n=379) were genotyped for two single-nucleotide polymorphisms (SNPs) in the HTR2A locus, rs6314 and rs1328674, to define presence of the risk haplotype for each individual. Patients with and without the RA-associated TC haplotype were selected and T-cell and monocyte function was monitored following in vitro stimulations with staphylococcal enterotoxin B and lipopolysaccharide (LPS) using multiparameter flow cytometry. Within the cohort, 44 patients were heterozygous for the TC haplotype (11.6%) while none were homozygous. Upon stimulation, T cells from TC-carrier patients produced more proinflammatory cytokines (tumor necrosis factor alpha (TNF-α), interleukin-17 (IL-17) and interferon gamma (IFN-γ)) and monocytes produced higher levels of TNF-α compared with patients carrying the non-TC haplotype (P<0.05 and 0.01, respectively). Such cytokine production could be inhibited in the presence of the selective 5-HT2 receptor agonist (2,5-Dimethoxy-4-iodoamphetamine, DOI); interestingly, this effect was more pronounced in TC carriers. Our data demonstrate that association of RA with a distinct serotonin receptor haplotype has functional impact by affecting the immunological phenotype of T cells and monocytes.
14
We introduce new quantitative characteristics of the population using an analogy to the system of multi-spin molecules: the disease fields, which may depend on interactions, and the susceptibility to disease as derivative of genetic vector's (GV's) frequency of cases with respect to these fields. The genetic vector's approach (GVA) is applied to statistical analysis of the interaction of two SNP haplotype of HTR2A and shared epitope (SE) alleles in relation to development of rheumatoid arthritis (RA). The analysis is performed for two independent …
15
Serotonin (5-HT), an amino acid derivative and neurotransmitter, has for long been studied in relation to inflammation. It is an endogenous ligand for several different types of serotonin receptors. The serotonin receptor 5-HT2A has been reported to have a role in the pathophysiology of arthritis in animal experiment models. However, no studies into this subject have been reported in man.
16
The function of the 5-HT2A receptor in the periphery is still largely unknown, but an increasing body of evidence shows effects of this receptor on immune responses. Rheumatoid arthritis (RA) is a common chronic inflammatory disease resulting from the complex interaction between genes and environment. Recently, the authors demonstrated that a haplotype in HTR2A, composed of the protective alleles of two SNPs (rs6314 and rs1328674) in HTR2A, is associated with protection against RA (Seddighzadeh, 2010). Our objective was to investigate whether presence of a RA-associated serotonin receptor 2A (HTR2A) haplotype (ie, TC) affect T cell and monocyte function. Materials and methods Patients with established RA (n=379) were genotyped for two SNPs in the HTR2A locus, rs6314 and rs1328674, and a haplotype was defined for each individual. PBMCs from 23 patients with or without the RA-associated TC-haplotype were selected for functional studies and cultured with and without a selective HTR2A agonist (2, 5-Dimethoxydimethoxy-4-iodoamphetamine, DOI). The authors targeted either T cells or monocytes for stimulation with staphylococcal enterotoxin B (SEB) and lipopolysaccharide (LPS), respectively. Following stimulation, the authors assessed cytokine levels intracellularly via FACS and in supernatants via CBA. Results Upon stimulation, T cells from TC-carrier patients produced more proinflammatory cytokines (TNFá, IFNã and IL-17) and monocytes produced higher levels of TNFá compared to patients carrying the non-TC haplotype. TC carriers also displayed greater inhibition of cytokine production through stimulation of the serotonin receptor 2 using the agonist DOI. Conclusion Our data demonstrate that association of RA with a distinct serotonin receptor haplotype has functional impact by affecting the immunological phenotype of T cells and monocytes.
17
Complex interactions between genes and environmental factors may result in destruction of the body’s own cells and tissues by the immune system, ie autoimmunity. Rheumatoid …
18
Rheumatoid arthritis (RA) can be divided into two major subsets based on the presence or absence of antibodies to citrullinated peptide antigens (ACPA). Until now, data …
19
Panic disorder (PD) is a serious and common psychiatric condition1 characterized mainly by recurrent episodes of intense, uncontrollable fear known as panic attacks. 2 The underlying …
20
It has repeatedly been suggested that the development of complex diseases can be elucidated by gene–gene interactions. Recently, we found that HTR2A, a member of the serotonin receptor family, is associated with rheumatoid arthritis (RA). This study was aimed to investigate the possibility of a gene–gene interaction between HTR2A and the major genetic risk factor for RA, HLA-DRB1 shared epitope (SE) alleles. We studied 4095 RA cases and 3223 controls from three different populations – from Sweden, the United States and the Netherlands – to test for interaction between the protective HTR2A haplotype and HLA-DRB1 SE alleles. Further, we analyzed mRNA and/or protein expression of HTR2A and HLA-DR in biopsy samples and in synovial fibroblasts from RA patients. The interaction was defined as departure from additivity of effects using attributable proportion due to interaction. First, we could demonstrate and further replicate an interaction between a protective haplotype in HTR2A and HLA-DRB1 SE alleles regarding risk of developing autoantibody-positive RA. Second, we could show that both genes are constitutively expressed in fibroblasts from synovial tissue of RA patients, and, by double immunofluorescence staining, we demonstrated that these two proteins are colocalized in these cells. In conclusion, our data demonstrate a statistical interaction between HTR2A and HLA-DRB1 SE alleles and colocalization of the product of these two genes in inflamed synovial tissue, which suggest a possible biological relationship between these two proteins. This finding may lead to the development of treatment based on enhancing the protective features of 5-HT2A in individuals with a certain HLA genotype.
21
To analyse the association between the genetic polymorphisms within the HTR2A gene for the serotonin receptor and rheumatoid arthritis (RA)...
22
… Patients with established RA (n=379) were genotyped for two single-nucleotide polymorphisms in the HTR2A locus, rs6314 and rs1328674, to define the presence of the risk haplotype …
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
No curated studies yet.
Unused Studies0 ▼
No unused studies.