HTR2A gene polymorphisms and Inward and Outward Personal Meaning Organisations

2012 ◽  
Vol 24 (6) ◽  
pp. 336-343 ◽  
Author(s):  
Bernardo Nardi ◽  
Francesco Piva ◽  
Chiara Turchi ◽  
Matteo Giulietti ◽  
Gianni Castellucci ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Serotonin Receptor ◽  
Physical Distance ◽  
Personal Meaning ◽  
Nucleotide Polymorphisms ◽  
Activation Patterns ◽  
Environmental Signals ◽  
Fmri Study ◽  
Htr2a Gene

Nardi B, Piva F, Turchi C, Giulietti M, Castellucci G, Arimatea E, Rocchetti D, Rocchetti G, Principato G, Tagliabracci A, Bellantuono C. HTR2A gene polymorphisms and Inward and Outward Personal Meaning Organisations.Objective: Caregiver behaviours and emotional expressions may induce development of two basic categories of constructing identity and of regulating cognitive and emotional processes: an Inward or an Outward Personal Meaning Organisation (PMO). Inwards read environmental signals through their internal activations. Their emotions are more distinct, and reciprocity is more based on physical distance (protection, loneliness). Outwards read internal activations through the environment. Their emotions are more blurred, and reciprocity is more based on a semantic sight of relations (approval, rules).It has recently been shown that PMO development may also have physiological and genetic bases. In a functional magnetic resonance imaging (fMRI) study, Inward and Outward subjects showed different amygdala activation patterns and an association with the SLC6A4 serotonin transporter gene 5-HTTLPR polymorphism.Methods: In this work, 149 healthy subjects were examined with respect to Inward and Outward PMOs. We explored the association with 10 serotonin receptor 2A (HTR2A) gene single nucleotide polymorphisms (SNPs) selected by bioinformatics methods.Results: An intronic SNP (rs55948462) was found to be significantly associated with an Inward and an Outward PMOs development. However, after statistical adjustments, these results did not remain significant.Conclusion: We did not find associations between considered SNPs and Inward/Outward PMOs. However, the role of HTR2A polymorphisms was not considered in this study and that of the other serotonin-related genes should be valued.

scholarly journals The Association Between the Serotonin Receptor Type 1B (HTR1B) Gene rs13212041 Polymorphism and Trait Anxiety in China Han College Subjects

2021 ◽  
Author(s):  
Xiaofei Ruan ◽  
Suwen Fang ◽  
qi zheng ◽  
Senqing Qi ◽  
Yingfang Tian ◽  
...  
Keyword(s):  
Emotional Disorders ◽  
Trait Anxiety ◽  
Gene Polymorphisms ◽  
Serotonin Receptor ◽  
Protective Factor ◽  
Receptor Type ◽  
Personality Factor ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Development Of Anxiety

Abstract Trait anxiety is a vulnerable personality factor for anxiety and depression. High levels of trait anxiety confer elevated risk for the development of anxiety and other psychiatric disorders. There is evidence that serotonin receptor type 1B (5-HT1B) gene polymorphisms play an important role in emotional disorders. Genotyping for four single-nucleotide polymorphisms (SNP) (rs11568817, rs130058, rs6297 and rs13212041) was conducted for 388 high trait-anxious (HTA) individuals and 463 low trait-anxious (LTA) individuals in China Han college subjects. The results showed that the frequency of the C-allele and TC+CC genotype in rs13212041 in the LTA individuals was higher than that in the HTA individuals (p = 0.025 and p = 0.014, respectively). Both the C-allele and TC+CC genotype were associated with trait anxiety decreasing (OR = 0.771 and OR = 0.71, respectively). Furthermore, different gene models analysis also showed that the C allele is a protective factor in trait anxiety in Chinese Han college subjects. These findings suggest that the variance in 5-HT1B gene polymorphisms may play a role in trait anxiety in China Han college subjects. The rs13212014 polymorphism may be involved in decreasing the risk of trait anxiety. These results also provide a novel insight into the molecular mechanism about trait anxiety.

Role of BANK1 Gene Polymorphisms in Biopsy-proven Giant Cell Arteritis

2010 ◽  
Vol 37 (7) ◽  
pp. 1502-1504 ◽  
Author(s):  
ORLANDO TORRES ◽  
ROGELIO PALOMINO-MORALES ◽  
SANTOS CASTAÑEDA ◽  
TOMAS R. VAZQUEZ-RODRIGUEZ ◽  
INMACULADA C. MORADO ◽  
...  
Keyword(s):  
Giant Cell Arteritis ◽  
Giant Cell ◽  
Gene Polymorphisms ◽  
Genetic Locus ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Antigen Receptors ◽  
Functional Variants ◽  
First Time

Objective.Giant cell arteritis (GCA) is a complex polygenic disease in which more than 1 genetic locus is likely to contribute to disease susceptibility and clinical expression. BANK, an adaptor molecule, has been suggested to participate in the B cell antigen receptors-mediated calcium homeostasis. We assessed for the first time the implication of BANK1 functional variants in susceptibility to GCA.Methods.Two hundred twenty-two patients with biopsy-proven GCA and 534 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for 3 putative functional BANK1 gene polymorphisms (rs17266594 T/C, rs10516487 G/A, rs3733197 G/A) using a TaqMan allele discrimination assay.Results.No significant differences were observed in genotype distribution between patients with biopsy-proven GCA and controls for these 3 gene polymorphisms. A trend for a decreased risk of having GCA was observed in individuals carrying the BANK1 rs3733197 GG genotype (patients with GCA 43.9% compared to 51.6% in controls; p = 0.06, OR 0.73, 95% CI 0.53–1.02). The frequency of BANK1 rs3733197 allele G was marginally decreased in patients with biopsy-proven GCA compared to controls (p = 0.09, OR 0.82, 95% CI 0.64–1.04). Haplotype analysis of 3-single-nucleotide polymorphisms found no statistically significant differences between patients with GCA and controls. No significant differences for the BANK1 gene polymorphisms were found when patients were stratified according to specific clinical features of the disease.Conclusion.Our results do not support a major implication of the BANK1 locus in susceptibility to GCA.

Exploring AT2R and its polymorphism in different diseases: An approach to develop AT2R as a drug target beyond hypertension

2021 ◽  
Vol 22 ◽  
Author(s):  
Bhanu Sharma ◽  
Tahir Hussain ◽  
Mohammed Azhar Khan ◽  
Varun Jaiswal
Keyword(s):  
Gene Polymorphisms ◽  
Drug Target ◽  
Renin Angiotensin System ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Angiotensin System ◽  
Its Gene ◽  
Critical Components

: The Angiotensin II type 2 receptor (AT2R) is one of the critical components of the renin-angiotensin system (RAS), which performs diverse functions like inhibiting cell differentiation, cell proliferation, vasodilatation, reduces oxidative stress and inflammation. AT2R is relatively less studied in comparison to other components of RAS despite its uniqueness (sex-linked) and diverse functions. The AT2R is differentially expressed in different tissues, and its gene polymorphisms are associated with several diseases. The molecular mechanism behind the association of AT2R and its gene polymorphisms with the diseases remains to be fully understood, which hinders the development of AT2R as a drug target. Single nucleotide polymorphisms (SNPs) in AT2R are found at different locations (exons, introns, promoter, and UTR regions) and were studied for association with different diseases. There may be different mechanisms behind these associations as some AT2R SNP variants were associated with differential expression, the SNPs (A1675G/A1332G) affect the alternate splicing of AT2R mRNA, A1332G genotype results in shortening of the AT2R mRNA and subsequently defective protein. Few SNPs were found to be associated with the diseases in either females (C4599A) or males (T1334C). Several other SNPs were expected to be associated with other similar/related diseases, but studies have not been done yet. The present review emphasizes on the significance of AT2R and its polymorphisms associated with the diseases to explore the precise role of AT2R in different diseases and the possibility to develop AT2R as a potential drug target.

scholarly journals Role of ADAM33 Gene and Associated Single Nucleotide Polymorphisms in Asthma

2011 ◽  
Vol 2 (2) ◽  
pp. ar.2011.2.0018 ◽  
Author(s):  
Neeraj Sharma ◽  
Priya Tripathi ◽  
Shally Awasthi
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Ethnic Groups ◽  
Gene Polymorphisms ◽  
Airway Remodeling ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pubmed Search ◽  
Different Populations ◽  
Genetic And Environmental Factors

Asthma is a multifactorial disorder, primarily resulting from interactions between genetic and environmental factors. ADAM33 gene (located on chromosome 20p13) has been reported to play an important role in asthma. This review article is intended to include all of the publications, to date, which have assessed the association of ADAM33 gene polymorphisms as well as have shown the role of ADAM33 gene in airway remodeling and their expression with asthma. A PubMed search was performed for studies published between 1990 and 2010. The terms “ADAM33,” “ADAM33 gene and asthma,” and “ADAM33 gene polymorphisms” were used as search criteria. Based on available literature we can only speculate its role in the morphogenesis and functions of the lung. Fourteen studies conducted in different populations were found showing an association of ADAM33 gene polymorphisms with asthma. However, none of the single nucleotide polymorphisms (SNPs) of ADAM33 gene had found association with asthma across all ethnic groups. Because higher expression of ADAM33 is found in the fibroblast and smooth muscle cells of the lung, over- or underexpression of ADAM33 gene may result in alterations in airway remodeling and repair processes. However, no SNP of ADAM33 gene showed significant associations with asthma across all ethnic groups; the causative polymorphism, if any, still has to be identified.

Assessment for the Role of Serotonin Receptor Subtype 3 for the Analgesic Action of Morphine at the Spinal Level

2005 ◽  
Vol 18 (2) ◽  
pp. 113
Author(s):  
Myung Ha Yoon ◽  
Hong Buem Bae ◽  
Jeong Il Choi ◽  
Seok Jae Kim ◽  
Chang Mo Kim ◽  
...  
Keyword(s):  
Serotonin Receptor ◽  
Receptor Subtype ◽  
Analgesic Action ◽  
Spinal Level ◽  
Subtype 3

The role of exon II HTR2A transcript isoforms in the development of mental pathologies and antipsychotic therapy prognosis

2020 ◽  
pp. 24-26
Author(s):  
М.Н. Грунина ◽  
А.М. Заботина ◽  
А.С. Журавлев ◽  
Р.Ф. Насырова ◽  
А.Е. Тараскина
Keyword(s):  
Genetic Variant ◽  
Therapy Outcome ◽  
Gene Transcript ◽  
Antipsychotic Therapy ◽  
Transcript Isoforms ◽  
Alternative Isoforms ◽  
Htr2a Gene

Психические расстройства ассоциированы с нарушением паттерна изоформ транскриптов экзона II гена HTR2A за счет преобладания альтернативной изоформы Е2-. При этом высокий уровень экспрессии изоформы Е2- ассоциирован с благоприятным прогнозом антипсихотической терапии. The aim of the study was to analyze the role of exon II HTR2A gene transcript isoforms and rs6311 genetic variant in the development of mental pathologies and antipsychotic therapy prognosis. Alternative isoforms of exon II HTR2A are associated with the development of mental pathologies and is applicable to predict antipsychotic therapy outcome.

Association of genetic polymorphism of cytokines and antioxidant enzymes with the development of asbestosis

2020 ◽  
Vol 60 (12) ◽  
pp. 898-903
Author(s):  
Lyudmila P. Kuzmina ◽  
Anastasiya G. Khotuleva ◽  
Evgeniy V. Kovalevsky ◽  
Nikolay N. Anokhin ◽  
Iraklij M. Tskhomariya
Keyword(s):  
Antioxidant Enzymes ◽  
Genetic Polymorphism ◽  
Genetic Predisposition ◽  
Risk Groups ◽  
Dust Exposure ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gstp1 Gene ◽  
Polymorphic Variants

Introduction. Various industries widely use chrysotile asbestos, which determines the relevance of research aimed at the prevention of asbestos-related diseases. It is promising to assess the role of specific genes, which products are potentially involved in the development and regulation of certain links in the pathogenesis of asbestosis, forming a genetic predisposition to the disease. The study aims to analyze the presence of associations of genetic polymorphism of cytokines and antioxidant enzymes with asbestosis development. Materials and methods. Groups were formed for examination among employees of OJSC "Uralasbest" with an established diagnosis of asbestosis and without lung diseases. For each person included in the study, dust exposure doses were calculated considering the percentage of time spent at the workplace during the shift for the entire work time. Genotyping of single nucleotide polymorphisms of cytokines IL1b (rs16944), IL4 (rs2243250), IL6 (rs1800795), TNFα (rs1800629) and antioxidant enzymes SOD2 (rs4880), GSTP1 (rs1610011), CAT (rs1001179) was carried out. Results. The authors revealed the associations of polymorphic variants A511G IL1b gene (OR=2.457, 95% CI=1.232-4.899) and C47T SOD2 gene (OR=1.705, 95% CI=1.055-2.756) with the development of asbestosis. There was an increase in the T allele IL4 gene (C589T) frequency in persons with asbestosis at lower values of dust exposure doses (OR=2.185, 95% CI=1.057-4.514). The study showed the associations of polymorphism C589T IL4 gene and C174G IL6 gene with more severe asbestosis, polymorphism A313G GSTP1 gene with pleural lesions in asbestosis. Conclusion. Polymorphic variants of the genes of cytokines and antioxidant enzymes, the protein products directly involved in the pathogenetic mechanisms of the formation of asbestosis, contribute to forming a genetic predisposition to the development and severe course of asbestosis. Using the identified genetic markers to identify risk groups for the development and intense period of asbestos-related pathology will optimize treatment and preventive measures, considering the organism's characteristics.

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