TPH2 Polymorphisms and alcohol-related suicide

2011 ◽  
Vol 26 (S2) ◽  
pp. 821-821
Author(s):  
A. Videtič Paska ◽  
T. Zupanc ◽  
P. Pregelj ◽  
M. Tomori ◽  
R. Komel
Keyword(s):  
Suicidal Behavior ◽  
Tryptophan Hydroxylase ◽  
Impulsive Behavior ◽  
Nucleotide Polymorphisms ◽  
Adoption Studies ◽  
Single Nucleotide ◽  
Polymerase Chain ◽  
Genetic And Environmental Factors ◽  
Alcoholism Risk

IntroductionSubstantial evidence from family, twin, and adoption studies corroborates implication of genetic and environmental factors, as well as their interactions, on suicidal behavior and alcoholism risk. Serotonergic disfunction seems to be involved in the pathophysiology of substance abuse, and has also an important role in suicidal behavior.ObjectivesRecent studies of the tryptophan hydroxylase 2 (TPH2) showed mild or no association with suicide and alcohol-related suicide.AimsInvestigation of the role of five single nucleotide polymorphisms (SNPs), one functional (p.Arg441His), two in intron 5 (Rs1843809, Rs1386493), and two in the 5’ regulatory promoter region (Rs4131348, Rs11178997) of TPH2, in association with suicide and alcohol-related suicide on a population with one of the highest suicide rates in the world.MethodsWe performed qRT-PCR (Real-Time Polymerase Chain Reaction) genotyping analysis of SNPs and alcohol analysis on 388 suicide victims and 227 controls.ResultsThe results showed association between suicide (P(X2) = 0.043) and alcohol-related suicide (P(X2) = 0.021) for SNP Rs1843809. A tendency for association was determined also for polymorphism Rs1386493 (P(X2) = 0.055) and alcohol-related suicide. Data acquired from psychological autopsies in a subsample of suicide victims (n = 79) determined more impulsive behavior (P(X2) = 0.016) and verbal aggressive behavior (P(X2) = 0.025) in the subgroup with alcohol misuse or dependency.ConclusionsOur results suggest implication of polymorphisms in suicide and alcohol-related suicide, but further studies are needed to clarify the interplay among serotonergic system disfunction, suicide, alcohol dependence, impulsivity and the role of TPH2 enzyme.

Genetic polymorphisms of Cathepsin B are associated with gastric cancer risk and prognosis in a Chinese population

2021 ◽  
pp. 1-10
Author(s):  
Xiang Ma ◽  
Younan Wang ◽  
Hao Fan ◽  
Chuming Zhu ◽  
Wangwang Chen ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Genetic Polymorphisms ◽  
Cathepsin B ◽  
Case Control Study ◽  
Nucleotide Polymorphisms ◽  
Sequencing Technology ◽  
Single Nucleotide ◽  
Polymerase Chain ◽  
Control Study

BACKGROUND: Genetic polymorphisms are believed to represent a key aspect of predisposition to gastric cancer (GC). Therefore, considering the important role of Cathepsin B (CTSB) in promoting cancer onset and development, it could be very worthful to explore the function of CTSB-related genetic polymorphisms in GC. OBJECTIVE: In this study, we investigated the correlation of CTSB-related polymorphisms (rs9009A>T, rs6731T>C, rs1293303G>C, rs1874547C>T, rs3779659C>T, rs17814426C>T and rs148669985C>T) with GC risk and prognosis in a case-control study of 994 cases and 1000 controls. METHODS: All tag single nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction-ligase detection reaction (PCR-LDR) sequencing technology. RESULTS: The results indicated rs9009, rs6731 and rs17814426 correlated with decreased risks of GC (HR = 0.97, p< 0.001; HR = 0.86, P= 0.019; HR = 0.85, P= 0.017; respectively). Stratification analysis further showed rs17814426 variant genotypes correlated with earlier T stage (p= 0.044). In addition, GC patients carrying the C allele of rs6371 had better overall prognosis (HR = 0.62, 95%CI = 0.44–0.88). CONCLUSION: Our results firstly suggested the importance of CTSB-related polymorphisms on GC which could predict GC risk and prognosis.

scholarly journals Role of Kisspeptin Gene Polymorphism in Idiopathic Male Infertility in Iraq

2021 ◽  
pp. 3428-3435
Author(s):  
Firas Kareem Al-Kalabi ◽  
Adnan F Al-Azzawie ◽  
Estabraq AR. Al-Wasiti
Keyword(s):  
Male Infertility ◽  
Semen Quality ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Idiopathic Male Infertility ◽  
Polymerase Chain ◽  
Infertile Group ◽  
Control Study

     This case control study aimed to determine single nucleotide polymorphisms (SNPs) in the Kisspeptin (KISS1) gene in males with idiopathic infertility and their association with sex hormones and semen quality. The study included a total of 60 infertile and 30 healthy fertile males. Our results show that the level of the measured hormones (LH, FSH, Testosterone, Prolactin and Kisspeptin-54) were higher in the control group than in the male infertile group at p<0.05. We used polymerase chain reaction restriction fragment length polymorphism (PCR-RELP) for the genotyping of KISS1 position rs35431622 (Q36R) KISS1, which showed three different genotypes of different sizes; a wild-type homozygous AA of 233 bp and a heterozygous AG that has digestion products of 233, 161, and 72 bp. The AG was more frequent in the patients group which also had high OR value of G allele (3.105). While for the rs4889 (C/G(, there was a correlation between the CC genotype and the patients group, but it was non-significant. Patients had an OR value of 2.5 for the CC genotype with 95% CI: 0.21 – 29.26, whereas the OR value for the C allele was 1.14 with 95% CI: 0.613 – 2.135. In conclusion, variations in SNPs of the KISS1 gene may be considered as a risk factor for idiopathic male infertility in Iraqi population.

scholarly journals TPH1 gene polymorphism rs211105 influences serotonin and tryptophan hydroxylase 1 concentrations in acute pancreatitis patients

2021 ◽  
Author(s):  
Jadwiga Snarska ◽  
Ewa Fiedorowicz ◽  
Dominika Rozmus ◽  
Konrad Wroński ◽  
Maria Latacz ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Metabolic Pathway ◽  
Tryptophan Hydroxylase ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Serotonin Synthesis ◽  
Single Nucleotide ◽  
Factors Affecting ◽  
Rate Limiting

Abstract Background The role of serotonin and its metabolic pathway in proper functioning of the pancreas has not been thoroughly investigated yet in acute pancreatitis (AP) patients. Tryptophan hydroxylase (TPH) as the rate-limiting enzyme of serotonin synthesis has been considered for possible associations in various diseases. Single-nucleotide polymorphisms (SNPs) in TPH genes have been already described in associations with psychiatric and digestive system disorders. This study aimed to explore the association of a rs211105 (T/G) polymorphism in TPH1 gene with tryptophan hydroxylase 1 concentrations in blood serum in a population of acute pancreatitis patients, and to investigate this association with acute pancreatitis susceptibility. Results Our data showed an association between the presence of the T allele at the position rs211105 (OR = 2.47, 95% CI: 0.94-6.50, p = 0.06) under conditions of a decreased AP incidence. For TT and GT genotypes in the control group, the lowest concentration of TPH was associated with higher serotonin levels (TT: Rs=-0.415, p=0.0018; GT: Rs=-0,457, p=0.0066), while for the AP group the highest levels of TPH among the TT genotype were associated with lower levels of serotonin (TT: Rs=-0.749, p<0.0001, and in the GG genotype higher levels of TPH were associated with higher levels of serotonin (GG: Rs=-0.738, p=0.037). Conclusions Here, a new insight in the potential role of a selected genetic factor in pancreatitis development was shown. Not only the metabolic pathway of serotonin, but also factors affecting serotonin synthesis may be interesting and important points in acute pancreatitis.

scholarly journals TPH1 Gene Polymorphism (rs211105) Influences Serotonin and Tryptophan Hydroxylase 1 Concentrations in Acute Pancreatitis Patients

2021 ◽  
Author(s):  
Jadwiga Snarska ◽  
Ewa Fiedorowicz ◽  
Dominika Rozmus ◽  
Konrad Wroński ◽  
Maria Latacz ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Metabolic Pathway ◽  
Tryptophan Hydroxylase ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Serotonin Synthesis ◽  
Single Nucleotide ◽  
Factors Affecting ◽  
Rate Limiting

Abstract Background: The role of serotonin and its metabolic pathway in the proper functioning of the pancreas has not been thoroughly investigated yet in the aspect of AP (acute pancreatitis). Tryptophan hydroxylase (TPH) as the rate-limiting enzyme of serotonin synthesis has been considered for possible associations in various diseases. Single-nucleotide polymorphisms (SNPs) in TPH genes have been already described in associations with psychiatric and digestive system disorders. Aim of this study was to explore association of rs211105 (T/G) polymorphism in TPH1 gene with tryptophan hydroxylase 1 concentrations in blood serum in population of acute pancreatitis patients, and to investigate this association with acute pancreatitis susceptibility. Results: To date, we have found an association between the presence of the T allele at the position rs211105 (OR = 2.47, 95% CI: 0.94-6.50, p = 0.06) under conditions of a decreased AP incidence. For TT and GT genotype in control group, the lowest concentration of TPH was associated with higher serotonin levels (TT: Rs=-0.415, p=0.0018; GT: Rs=-0,457, p=0.0066), while for AP group: the highest levels of TPH among TT genotype were associated with lower levels of serotonin (TT: Rs=-0.749, p=0.0000), and in GG genotype higher levels of TPH were associated with higher levels of serotonin (GG: Rs=-0.738, p=0.037).Conclusions: Here, the new insight of the potential role of selected genetic factor in pancreatitis development was brought. Not only the metabolic pathway of serotonin, but also factors affecting serotonin synthesis may be interesting and important point in acute pancreatitis.

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.

scholarly journals Role of polymorphisms of MSX1 and PAX9 genes in palatal impaction of maxillary canines

2019 ◽  
Vol 46 (1) ◽  
pp. 14-19 ◽  
Author(s):  
M S Anjana Devi ◽  
Sridevi Padmanabhan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Population Sample ◽  
Nucleotide Polymorphisms ◽  
Third Molars ◽  
Single Nucleotide ◽  
Gender And Age ◽  
Chi Squared ◽  
Different Populations ◽  
Polymerase Chain

Objective: Maxillary canines are the second-most commonly impacted teeth. About two-thirds of the impacted maxillary canines are palatally impacted. Studies in the past have shown that 40% of cases with palatal impaction of maxillary canines presented with agenesis of third molars. Sporadic agenesis of third molars have been associated with polymorphisms in the MSX1 and PAX9 genes. The present study aims at evaluating the association between polymorphisms of PAX9, MSX1 and palatally impacted canines in a random population sample. Design and setting: Fifty individuals with palatally impacted maxillary canines and 50 gender and age-matched controls were included in this study. Methods: Single nucleotide polymorphisms (SNPs), rs12532 of MSX1 and rs2073247 of PAX9, were genotyped using polymerase chain reaction and restriction fragment length polymorphism. The significance of the differences among the groups was assessed by odds ratio and Chi-squared test with a 95% confidence interval Results: Single nucleotide polymorphisms rs12532 [MSX1] and rs 2073247 [PAX9] showed a statistically significant association with palatal impaction of maxillary canines. In addition, the combined presence of the AG/CT genotypes of these genes in an individual caused a significant increase in the risk for palatal impaction. Conclusion: These results suggest that the rs12532 and rs2073247 polymorphisms of genes MSX1 and PAX9 are positively associated with palatal impaction of maxillary canines. Future studies investigating various other SNPs of these genes in a larger sample of different populations could provide clinching details.

scholarly journals TPH1 gene polymorphism rs211105 is associated with serotonin and tryptophan hydroxylase 1 concentrations in acute pancreatitis patients

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jadwiga Snarska ◽  
Ewa Fiedorowicz ◽  
Dominika Rozmus ◽  
Konrad Wroński ◽  
Maria Latacz ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Metabolic Pathway ◽  
Tryptophan Hydroxylase ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Serotonin Synthesis ◽  
Single Nucleotide ◽  
Factors Affecting ◽  
Rate Limiting

Abstract Background The role of serotonin and its metabolic pathway in proper functioning of the pancreas has not been thoroughly investigated yet in acute pancreatitis (AP) patients. Tryptophan hydroxylase (TPH) as the rate-limiting enzyme of serotonin synthesis has been considered for possible associations in various diseases. Single-nucleotide polymorphisms (SNPs) in TPH genes have been already described in associations with psychiatric and digestive system disorders. This study aimed to explore the association of a rs211105 (T/G) polymorphism in TPH1 gene with tryptophan hydroxylase 1 concentrations in blood serum in a population of acute pancreatitis patients, and to investigate this association with acute pancreatitis susceptibility. Results Our data showed an association between the presence of the T allele at the position rs211105 (OR = 2.47, 95 % CI 0.94–6.50, p = 0.06) under conditions of a decreased AP incidence. For TT and GT genotypes in the control group, the lowest concentration of TPH was associated with higher serotonin levels (TT: Rs = − 0.415, p = 0.0018; GT: Rs = − 0.457, p = 0.0066), while for the AP group the highest levels of TPH among the TT genotype were associated with lower levels of serotonin (TT: Rs = − 0.749, p < 0.0001, and in the GG genotype higher levels of TPH were associated with higher levels of serotonin (GG: Rs = − 0.738, p = 0.037). Conclusions Here, a new insight in the potential role of a selected genetic factor in pancreatitis development was shown. Not only the metabolic pathway of serotonin, but also factors affecting serotonin synthesis may be interesting and important points in acute pancreatitis.

scholarly journals Cytokines and Their Genetic Polymorphisms Related to Periodontal Disease

2020 ◽  
Vol 9 (12) ◽  
pp. 4045
Author(s):  
Małgorzata Kozak ◽  
Ewa Dabrowska-Zamojcin ◽  
Małgorzata Mazurek-Mochol ◽  
Andrzej Pawlik
Keyword(s):  
Periodontal Disease ◽  
Disease Process ◽  
Chronic Inflammatory Disease ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Host Immune Responses ◽  
Genetic And Environmental Factors ◽  
Bacterial Plaque ◽  
Plaque Biofilm

Periodontal disease (PD) is a chronic inflammatory disease caused by the accumulation of bacterial plaque biofilm on the teeth and the host immune responses. PD pathogenesis is complex and includes genetic, environmental, and autoimmune factors. Numerous studies have suggested that the connection of genetic and environmental factors induces the disease process leading to a response by both T cells and B cells and the increased synthesis of pro-inflammatory mediators such as cytokines. Many studies have shown that pro-inflammatory cytokines play a significant role in the pathogenesis of PD. The studies have also indicated that single nucleotide polymorphisms (SNPs) in cytokine genes may be associated with risk and severity of PD. In this narrative review, we discuss the role of selected cytokines and their gene polymorphisms in the pathogenesis of periodontal disease.

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.

scholarly journals The role of 25-hydroxyvitamin-D3 and vitamin D receptor gene in human periodontal ligament fibroblasts as response to orthodontic compressive strain: an in vitro study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Erika Calvano Küchler ◽  
Agnes Schröder ◽  
Vinicius Broska Teodoro ◽  
Ute Nazet ◽  
Rafaela Scariot ◽  
...  
Keyword(s):  
Gene Expression ◽  
Vitamin D ◽  
Single Nucleotide Polymorphisms ◽  
Periodontal Ligament ◽  
Compressive Strain ◽  
Nucleotide Polymorphisms ◽  
Periodontal Ligament Fibroblasts ◽  
Single Nucleotide ◽  
Cox 2

Abstract Background This study aimed to investigate, if different physiological concentrations of vitamin D (25(OH)D3) and single nucleotide polymorphisms in vitamin D receptor (VDR) gene have an impact on gene expression in human periodontal ligament (hPDL) fibroblasts induced by simulated orthodontic compressive strain. Methods A pool of hPDL fibroblasts was treated in absence or presence of 25(OH)D3 in 3 different concentrations (10, 40 and 60 ng/ml). In order to evaluate the role of single nucleotide polymorphisms in the VDR gene, hPDL fibroblasts from 9 patients were used and treated in absence or presence of 40 ng/ml 25(OH)D3. Each experiment was performed with and without simulated orthodontic compressive strain. Real-time PCR was used for gene expression and allelic discrimination analysis. Relative expression of dehydrocholesterol reductase (DHCR7), Sec23 homolog A, amidohydrolase domain containing 1 (AMDHD1), vitamin D 25-hydroxylase (CYP2R1), Hydroxyvitamin D-1-α hydroxylase, receptor activator of nuclear factor-κB ligand (RANKL), osteoprotegerin (OPG), cyclooxygenase-2 (COX-2) and interleukin-6 (IL6) was assessed. Three single nucleotide polymorphisms in VDR were genotyped. Parametric or non-parametric tests were used with an alpha of 5%. Results RANKL, RANKL:OPG ratio, COX-2, IL-6, DHCR7, CYP2R1 and AMDHD1 were differentially expressed during simulated orthodontic compressive strain (p < 0.05). The RANKL:OPG ratio was downregulated by all concentrations (10 ng/ml, 40 ng/ml and 60 ng/ml) of 25(OH)D3 (mean = 0.96 ± 0.68, mean = 1.61 ± 0.66 and mean = 1.86 ± 0.78, respectively) in comparison to the control (mean 2.58 ± 1.16) (p < 0.05). CYP2R1 gene expression was statistically modulated by the different 25(OH)D3 concentrations applied (p = 0.008). Samples from individuals carrying the GG genotype in rs739837 presented lower VDR mRNA expression and samples from individuals carrying the CC genotype in rs7975232 presented higher VDR mRNA expression (p < 0.05). Conclusions Simulated orthodontic compressive strain and physiological concentrations of 25(OH)D3 seem to regulate the expression of orthodontic tooth movement and vitamin-D-related genes in periodontal ligament fibroblasts in the context of orthodontic compressive strain. Our study also suggests that single nucleotide polymorphisms in the VDR gene regulate VDR expression in periodontal ligament fibroblasts in the context of orthodontic compressive strain.

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