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 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 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.

An Analysis of the Association between Epilepsy-Related Genes and Vertigo in the Polish Population

2018 ◽  
Vol 23 (3) ◽  
pp. 135-144
Author(s):  
Katarzyna Pawlak-Osińska ◽  
Katarzyna Linkowska ◽  
Karolina Hołub ◽  
Katarzyna Winiarska ◽  
Bartosz Stankiewicz ◽  
...  
Keyword(s):  
Gene Regulation ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Background ◽  
Potential Role ◽  
Control Group ◽  
Polish Population ◽  
Nucleotide Polymorphisms ◽  
Chromosome 11 ◽  
Single Nucleotide

Considering the possibility of a common genetic background of vertigo and epilepsy, we genotyped an affected group of individuals with vertigo and an unaffected group, by studying 26 single-nucleotide polymorphisms (SNPs) in 14 genes which were previously reported to be of particular importance for epilepsy. Significant differences were found between the patients and the control group (χ2 = 38.3, df = 3, p = 1.6 × 10–7) for the frequencies of haplotypes consist ing of 2 SNPs located in chromosome 11 (rs1939012 and rs1783901 within genes MMP8 and SCN3B, respectively). The haplotype rs1939012:C-rs1783901:A, consisting of the minor-frequency alleles was found to be associated with a higher risk of vertigo (OR = 5.0143, 95% CI = 1.6991–14.7980, p = 0.0035). In contrast, the haplotype rs1939012:T-rs1783901:A showed a significant association with a decreased risk of the disease (OR = 0.0597, 95% CI = 0.0136–0.2620, p = 0.0002). Our results suggest that the SNPs rs1939012 and rs1783901 may play a potential role of gene regulation and/or epistasis in a complex etiology of vertigo.

Polymorphism of the ADRB2 gene as a predictor of preterm birth

2021 ◽  
Vol 20 (2) ◽  
pp. 5-12
Author(s):  
G.F. Proklova ◽  
◽  
E.A. Sokova ◽  
R.E. Kazakov ◽  
R.A. Chilova ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Gene Polymorphism ◽  
Pregnant Women ◽  
Control Group ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Adrb2 Gene

Tocolytic therapy with the use of β2-agonist hexoprenaline is used to prolong pregnancy. Polymorphisms of the ADRB2 gene can affect the efficacy and safety of this drug, including missense mutations associated with the Gly16Arg and Gln27Glu substitutions. Objective. To study the role of the ADRB2 gene polymorphism in preterm birth, as well as the efficiency and safety of tocolytic therapy with hexoprenaline. Patients and methods. 120 pregnant women were examined. The main group included 60 pregnant women who were at risk of preterm birth and to whom intravenous tocolytic therapy with hexoprenaline was performed. In the control group (n = 60), there was a woman whose pregnancy was not accompanied by the threat of preterm birth, and delivery itself was emergency and spontaneous. The identification of the Gly16Arg and Gln27Glu polymorphisms of the ADRB2 gene was carried out by the PCR-RFLP method. Results. In pregnant women with the threat of premature labor, the 16Arg allele (p = 0.028) was less common, and the 16Gly/Gly genotype (p = 0.027) of the ADRB2 gene was reliably more common. Adverse reactions to hexoprenaline occured in 53% of pregnant women: in 47%, it was tachycardia, in 6% – headache. Their incidence was not associated with the ADRB2 gene polymorphism. Conclusion. The effectiveness of hexoprenaline is lower in the carriers of genotypes indicating high or low expression of β2-adrenoreceptors. Key words: hexoprenaline, genotyping, single-nucleotide polymorphisms, preterm birth, tocolytic therapy, ADRB2

scholarly journals Association Between rs12037447, rs146732504, rs151078858, rs55723436, and rs6094136 Polymorphisms and Kawasaki Disease in the Population of Polish Children

2021 ◽  
Vol 9 ◽  
Author(s):  
Piotr Buda ◽  
Maciej Chyb ◽  
Anna Smorczewska-Kiljan ◽  
Anna Wieteska-Klimczak ◽  
Agata Paczesna ◽  
...  
Keyword(s):  
Kawasaki Disease ◽  
Genome Wide Association Study ◽  
Metabolic Diseases ◽  
Developed Countries ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Coronary Artery Involvement ◽  
Genome Wide

Background: Kawasaki disease (KD) is an acute self-limited febrile vasculitis that mainly affects young children. Coronary artery involvement is the most serious complication in children with KD. It is currently the leading cause of acquired cardiac disease in children from developed countries. Literature data indicate a significant role of genetic susceptibility to KD.Objective: The aim of this study was to perform the first Genome-Wide Association Study (GWAS) in a population of Polish children with KD and identify susceptible genes involved in the pathogenesis of KD.Materials and Methods: The blood samples of Kawasaki disease patients (n = 119) were collected between 2016 and 2020, isolated and stored at the Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute in Warsaw. The control group was based on Polish donors (n = 6,071) registered as the POPULOUS collection at the Biobank Lab of The Department of Molecular Biophysics in University of Lodz. DNA samples were genotyped for 558,231 Single Nucleotide Polymorphisms (SNPs) using the 24 × 1 Infinium HTS Human Core Exome microarrays according to the protocol provided by the manufacturer. In order to discover and verify genetic risk-factors for KD, association analysis was carried out using PLINK 1.9.Results: Of all 164,395 variants, 5 were shown to occur statistically (padjusted &lt; 0.05) more frequent in Kawasaki disease patients than in controls. Those are: rs12037447 in non-coding sequence (padjusted = 8.329 × 10−4, OR = 8.697, 95% CI; 3.629–20.84) and rs146732504 in KIF25 (padjusted = 0.007354, OR = 11.42, 95% CI; 3.79–34.43), rs151078858 in PTPRJ (padjusted = 0.04513, OR = 8.116, 95% CI; 3.134–21.01), rs55723436 in SPECC1L (padjusted = 0.04596, OR = 5.596, 95% CI; 2.669–11.74), rs6094136 in RPN2 (padjusted = 0.04755, OR = 10.08, 95% CI; 3.385–30.01) genes.Conclusion: Polymorphisms of genes KIF25, PTRPJ, SPECC1L, RNP2 may be linked with the incidence of Kawasaki disease in Polish children.

scholarly journals Molecular Investigation of Association Among Common IL-6 Polymorphism with Cytomegalovirus(CMV) Infection and Recurrent Miscarriage in Iranian Women

2021 ◽  
Author(s):  
Parisa Pourroostaei Ardakani ◽  
Bahareh Rahimi ◽  
Mohammad Panahi ◽  
Babak Karimian ◽  
Hamzeh Rahimi
Keyword(s):  
Recurrent Miscarriage ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Iranian Women ◽  
Cmv Infection ◽  
Single Nucleotide ◽  
Host Genetic ◽  
Control Study ◽  
Healthy Females

Abstract Background: Recurrent pregnancy loss (RPL) is described as two or more spontaneous abortions. Until now, although various factors such as genetic, endocrinology, anatomy, immunology, and microbiology have been distinguished that affect abortions, the precise basic etiology in up to 50% of RPL cases are not determined. Human cytomegalovirus (CMV) infection and host genetic background, like IL-6 SNP polymorphisms play important roles in RPL etiology. Objective: This study aimed to evaluate relationship among single nucleotide polymorphisms (-634C/G and -174 G/C) in the IL-6 gene with CMV infection and risk of RPL for early detection and treatment of RPL. Materials and methods: This case-control study was carried on 80 Iranian females with RPL and 80 healthy females as control group. The extraction of DNA from samples and detection of CMV and IL6 SNPs were determined by Tetra ARMS-PCR. Finally, the statistical analysis for detection CMV and two polymorphisms roles in RPL were analyzed by Epi Info TM software by X2 test. Results: Our results indicated an increased rate of CMV infection in RPL group (44%) versus the control group (25.45%). Also, the prevalence of IL-6 -634C/G genotype among RPL patients with CMV infection was 80%, while the frequency of this genotype among RPL patients without CMV infection was 50%. Furthermore, no substantial relation was found between IL-6 -174 G/C genotypes and RPL (P ≤0.0001). BesidesConclusion: This study not only indicated a significant role of CMV in RPL, but also showed CMV association with allele G in IL6 -634 among Iranian women. In addition, suggested the use of CMV and IL-6 -634 GG genotypes in RPL as diagnostic and prognostic biomarkers in Iranian population.

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.

Association of the CD14 C159T and the Toll-like receptor 4 Asp299Gly polymorphisms with various phenotypes of asthma in adults from Crimea

2020 ◽  
Vol 41 (2) ◽  
pp. 134-140
Author(s):  
Yuriy Bisyuk ◽  
Andrew Dubovyi ◽  
Ilona DuBuske ◽  
Viktor Litus ◽  
Lawrence M. DuBuske
Keyword(s):  
Late Onset ◽  
Adult Population ◽  
Additive Models ◽  
Atopic Asthma ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Single Nucleotide ◽  
Gender And Age

Background: This study assessed gene polymorphisms of the CD14 receptor (C-159T) and Toll-like receptor 4 (Asp299Gly) in a patient population in Crimea, Ukraine, stratified by clinical (early versus late onset; frequent versus occasional relapses; fixed versus reversible obstruction) and immunologic (atopic versus nonatopic; eosinophilic; neutrophilic or paucigranulocytic inflammation) subtype. Methods: Two polymorphisms, CD14 C-159T and TLR4 Asp299Gly, were assessed in 331 patients with asthma. The control group included 285 volunteers who were nonatopic. The single nucleotide polymorphisms were studied by using polymerase chain reaction with electrophoretic detection. Results: There were increased odds of asthma development in patients with the Asp299Gly TLR4 mutation compared with the general population underdominant odds ratio (OR) 1.52 [95% confidence interval (CI), 1.00‐2.32] and overdominant (OR 1.55 [95% CI, 1.01‐2.38]) models after adjustment for gender and age. In addition, mutations in this gene decreased the odds of nonatopic asthma in underdominant (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.027), overdominant (OR 0.27 [95% CI, 0.07‐0.96]; p = 0.033), and log-additive models (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.026) compared with the atopic subgroup after adjustment for gender, age, number of exacerbations, and type of airway inflammation. Allele frequencies for CD14 and TLR4 polymorphisms did not show statistical differences between the patients with asthma and the control subjects. Conclusion: CD14 C-159T polymorphisms were not associated with asthma in the adult population in Crimea. TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea.

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