scholarly journals Genetic Polymorphisms of 5-HT Receptors and Antipsychotic-Induced Metabolic Dysfunction in Patients with Schizophrenia

2021 ◽  
Vol 11 (3) ◽  
pp. 181
Author(s):  
Diana Z. Paderina ◽  
Anastasiia S. Boiko ◽  
Ivan V. Pozhidaev ◽  
Anna V. Bocharova ◽  
Irina A. Mednova ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Metabolic Dysfunction ◽  
Nucleotide Polymorphisms ◽  
Antipsychotic Therapy ◽  
Drug Induced ◽  
Gene Encoding ◽  
Chi Square ◽  
Single Nucleotide ◽  
Hardy Weinberg Equilibrium

Background: Antipsychotic-induced metabolic syndrome (MetS) is a multifactorial disease with a genetic predisposition. Serotonin and its receptors are involved in antipsychotic-drug-induced metabolic disorders. The present study investigated the association of nine polymorphisms in the four 5-hydroxytryptamine receptor (HTR) genes HTR1A, HTR2A, HTR3A, and HTR2C and the gene encoding for the serotonin transporter SLC6A4 with MetS in patients with schizophrenia. Methods: A set of nine single-nucleotide polymorphisms of genes of the serotonergic system was investigated in a population of 475 patients from several Siberian regions (Russia) with a clinical diagnosis of schizophrenia. Genotyping was performed and the results were analyzed using chi-square tests. Results: Polymorphic variant rs521018 (HTR2C) was associated with higher body mass index in patients receiving long-term antipsychotic therapy, but not with drug-induced metabolic syndrome. Rs1150226 (HTR3A) was also associated but did not meet Hardy–Weinberg equilibrium. Conclusions: Our results indicate that allelic variants of HTR2C genes may have consequences on metabolic parameters. MetS may have too complex a mechanistic background to be studied without dissecting the syndrome into its individual (causal) components.

scholarly journals Study of Dental Caries and PTH Gene

2021 ◽  
Vol 2 ◽  
Author(s):  
Caio Luiz Bitencourt Reis ◽  
Mariane Carolina Faria Barbosa ◽  
Daniela Coelho de Lima ◽  
Isabela Ribeiro Madalena ◽  
Flares Baratto-Filho ◽  
...  
Keyword(s):  
Dental Caries ◽  
Single Nucleotide Polymorphisms ◽  
International System ◽  
Binary Logistic Regression ◽  
Nucleotide Polymorphisms ◽  
Gene Encoding ◽  
Chi Square ◽  
Single Nucleotide ◽  
Chi Square Test ◽  
Brazilian Children

Parathyroid hormone (PTH) is essential for calcium and phosphate homeostasis in odontogenesis-related cells. Therefore, the present study aimed to investigate the association between single nucleotide polymorphisms in the gene encoding PTH, and dental caries in Brazilian children. Three hundred and fifty-three children (170 boys and 183 girls, age ranging from 8 to 11 years old) were included in this study. The International System for Detection and Assessment of Carious Lesions (ICDAS) was used for diagnosis of dental caries. Visible biofilm was also evaluated during the clinical examination. Genomic DNA was extracted from saliva for real-time PCR to evaluate the single nucleotide polymorphisms rs6256, rs307247 and rs694 in PTH gene. Dental caries was classified in ICDAS0 vs. ICDAS1−6 or ICDAS1−2 vs. ICDAS3−6. Chi-square test, binary logistic regression adjusted by biofilm and haplotype analyses were performed (p < 0.05). Biofilm was associated with dental caries (p < 0.05). There were no associations between dental caries and rs6256, rs307247, rs694 in none of the analyses performed (p > 0.05). In conclusion, the present study supports that the single nucleotide polymorphisms rs6256, rs307247, and rs694 in the PTH-encoding gene are not associated with dental caries in Brazilian children.

Antipsychotic-induced tardive dyskinesia: The role of glutamatergic system

2016 ◽  
Vol 33 (S1) ◽  
pp. S97-S97
Author(s):  
A. Boiko ◽  
S. Ivanova ◽  
A. Semke
Keyword(s):  
Tardive Dyskinesia ◽  
Glutamate Transporter ◽  
Antipsychotic Treatment ◽  
Nucleotide Polymorphisms ◽  
Antipsychotic Therapy ◽  
Drug Induced ◽  
Schizophrenic Patients ◽  
Competing Interest

Tardive dyskinesia (TD) occurs in 20–25% of patients with long-term antipsychotic therapy. Abnormalities in glutamatergic transmission are considered one of the key components of the pathogenesis of drug-induced side effects. Glutamate acts as excitotoxin under certain conditions and in excessive concentrations.Aim is to study the concentration of glutamate and analysis of single nucleotide polymorphisms (SNP) in genes coding the glutamate transporter and NMDA-receptors in schizophrenic patients with TD and without it.The study group included 156 patients with schizophrenia receiving long-term antipsychotic treatment. Patients were divided into two groups: 63 patients with TD and 93 patients without it. Glutamate was determined in serum by spectrophotometric method. Determination of allelic variants of gene SLC1A2 (rs4354668) and GRIN2A (rs2650427, rs1969060) was performed by polymerase chain reaction in real-time.We found a significant (P < 0.05) increase of the concentration of glutamate in patients with TD. Significant (P < 0.05) reduction in frequency of genotype GG of GRIN2A (rs1969060) and TT of SLC1A2 (rs4354668) were found in patients with TD in comparison to group without TD. In the study of glutamate concentration depending on the genotype GRIN2A (rs1969060) and genotype SLC1A2 (rs4354668) we observed a statistically significant change: elevated levels of glutamic acid identified with the heterozygous genotype in patients.It is possible to suggest that reduction in frequency of these genotypes increases the risk of movement disorders due to the protective effect of these genotypes.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Avaliação das Variantes Genéticas dos Genes AMELX e ENAM na Cárie Dentária em Adolescentes

2021 ◽  
Vol 24 (5-esp.) ◽  
pp. 650-654
Author(s):  
Gabriela Paschoalini Romagni ◽  
Paula Marino Costa ◽  
Sandra Mara Maciel ◽  
Maria Paula Jacobucci ◽  
Regina Célia Poli-Frederico
Keyword(s):  
Genetic Component ◽  
World Health ◽  
Caries Experience ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Significance Level ◽  
Exact Test ◽  
Polymerase Chain ◽  
Health Organization

A doença cárie é considerada, atualmente, como biofilme sacarose dependente, entretanto, estudos recentes apontam que fatores genéticos também podem influenciar seu desenvolvimento. Variantes nos gene amelogenina (AMELX) e enamelina (ENAM), responsáveis pela formação do esmalte, têm sido propostas como potencialmente envolvidos na doença. O objetivo deste estudo foi avaliar se a ocorrência de cárie dentária em adolescentes está relacionado às variantes nos genes AMELX e ENAM. Para a avaliação da prevalência de cárie foi utilizado o índice de dentes cariados, perdidos e obturados (CPO-D), segundo critérios da Organização Mundial de Saúde. As amostras de DNA foram extraídas das células da mucosa oral. Para a análise dos polimorfismos de nucleotídeo único (SNPs) dos genes AMELX (rs17878486) e ENAM (rs7671281) foi utilizada  a técnica de amplificação de fragmentos de DNA pela reação em cadeia da polimerase foi realizada (PCR) em tempo real pelo sistema TaqMan (Applied Biosystems, Foster City, EUA). Para a análise estatística, foi utilizado o teste exato de Fisher e qui-quadrado com nível de significância de 5%. Apenas os fatores socioeconômicos influenciaram a experiência de cárie. Concluiu-se que o componente genético, na população deste estudo, não influenciou o desenvolvimento da cárie.   Palavras-chave: Polimorfismo genético. Adolescentes. Esmalte.   Abstract Caries disease is currently considered a sucrose-dependent biofilm, however recent studies indicate that a genetic component can also influence its development. Variants in the amelogenin (AMELX) and enamelin (ENAM) genes, responsible for the enamel formation, have been proposed as potentially involved in the disease. The purpose of this study was to evaluate whether the occurrence of dental caries in adolescents is related to variants in the AMELX and ENAM genes. To assess the caries prevalence, the index of decayed, missing and filled teeth (DMFT) were used, according to World Health Organization criteria. DNA samples were extracted from oral mucosa cells. For the analysis of single nucleotide polymorphisms (SNPs) of the AMELX (rs17878486) and ENAM (rs7671281) genes, the amplifying DNA fragments technique  by the polymerase chain reaction was performed (PCR) in real time by the TaqMan system (Applied Biosystems, Foster City, USA). For the statistical analysis, Fisher's exact test and chi-square were used with a 5% significance level. Only socioeconomic factors influenced the caries experience. It was concluded that the genetic component in the population of this study, did not influence the development of caries.   Keywords: Genetic polymorphism. Adolescents. Enamel.

scholarly journals Functional Inflammatory Genotypes in Ischemic Stroke: Could We Use Them to Predict Age of Onset and Long-Term Outcome?

2011 ◽  
Vol 2011 ◽  
pp. 1-7 ◽  
Author(s):  
Stella Marousi ◽  
Anna Antonacopoulou ◽  
Haralambos Kalofonos ◽  
Panagiotis Papathanasopoulos ◽  
Marina Karakantza ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Cox Regression ◽  
Age Of Onset ◽  
Adverse Outcome ◽  
Nucleotide Polymorphisms ◽  
Term Outcome ◽  
Single Nucleotide ◽  
Long Term Outcome ◽  
Tnf Α

Functional single-nucleotide polymorphisms (SNPs) of inflammatory cytokines have been previously related to the occurrence of an ischemic stroke (IS). We investigated whether five functional SNPs (i.e., TNF-α-308G>A, IL6-174G>C, IL12B 1188A>C, IL4-589C>T, and IL10-1082G>A) might be associated with the age of onset and 6-month outcome of an acute IS. A probe-free real-time PCR methodology was used to genotype 145 consecutively admitted cases with a first-ever IS. Simple Kaplan-Mayer and adjusted Cox regression analyses showed no association between inflammatory genotypes and the age of IS onset. IL6-174G>C, IL12B 1188A>C, IL4-589C>T, and IL10-1082G>A were not found to significantly contribute to the long-term outcome of the disease. However, carriage of the TNF-α-308 GG genotype was significantly associated with reduced odds for an adverse outcome. Larger studies are needed to confirm our results.

scholarly journals Variation of genes encoding KAT1, AADAT and IDO1 as a potential risk of depression development

2018 ◽  
Vol 52 ◽  
pp. 95-103 ◽  
Author(s):  
Paulina Wigner ◽  
Piotr Czarny ◽  
Ewelina Synowiec ◽  
Michał Bijak ◽  
Monika Talarowska ◽  
...  
Keyword(s):  
Selective Serotonin Reuptake Inhibitors ◽  
Nucleotide Polymorphisms ◽  
Male Population ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Genes Encoding ◽  
Numerous Data ◽  
Tryptophan Catabolites ◽  
Hydroxyanthranilic Acid ◽  
The Relationship

AbstractBackground:Numerous data suggests that the disorders of tryptophan catabolites (TRYCATs) pathway, including a decreased level of tryptophan or evaluated concentration of harmful TRYCATs −kynurenine, quinolinic acid, 3-hydroxyanthranilic acid, 3-hydroxytryptophan − may cause the occurrence of DD symptoms. In this work, we assessed the relationship between single-nucleotide polymorphisms (SNPs) of KAT1, KAT2 and IDO1 gene encoding, and the risk of depression development. Our study was performed on the DNA isolated from peripheral blood of 281 depressed patients and 236 controls. We genotyped, by using TaqMan probes, four polymorphisms: c.*456G > A of KAT1 (rs10988134), c.975-7T > C of AADAT (rs1480544), c.-1849C > A (rs3824259) and c.-1493G > C(rs10089084)of IDO1. We found that only the A/A genotype of c.*456G > A − KAT1 (rs10988134) increased the risk of depression occurrence. Interestingly, when we stratified the study group according to gender, this relationship was present only in male population. However, a gene–gene analysis revealed a link between the T/T-C/C genotype of c.975-7T > C − AADAT (rs1480544)or c.-1493G > C − IDO1 (rs10089084) and C/C-C/A genotype of c.975-7T > C − AADAT (rs1480544)and c. −1849C > A − IDO1 (rs3824259) and the disease. Moreover, we found, that the c.975-7T > C − AADAT and c. *456G > A KAT1 (rs10988134) polymorphisms may modulate the effectiveness of selective serotonin reuptake inhibitors therapy. Concluding, our results confirm the hypothesis formulated in our recently published article that the SNPs of genes involved in TRYCATs pathway may modulate the risk of depression. This provides some further evidence that the pathway plays the crucial role in development of the disease.

Genetic association study of SOX2 gene polymorphisms with high myopia in a Chinese population

2020 ◽  
pp. 112067212090466
Author(s):  
Lan Li ◽  
Ying Juan Cui ◽  
Yunchun Zou ◽  
Liyuan Yang ◽  
Ximin Yin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Chinese Population ◽  
High Myopia ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Spherical Equivalent ◽  
Chi Square ◽  
Single Nucleotide ◽  
Sox2 Gene ◽  
Chi Square Test

Purpose: The aim of this study is to investigate whether SOX2 gene variants were associated with high myopia in a Chinese population. Methods: This study is conducted using case-control association analysis. This study recruited 83 healthy controls (with binocular spherical equivalent between –0.50 and +0.50 D) and 117 high myopia cases (spherical equivalent > –6.00 D in both eyes). Three single-nucleotide polymorphisms were selected from HapMap database for genotyping by direct sequencing. Statistical software (SPSS 22.0) was used for statistical analysis. The chi-square test was used to examine the difference in the frequency between cases and controls. Results: Genotype distributions in the three single-nucleotide polymorphisms were all in accordance with the Hardy–Weinberg equilibrium. The differences of rs4575941 locus genotype frequency and allele frequency between the case group and the control group were statistically significant (p = .043 and p = .029, respectively). The rs4575941 allele G frequency in the high myopia group was significantly higher than that in the control group with an odds ratio value of 1.579. However, the value of a chi-square test for the trend was 0.029, and after Bonferroni test, the p value was .087. Conclusion: In Chinese population, rs4575941 in SOX2 gene was likely to play some roles in the genetic susceptibility to high myopia; the rs4575941 allele G might be a risk gene for high myopia.

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