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1.
Mol Biol Rep ; 45(4): 633-638, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29623565

RESUMO

Alterations in telomere length (TL) have been associated with several diseases and a method based on qPCR, the Monochrome Multiplex Real-Time Quantitative PCR (MMQPCR) technique, has been used extensively for the analysis of TL. Some previous studies have been found that certain methodological conditions can affect the measurement of TL. The aim of the study was to evaluate the performance of eight different commercially available SYBR Green and High-Resolution Melting (HRM) mixes on the measurement of TL by the MMQPCR method. Four SYBR Green and four HRM mixes were tested and the measurement of TL was expressed by the T/S ratio. It was found that the type of master mix used in MMQPCR influences the measurement of TL, affecting aspects such as the specificity and consistency of the results. Our results are the first description of the effects of different master mixes on TL analysis by MMQPCR and highlight the importance of the future methodological improvement of this broadly used technique.


Assuntos
Reação em Cadeia da Polimerase em Tempo Real/métodos , Telômero/genética , Voluntários Saudáveis , Humanos , Sensibilidade e Especificidade , Telômero/química , Homeostase do Telômero
2.
Am J Med Genet B Neuropsychiatr Genet ; 177(2): 126-142, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-27943569

RESUMO

The Apolipoprotein E (APOE) gene is one of the main candidates in neuropsychiatric genetics, with hundreds of studies carried out in order to explore the possible role of polymorphisms in the APOE gene in a large number of neurological diseases, psychiatric disorders, and related endophenotypes. In the current article, we provide a comprehensive review of the structural and functional aspects of the APOE gene and its relationship with brain disorders. Evidence from genome-wide association studies and meta-analyses shows that the APOE gene has been significantly associated with several neurodegenerative disorders. Cellular and animal models show growing evidence of the key role of APOE in mechanisms of brain plasticity and behavior. Future analyses of the APOE gene might find a possible role in other neurological diseases and psychiatric disorders and related endophenotypes. © 2016 Wiley Periodicals, Inc.


Assuntos
Apolipoproteínas E/genética , Transtornos Mentais/genética , Animais , Apolipoproteínas E/metabolismo , Encéfalo/metabolismo , Encéfalo/patologia , Endofenótipos , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Transtornos Mentais/metabolismo , Transtornos Mentais/patologia , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/metabolismo , Doenças Neurodegenerativas/patologia , Polimorfismo Genético
3.
Braz J Psychiatry ; 41(3): 194-198, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30328966

RESUMO

OBJECTIVE: Childhood trauma and telomere length (TL) are important risk factors for major depressive disorder. We examined whether there was an association between childhood trauma and TL in a sample of Colombians who were assessed for depressive symptoms. METHODS: We applied the Center for Epidemiologic Studies Depression scale, the Patient Health Questionnaire-9, the Hospital Anxiety and Depression scale and the Childhood Trauma Questionnaire to 92 Colombian subjects (mean age = 21). TL was measured with quantitative PCR. Spearman's correlation coefficient (rs) was used to analyze the relationship between childhood trauma scores and TL. RESULTS: We found a significant correlation between TL and sexual abuse scores (rs = 0.428, p = 0.002) in individuals with higher depressive symptom scores. CONCLUSION: This is the first report of a significant association between TL and sexual abuse in a Latin American sample and provides additional evidence about the role of childhood trauma and TL in neuropsychiatric disorders.


Assuntos
Maus-Tratos Infantis/psicologia , Transtorno Depressivo Maior/genética , Encurtamento do Telômero/genética , Telômero , Criança , Maus-Tratos Infantis/classificação , Colômbia , Transtorno Depressivo Maior/sangue , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase , Inquéritos e Questionários , Adulto Jovem
4.
Psychiatry Investig ; 15(4): 402-406, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29614853

RESUMO

OBJECTIVE: The aim of this study was to examine a possible association between depressive symptoms and a functional polymorphism (rs686) that modulates the regulation of DRD1 gene by miR-504. METHODS: A total of 239 young Colombian subjects were evaluated with the Patient Health Questionnaire-9 (PHQ-9) scale and genotyped for the rs686 polymorphism. A linear regression model, corrected by age and gender, was used. RESULTS: A significant association between the rs686 polymorphism and PHQ-9 scores was found, under a dominant genetic model (p=0.0094). CONCLUSION: These results provide novel evidence about the growing role of inherited variants in binding sites for brain-expressed miRNAs on depressive symptomatology.

5.
Psychiatr Genet ; 28(3): 41-46, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29595559

RESUMO

BACKGROUND: Epigenetic factors have been identified in the past years as interesting candidates for psychiatric disorders and related endophenotypes. It has been found that the methylenetetrahydrofolate reductase (MTHFR) gene is associated with major depressive disorder, and the aim of the current study was to examine the possible association between perceived stress and MTHFR methylation, taking into account depressive symptoms as a covariate. PARTICIPANTS AND METHODS: Seventy-eight healthy Colombian participants (mean age=20.9 years; SD=3.0) were evaluated with the Perceived Stress Scale and with the Patient Health Questionnaire-9 for depressive symptomatology. MTHFR methylation levels were measured with a methylation-sensitive high-resolution melting method. A multiple regression analysis (adjusting for age, sex, and depressive symptoms) was carried out to assess the association between MTHFR methylation and perceived stress scores. RESULTS: We found a significant inverse correlation between MTHFR methylation levels and perceived stress scores (r=-0.502; P=5.9×10(-5)), which remained significant after being adjusted for age, sex, and depressive symptomatology. CONCLUSION: To our knowledge, this is the first study that reports an association between perceived stress and MTHFR methylation levels. This report adds evidence to the emerging role of epigenetic changes in endophenotypes related to affective disorders.


Assuntos
Metilação de DNA , Predisposição Genética para Doença , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Adolescente , Adulto , Transtorno Depressivo Maior/genética , Epigênese Genética , Feminino , Voluntários Saudáveis , Humanos , Masculino , Escalas de Graduação Psiquiátrica , Análise de Regressão , Estresse Psicológico , Adulto Jovem
6.
Mol Brain ; 11(1): 53, 2018 09 21.
Artigo em Inglês | MEDLINE | ID: mdl-30241547

RESUMO

Genetic studies of major depressive disorder and its associated endophenotypes are useful for the identification of candidate genes. In recent years, variations in non-coding RNA genes, such as miRNAs, have been explored as novel candidates for psychiatric disorders and related endophenotypes. The aim of the present study was to evaluate the possible association between a functional polymorphism (rs12720208) in the FGF20 gene, which regulates its modulation by miR-433, and depressive symptoms in young adults. A sample of 270 participants from Colombia were evaluated with the Hospital Anxiety and Depression Scale - Depression Subscale (HADS-D) and genotyped for the rs12720208 polymorphism using a TaqMan assay. A lineal regression analysis was used. A statistically significant association of the functional polymorphism in the FGF20 gene (rs12720208) with depressive symptoms was found. It was observed that individuals with the G/A genotype had higher scores for the HADS-D subscale. Our results are the first description in the scientific literature about a significant association between a functional polymorphism in the FGF20 gene, which regulates its modulation by miR-433, and depressive symptoms.


Assuntos
Depressão/genética , Fatores de Crescimento de Fibroblastos/genética , MicroRNAs/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Sítios de Ligação/genética , Feminino , Fatores de Crescimento de Fibroblastos/metabolismo , Humanos , Masculino , MicroRNAs/genética , Adulto Jovem
7.
Chronobiol Int ; 34(2): 280-286, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28055273

RESUMO

A polymorphism in the PER3 (period circadian clock 3) gene has been associated with neuropsychiatric disorders and endophenotypes. We evaluated the possible association of personality domains with the PER3 polymorphism in a sample of healthy subjects: 271 individuals were evaluated with the Big Five Inventory and genotyped for the PER3 Variable Number Tandem Repeat (VNTR) polymorphism. We found a significant association between the PER3 polymorphism and the extraversion personality trait (p = 0.0093). The 5/5 genotype carriers showed higher scores for extraversion. This is the first time that a significant association between the PER3 VNTR polymorphism and extraversion is reported.


Assuntos
Extroversão Psicológica , Proteínas Circadianas Period/genética , Personalidade , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Alelos , Ritmo Circadiano/genética , Colômbia , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Repetições Minissatélites , Fenótipo , Sono/genética , Adulto Jovem
8.
Neurosci Lett ; 644: 43-47, 2017 03 22.
Artigo em Inglês | MEDLINE | ID: mdl-28235603

RESUMO

The identification of genes that are risk factors for major depressive disorder remains a main task for global psychiatric research. The Catechol-O-methyltransferase (COMT) gene has been an important candidate risk factor for several psychiatric disorders. Previous studies have shown that a functional polymorphism (Val158Met) in this gene has an effect on several brain circuits and endophenotypes of psychiatric relevance. The aim of this study was to explore the association of a functional polymorphism in the COMT gene with psychological distress, sleep problems and health-related quality of life. Two hundred seventy young Colombian subjects (mean age: 21.3 years; range: 18-57 years) completed the Patient Health Questionnaire-9, the Perceived Stress Scale, the Oviedo Sleep Questionnaire and the 12-Item Short-Form Health Survey and were genotyped for the Val158Met polymorphism (rs4680) in the COMT gene. A linear regression analysis, adjusting for potential confounding factors, was carried out. Subjects that were Met carriers (Val/Met and Met/Met genotypes) showed higher scores for hypersomnia (p=0.001) and lower scores for mental health-related quality of life (p=0.007), these associations remained significant after correcting for multiple testing. These findings support the hypothesis of a broad effect of the Val158Met polymorphism in the COMT gene on several dimensions of behavior and neuropsychiatric symptoms.


Assuntos
Catecol O-Metiltransferase/genética , Distúrbios do Sono por Sonolência Excessiva/genética , Saúde Mental , Qualidade de Vida , Adolescente , Adulto , Colômbia , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Adulto Jovem
9.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 41(3): 194-198, May-June 2019. tab
Artigo em Inglês | LILACS | ID: biblio-1011493

RESUMO

Objective: Childhood trauma and telomere length (TL) are important risk factors for major depressive disorder. We examined whether there was an association between childhood trauma and TL in a sample of Colombians who were assessed for depressive symptoms. Methods: We applied the Center for Epidemiologic Studies Depression scale, the Patient Health Questionnaire-9, the Hospital Anxiety and Depression scale and the Childhood Trauma Questionnaire to 92 Colombian subjects (mean age = 21). TL was measured with quantitative PCR. Spearman's correlation coefficient (rs) was used to analyze the relationship between childhood trauma scores and TL. Results: We found a significant correlation between TL and sexual abuse scores (rs = 0.428, p = 0.002) in individuals with higher depressive symptom scores. Conclusion: This is the first report of a significant association between TL and sexual abuse in a Latin American sample and provides additional evidence about the role of childhood trauma and TL in neuropsychiatric disorders.


Assuntos
Humanos , Masculino , Feminino , Criança , Adulto Jovem , Maus-Tratos Infantis/psicologia , Telômero , Transtorno Depressivo Maior/genética , Encurtamento do Telômero/genética , Maus-Tratos Infantis/classificação , Reação em Cadeia da Polimerase , Inquéritos e Questionários , Colômbia , Transtorno Depressivo Maior/sangue
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