We investigated the influence of apolipoprotein B gene (APOB) variants on the risk of hyperlipidemia (HL) in 631 middle-aged and elderly members of the Chinese Yugur population (HL, n=336; normolipidemia, n=295). APOB polymorphisms were identified using mass spectrometry, and five single nucleotide polym...
Apolipoproteínas B/genética,
Pueblo Asiatico/genética,
Estudios de Casos y Controles,
China/etnología,
Frecuencia de los Genes,
Estudios de Asociación Genética,
Haplotipos,
Hiperlipidemias/etnología,
Hiperlipidemias/genética,
Modelos Lineales,
Lípidos/sangre,
Polimorfismo de Nucleótido Simple,
Medición de Riesgo,
Factores de Riesgo
Canto, Luisa Matos do;
Farias, Ticiana Della Justina;
Medeiros, Mayara Delagnelo;
Coêlho, Cíntia Callegari;
Sereia, Aline Fernanda Rodrigues;
Back, Lia Kubelka Fernandes de Carlos;
Mello, Filipe Martins de;
Zimmermann, Adriana Fontes;
Pereira, Ivânio Alves;
Souza, Ilíada Rainha de.
ABSTRACT Objective: This study aims to analyze the relationship of programmed cell death 1 (PDCD1) gene polymorphism (PD1.3G/A - rs11568821) with features of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in a Southern Brazilian population. Methods: Polymerase chain reaction-restricti...
Abstract BACKGROUND: Kaposiform hemangioendothelioma is a rare, intermediate, malignant tumor. The tumor's etiology remains unknown and there are no specific treatments. OBJECTIVE: In this study, we performed exome sequencing using DNA from a Kaposiform hemangioendothelioma patient, and found putative ...
Exoma,
Hemangioendotelioma/genética,
Hemangioendotelioma/patología,
Síndrome de Kasabach-Merritt/genética,
Síndrome de Kasabach-Merritt/patología,
Mutación Missense,
Análisis Mutacional de ADN,
Frecuencia de los Genes,
Genes APC,
Genes p53/genética,
Estudios de Asociación Genética,
Imagen por Resonancia Magnética,
Valores de Referencia,
Tejido Subcutáneo/patología
ABSTRACT Objective: Studies have indicated that AMPK play critical roles in the regulation of innate immunity and inflammatory responses. However, the role of the polymorphisms of PRKAA1 gene in immune-response to infectious organisms remains unknown. To evaluate the potential role of PRKAA1/AMPKα1...
Abstract Background: Association between angiotensin-converting-enzyme (ACE) gene polymorphisms and different clinical and echocardiographic outcomes has been described in patients with heart failure (HF) and coronary artery disease. Studying the genetic profile of the local population with both disease...
Inhibidores de la Enzima Convertidora de Angiotensina/efectos adversos,
Inhibidores de la Enzima Convertidora de Angiotensina/análisis,
Enfermedad de la Arteria Coronaria/diagnóstico por imagen,
Enfermedad de la Arteria Coronaria/genética,
Ecocardiografía,
Frecuencia de los Genes,
Genotipo,
Insuficiencia Cardíaca/diagnóstico por imagen,
Insuficiencia Cardíaca/genética,
Ventrículos Cardíacos/diagnóstico por imagen,
Peptidil-Dipeptidasa A/genética,
Polimorfismo Genético,
Estudios Retrospectivos,
Volumen Sistólico/fisiología,
Disfunción Ventricular Izquierda/diagnóstico por imagen
Pereira, Patrícia de Araújo;
Alvim-Soares Júnior, António Marcos;
Sandrim, Valéria Cristina;
Lanna, Carla Márcia Moreira;
Souza-Costa, Débora Cristine;
Belo, Vanessa de Almeida;
Paula, Jonas Jardim de;
Tanus-Santos, José Eduardo;
Romano-Silva, Marco Aurélio;
Miranda, Débora Marques de.
Abstract Objective: Obesity is a chronic disease caused by both environmental and genetic factors. Epidemiological studies have documented that increased energy intake and sedentary lifestyle, as well as a genetic contribution, are forces behind the obesity epidemic. Knowledge about the interaction betw...
Abstract:CYP2C9, CYP2C19 and CYP2D6 metabolize around 40 % of drugs and their genes vary across populations. The Costa Rican population has a trihybrid ancestry and its key geographic location turns it into a suitable scenario to evaluate interethnic differences across populations. This study aims to des...
Alelos,
Indio Americano o Nativo de Alaska/genética,
Pueblo Asiatico/genética,
Población Negra/genética,
Costa Rica/etnología,
Citocromo P-450 CYP2C19/genética,
Citocromo P-450 CYP2C9/genética,
Citocromo P-450 CYP2D6/genética,
Frecuencia de los Genes,
Genotipo,
Polimorfismo Genético,
Reacción en Cadena en Tiempo Real de la Polimerasa,
Valores de Referencia,
Autoinforme
Objective: To explore the association of three polymorphisms of the serotonin receptor 1Dβ gene (HTR1B) in the etiology of eating disorders and their relationship with clinical characteristics. Methods: We analyzed the G861C, A-161T, and A1180G polymorphisms of the HTR1B gene through a family-based...
Análisis del Polimorfismo de Longitud de Fragmentos Amplificados,
Anorexia Nerviosa/genética,
Anorexia Nerviosa/fisiopatología,
Ansiedad/complicaciones,
Ansiedad/fisiopatología,
Bulimia Nerviosa/fisiopatología,
Depresión/complicaciones,
Depresión/fisiopatología,
Familia,
Frecuencia de los Genes,
Estudios de Asociación Genética/métodos,
Técnicas de Genotipaje,
Polimorfismo de Nucleótido Simple,
Valor Predictivo de las Pruebas,
Receptor de Serotonina 5-HT1B/genética,
Factores de Riesgo,
Índice de Severidad de la Enfermedad,
Escala de Ansiedad ante Pruebas,
Bulimia Nerviosa/genética
Abstract Background In the current study we aimed to find out the impact of cytokine-inducible Src homology 2 domain protein (CISH) gene polymorphisms on the risk of pulmonary tuberculosis (PTB) in a sample of Iranian population. Materials and methods Polymorphisms of CISH rs2239751, rs414171, and rs67...
ABSTRACT Objective To study the HLA of class 1and 2 in a multiple sclerosis (MS) population to verify the susceptibility for the disease in the Southern Brazil. Methods We analyzed patients with MS and controls, by direct sequencing of the genes related to HLA DRB1, DQB1, DPB1, A, B and C alleles wit...
Alelos,
Brasil,
Estudios de Casos y Controles,
Población Blanca,
Frecuencia de los Genes,
Predisposición Genética a la Enfermedad/genética,
Genotipo,
Antígenos de Histocompatibilidad Clase I/genética,
Antígenos de Histocompatibilidad Clase II/genética,
Fenómenos Inmunogenéticos,
Esclerosis Múltiple/etnología,
Esclerosis Múltiple/genética
