Celis-Morales, Carlos;
Villagrán, Marcelo;
Mardones, Lorena;
Martínez-Sanguinetti, María Adela;
Leiva-Ordoñez, Ana María;
Carrasco-Marín, Fernanda;
Ulloa, Natalia;
Martorell, Miquel;
Lasserre-Laso, Nicole;
Díaz-Martinez, Ximena;
Cigarroa, Igor;
Concha-Cisternas, Yeny;
Troncoso-Pantoja, Claudia;
Lanuza, Fabian;
Vásquez-Gómez, Jaime;
Parra-Soto, Solange;
Petermann-Rocha, Fanny.
ANTECEDENTES: Tanto el gen FTO (Fat-mass and obesity-associated-gene) y el tiempo sedente se asocian a obesidad, sin embargo, se desconoce si el tiempo sedente puede modificar la predisposición genética a la obesidad. Por ende, el objetivo de este estudio fue investigar si la asociación entre el polim...
Adiposidad/genética,
Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética,
Índice de Masa Corporal,
Chile,
Estudios Transversales,
Predisposición Genética a la Enfermedad/genética,
Genotipo,
Obesidad/genética,
Polimorfismo de Nucleótido Simple/genética,
Factores de Riesgo,
Conducta Sedentaria,
Circunferencia de la Cintura/genética
Abstract Toll-like receptor 9 (TLR9) is an important component of the innate immune system and have been associated with several autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their...
BACKGROUND: Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present study examines the potential association between SNPs in driver genes SF3B1 (rs...
SUMMARY The occurrence of fractures in young individuals is frequently overlooked by physicians, especially when associated with exercise or trauma. Nevertheless, multiple fractures should always be investigated since underlying conditions can predispose to such events. We describe here the case of a you...
ABSTRACT Objective: Globally developing metabolic syndrome (MetS) prevalence as a major health problem can be related to multiple factors of genetic and environmental. Dimethylaminohydrolase 2 (DDAH2) is the main enzyme implicated in the cardiovascular system, which regulates the nitric oxide pathway. T...
Nagy, Tauana Rodrigues;
Maistro, Simone;
Encinas, Giselly;
Katayama, Maria Lucia Hirata;
Pereira, Glaucia Fernanda de Lima;
Gaburo-Júnior, Nelson;
Franco, Lucas Augusto Moyses;
Gouvêa, Ana Carolina Ribeiro Chaves de;
Diz, Maria del Pilar Estevez;
Leite, Luiz Antonio Senna;
Folgueira, Maria Aparecida Azevedo Koike.
OBJECTIVES: In breast cancer (BC) patients, the frequency of germline BRCA mutations (gBRCA) may vary according to the ethnic background, age, and family history of cancer. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the second most common somatic mutated gene in BC...
Intrauterine growth restriction (IUGR) is related to a higher risk of neonatal mortality, minor cognitive deficit, metabolic syndrome, and cardiovascular disease in adulthood. In previous studies, genetic variants in the FTO (fat mass and obesity-associated) and PPARγ (peroxisome proliferator-activa...
Breast cancer (BC), a heterogeneous, aggressive illness with high mortality, is essentially a genomic disease. While the high-penetrance genes BRCA1 and BRCA2 play important roles in tumorigenesis, moderate- and low-penetrance genes are also involved. Single-nucleotide polymorphisms (SNPs) in microRNA (m...
Betacoronavirus/genética,
Infecciones por Coronavirus/genética,
Epigénesis Genética,
Pandemias,
Neumonía Viral/genética,
Enzima Convertidora de Angiotensina 2,
COVID-19,
Infecciones por Coronavirus/epidemiología,
Resistencia a la Enfermedad/genética,
Predisposición Genética a la Enfermedad/genética,
Variación Genética,
Genoma Humano,
Genoma Viral,
Genotipo,
Antígenos HLA-B/genética,
Haplotipos,
Peptidil-Dipeptidasa A/genética,
Neumonía Viral/epidemiología,
ARN Viral/genética,
Receptores Virales/genética,
SARS-CoV-2
Abstract Instruction: Noise-induced hearing loss is a leading occupational disease caused by gene-environment interaction. The Grainy Like 2, GRHL2, is a candidate gene. In this regard, many studies have evaluated the association between GRHL2 and noise-induced hearing loss, although the results are amb...
