Eliana Portilla-Fernández
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View article: Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study Open
Progressive dilation of the infrarenal aortic diameter is a consequence of the ageing process and is considered the main determinant of abdominal aortic aneurysm (AAA). We aimed to investigate the genetic and clinical determinants of abdom…
View article: Common and Rare Variants Genetic Association Analysis of Circulating Neutrophil Extracellular Traps
Common and Rare Variants Genetic Association Analysis of Circulating Neutrophil Extracellular Traps Open
Introduction Neutrophils contribute to host defense through different mechanisms, including the formation of neutrophil extracellular traps (NETs). The genetic background and underlying mechanisms contributing to NET formation remain uncle…
View article: Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair‐deficient mice
Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair‐deficient mice Open
Dietary restriction (DR) and rapamycin extend healthspan and life span across multiple species. We have recently shown that DR in progeroid DNA repair‐deficient mice dramatically extended healthspan and trippled life span. Here, we show th…
View article: Deciphering the role of epigenetic modifications in fatty liver disease: A systematic review
Deciphering the role of epigenetic modifications in fatty liver disease: A systematic review Open
Background Fatty liver disease (FLD), primarily nonalcoholic fatty liver disease (NAFLD), is the most common liver disorder that affects a quarter of the global population. NAFLD is a spectrum of disease ranging from simple steatosis to no…
View article: Epigenome-wide association meta-analysis of DNA methylation with coffee and tea consumption
Epigenome-wide association meta-analysis of DNA methylation with coffee and tea consumption Open
Coffee and tea are extensively consumed beverages worldwide. Observational studies have shown contradictory findings for the association between consumption of these beverages and different health outcomes. Epigenetics is suggested as a me…
View article: Local endothelial DNA repair deficiency causes aging-resembling endothelial-specific dysfunction
Local endothelial DNA repair deficiency causes aging-resembling endothelial-specific dysfunction Open
We previously identified genomic instability as a causative factor for vascular aging. In the present study, we determined which vascular aging outcomes are due to local endothelial DNA damage, which was accomplished by genetic removal of …
View article: Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure Open
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insight…
View article: Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure Open
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insight…
View article: Epigenetics and Inflammatory Markers: A Systematic Review of the Current Evidence
Epigenetics and Inflammatory Markers: A Systematic Review of the Current Evidence Open
Epigenetic mechanisms have been suggested to play a role in the genetic regulation of pathways related to inflammation. Therefore, we aimed to systematically review studies investigating the association between DNA methylation and histone …
View article: Dissecting the association of autophagy-related genes with cardiovascular diseases and intermediate vascular traits: A population-based approach
Dissecting the association of autophagy-related genes with cardiovascular diseases and intermediate vascular traits: A population-based approach Open
Autophagy is involved in cellular homeostasis and maintenance and may play a role in cardiometabolic health. We aimed to elucidate the role of autophagy in cardiometabolic traits by investigating genetic variants and DNA methylation in aut…
View article: DNA Damage: A Main Determinant of Vascular Aging
DNA Damage: A Main Determinant of Vascular Aging Open
Vascular aging plays a central role in health problems and mortality in older people. Apart from the impact of several classical cardiovascular risk factors on the vasculature, chronological aging remains the single most important determin…