The complex molecular genetics of familial hypercholesterolaemia

AJ Berberich, RA Hegele - Nature Reviews Cardiology, 2019 - nature.com
Familial hypercholesterolaemia is the most commonly encountered genetic condition that
predisposes individuals to premature cardiovascular disease. Nevertheless, most patients …

[HTML][HTML] DNA methylation in human lipid metabolism and related diseases

K Mittelstraß, M Waldenberger - Current opinion in lipidology, 2018 - journals.lww.com
The current review provides a literature overview of epigenetic modifications in lipid
metabolism and other lipid-related phenotypes and diseases focusing on EWAS of DNA …

[HTML][HTML] Blood lipids influence DNA methylation in circulating cells

KF Dekkers, M van Iterson, RC Slieker, MH Moed… - Genome biology, 2016 - Springer
Background Cells can be primed by external stimuli to obtain a long-term epigenetic
memory. We hypothesize that long-term exposure to elevated blood lipids can prime …

[HTML][HTML] DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures

MC Gomez-Alonso, A Kretschmer, R Wilson… - Clinical …, 2021 - Springer
Background The discovery of robust and trans-ethnically replicated DNA methylation
markers of metabolic phenotypes, has hinted at a potential role of epigenetic mechanisms in …

Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia

O Marmontel, Y Abou-Khalil, O Bluteau… - … and Vascular Biology, 2023 - Am Heart Assoc
Background: Autosomal dominant hypercholesterolemia (ADH) is due to deleterious
variants in LDLR, APOB, or PCSK9 genes. Double heterozygote for these genes induces a …

Epigenetic contribution to the development and progression of vascular diabetic complications

H Rodriguez, A El-Osta - Antioxidants & Redox Signaling, 2018 - liebertpub.com
Significance: The number of people suffering from diabetes worldwide is steadily rising.
Complications from diabetes, including cardiovascular and renal disease, contribute to the …

[HTML][HTML] Subcutaneous Adipose Tissue Transcriptome Highlights Specific Expression Profiles in Severe Pediatric Obesity: A Pilot Study

C Berardo, V Calcaterra, A Mauri, S Carelli, L Messa… - Cells, 2023 - mdpi.com
The prevalence of pediatric obesity is rising rapidly worldwide, and “omic” approaches are
helpful in investigating the molecular pathophysiology of obesity. This work aims to identify …

[PDF][PDF] The interplay between metabolome, epigenome and metabolic syndrome in severe obesity: The influence of sex and age

S Pisoni - 2023 - roderic.uv.es
“Si el destino es importante, el viaje lo es aún más”. Ha sido un camino largo e intenso en el
que he aprendido mucho y he crecido a nivel formativo y emocional, tropezando, cayendo y …

Recent Highlights of ATVB Lipoproteins

JS Dron, J Lazarte, RA Hegele - Arteriosclerosis, Thrombosis, and …, 2018 - Am Heart Assoc
ABCA1 is central to reverse cholesterol transport; its transcription is regulated by LXRs (liver
X receptors) in response to intracellular cholesterol. 26 Nelson et al27 analyzed the …

[HTML][HTML] Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and “Missing” Heritability

JM Martín-Campos - Biomedicines, 2021 - mdpi.com
Changes in plasma low-density lipoprotein cholesterol (LDL-c) levels relate to a high risk of
developing some common and complex diseases. LDL-c, as a quantitative trait, is …