17,060 results match your criteria: "Genetics of LDL Cholesterol"

Endothelial KLF11 is a novel protector against diabetic atherosclerosis.

Cardiovasc Diabetol

October 2024

Frankel Cardiovascular Center, Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, MI, 48109, USA.

Article Synopsis
  • Atherosclerotic cardiovascular diseases are the top cause of death for diabetic patients, with dysfunctional endothelial cells being a key factor in their development, especially in diabetes.
  • KLF11, a protein linked to diabetes, is found to play a protective role in vascular health, but its involvement in diabetic atherosclerosis was previously unknown.
  • Research reveals that a lack of KLF11 worsens atherosclerosis in diabetic mice, while increased KLF11 levels help prevent it; this suggests that targeting KLF11 could lead to new treatments for cardiovascular issues in diabetes.
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Article Synopsis
  • Familial hypercholesterolemia (FH) is an underdiagnosed genetic condition that increases the risk of early cardiovascular issues, highlighting the need for early interventions in children.
  • An interventional study with 10 patients showed that those without FH achieved significant lipid level improvements through lifestyle changes alone, while genetically confirmed FH patients did not see similar benefits without medication.
  • The study emphasizes the critical role of genetic testing for FH in guiding treatment decisions, as it may not be routinely included in current screening practices.
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Article Synopsis
  • This study aimed to assess the reliability of a short food frequency questionnaire designed to evaluate dietary patterns associated with type 2 diabetes risk and to create a Diabetes Dietary Quality Index.
  • Healthy participants completed the questionnaire, and the results indicated good reproducibility, showing consistent correlation in responses.
  • Findings revealed that a higher Diabetes Dietary Quality Index score was linked to improved metabolic health, including lower post-meal glucose and insulin levels, as well as better cholesterol profiles.
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From Mother to Child: Epigenetic Signatures of Hyperglycemia and Obesity during Pregnancy.

Nutrients

October 2024

Department of Medicine and Aging, School of Medicine, and Health Sciences, "G. D'Annunzio" University, Via dei Vestini, Chieti-Pescara, 66100 Chieti, Italy.

Article Synopsis
  • In utero exposure to maternal conditions like obesity and Gestational Diabetes Mellitus (GDM) can negatively impact newborns through changes in DNA methylation patterns.
  • The study examined 101 Caucasian mother-infant pairs, finding that lower DNA methylation levels in newborns from GDM mothers were linked to lower birth weight and size.
  • Additionally, higher DNA methylation levels on the fetal side of the placenta were observed in obese mothers, correlating with increased maternal cholesterol levels, further influencing the metabolic health of the children.
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Background And Objectives: Phase I and phase II drug-metabolizing enzymes are crucial for the metabolism and elimination of various endogenous and exogenous compounds, such as small-molecule hormones, drugs, and xenobiotic carcinogens. While in vitro and animal studies have suggested a link between genetic mutations in these enzymes and an increased risk of cancer, human in vivo studies have provided limited supportive evidence.

Methods: Genome-wide association studies (GWASs) are a powerful tool for identifying genes associated with specific diseases by comparing two large groups of individuals.

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Loureirin B Reduces Insulin Resistance and Chronic Inflammation in a Rat Model of Polycystic Ovary Syndrome by Upregulating GPR120 and Activating the LKB1/AMPK Signaling Pathway.

Int J Mol Sci

October 2024

Guangxi Key Laboratory for Applied Fundamental Research of Zhuang Medicine-Key Laboratory Project under Guangxi Health Commission, Guangxi University of Chinese Medicine, Nanning 530001, China.

Polycystic ovary yndrome (PCOS) is a common metabolic disorder in women, which is usually associated with insulin resistance (IR) and chronic inflammation. Loureirin B (LrB) can effectively improve insulin resistance and alleviate chronic inflammation, and in order to investigate the therapeutic effect of LrB on polycystic ovary syndrome with insulin resistance (PCOS-IR), we conducted animal experiments. A PCOS-IR rat model was established by feeding a high-fat diet combined with letrozole (1 mg/kg·d for 21 days).

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Article Synopsis
  • A study found that Afro-Caribbeans have a lower mortality rate from coronary artery disease (CAD) and better lipid profiles compared to Europeans.
  • Researchers analyzed 705 Afro-Caribbeans, genotyping them for 13 lipid-related variants while calculating polygenic risk scores for LDL, HDL, and triglycerides.
  • The study revealed that higher LDL-PRS was linked to elevated LDL levels and an increased risk of CAD, while HDL-PRS and TG-PRS showed no significant association with CAD.
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Aims: Lipoprotein(a) [Lp(a)] levels are known to be mainly genetically determined. However, only scarce data are available on the intra-individual variability of Lp(a) levels across time.

Methods: We included adult patients (≥18 years old) who had baseline and follow-up Lp(a) measurements (between 1997 and 2024) with a minimum of one year apart.

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Clinical reality and challenges with familial hypercholesterolemia patients' management. 2024 results from the Regional Center for Rare Diseases (RCRD) Registry in Poland.

Int J Cardiol

January 2025

Department of Preventive Cardiology and Lipidology, Medical University of Lodz (MUL), Lodz, Poland; Department of Cardiology and Adult Congenital Heart Diseases, Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland. Electronic address:

Background: Despite advancements in early diagnosis and effective medications in last decade, most heterozygous familial hypercholesterolemia (heFH) patients still fail to achieve their low-density lipoprotein cholesterol (LDL-C) goals and remain at residual cardiovascular disease risk. We present recent data from the regional FH registry in Poland, highlighting the challenges and real-life clinical management of FH patients.

Methods: The registry is held at the Regional Centre for Rare Diseases, founded in 2016, at the 2nd largest, supraregional hospital in Poland, where >80 different rare diseases in patients from all over Poland are diagnosed and treated, including phenotypically or genetically diagnosed FH patients.

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The potential role of transcription factor sterol regulatory element binding proteins (SREBPs) in Alzheimer's disease.

Biomed Pharmacother

November 2024

Teaching Hospital of Shenyang Pharmaceutical University, General Hospital of Northern Theater Command, Shenyang 110016, PR China. Electronic address:

Sterol regulatory element binding proteins (SREBPs) are a series of cholesterol-related transcription factors. Their role in regulating brain cholesterol biosynthesis, amyloid accumulation, and tau tangles formation has been intensively studied in protein-protein interaction analysis based on genes in clinical databases. SREBPs play an important role in maintaining cholesterol homeostasis in the brain.

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Introduction: Pike perch () is a predatory freshwater fish, which is highly popular amongst consumers, owing to its white flesh with a delicate structure and mild flavor. Compared to wild pike perch, the diet of farmed ones has shifted from natural food to artificial feeds. These changes would affect the gut flora of the pike perch.

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Lomitapide: navigating cardiovascular challenges with innovative therapies.

Mol Biol Rep

October 2024

College of Dental Medicine, Lincoln Memorial University, LMU tower, 1705 St. Mary Street, Knoxville, TN, 37917, USA.

Article Synopsis
  • Dyslipidemia is a key risk factor for cardiovascular diseases, and current treatments primarily aim to lower LDL cholesterol levels to prevent conditions like atherosclerosis and myocardial infarction.
  • Homozygous Familial Hypercholesterolemia (HoFH) results from mutations in the LDL receptor, leading to very high LDL cholesterol levels, which often do not respond well to standard statin therapy.
  • Lomitapide, a microsomal triglyceride transfer protein inhibitor, has been approved for HoFH treatment; it effectively lowers LDL-C levels without affecting the LDL receptor and has been shown to reduce LDL-C by more than 50% in resistant cases.
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Key Clinical Message: Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease. Prompt diagnosis and aggressive lipid-lowering therapy can significantly reduce morbidity and mortality rates. Careful clinical assessment in resource-limited settings is essential for optimal outcomes.

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Article Synopsis
  • The study investigates the relationship between glucose-lipid metabolism, obesity indicators, and the risk of myocardial infarction using a two-sample Mendelian randomization analysis, making use of extensive genetic data from multiple datasets.
  • Key findings show that higher body mass index (BMI) and waist-to-hip ratio, along with other obesity-related measurements, are strongly associated with an increased risk of myocardial infarction, while higher levels of LDL cholesterol and triglycerides also contribute negatively.
  • The methods applied include inverse-variance weighted analysis, assessment of SNP heterogeneity, and multivariable adjustments for more accurate results, confirming the causal links between obesity metrics and heart attack risks.
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Body mass index-dependent association between cholesteryl ester transfer protein variants and atherometabolic risk factors in gestational diabetes mellitus.

J Matern Fetal Neonatal Med

December 2024

Laboratory of Genetic Disease and Perinatal Medicine and Key Laboratory of Birth Defects and Related Diseases of Women and Children of the Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P.R. China.

Article Synopsis
  • * Researchers compared 665 women with GDM to 1,044 without complications, analyzing their genetic makeup and metabolic profiles, which included lipid and glucose levels.
  • * Findings indicated that specific gene variations (rs708272 and rs1800775) were linked to changes in cholesterol and glucose metabolism, particularly in women who were overweight or obese, suggesting a genetic component that could affect health outcomes for both mothers and their babies.
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Article Synopsis
  • Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder that causes extremely high LDL cholesterol levels, leading to heart disease at an early age; lomitapide is a medication designed to lower these cholesterol levels in affected adults and is being tested for safety and efficacy in children.
  • The APH-19 study involved 43 pediatric patients aged 5-17 years on existing cholesterol treatments; they received varying doses of lomitapide over a 24-week period to measure its effect on LDL cholesterol levels and other lipid parameters.
  • Results indicated a significant decrease in LDL cholesterol by 53.5% after 24 weeks of treatment, suggesting lomitapide may be effective for managing cholesterol
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A decrease in the levels of low-density lipoprotein receptors (LDLRs) leads to the accumulation of LDL cholesterol (LDL-C) in the bloodstream, resulting in hypercholesterolemia and atherosclerotic cardiovascular diseases. Increasing the expression level or inducing the activity of LDLR in hepatocytes can effectively control hypercholesterolemia. Proprotein convertase subtilisin/kexin type 9 (PCSK9) protein, primarily produced in the liver, promotes the degradation of LDLR.

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Aims: The association and co-isolation of low-density lipoproteins (LDL) and extracellular vesicles (EVs) have been shown in blood plasma. Here we explore this relationship to better understand the role of EVs in atherogenesis.

Methods And Results: Wild type (WT), PCSK9, and LDLR C57BL/6 mice were used in this study.

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Article Synopsis
  • * The analysis indicated a positive association between higher levels of LDL-c and TG and increased risk of sarcoidosis, with significant odds ratios supporting this finding.
  • * Additionally, drug target randomization suggested that lowering LDL-c via PCSK9 inhibitors and reducing TG levels through LPL-targeted drugs could potentially decrease the risk of developing sarcoidosis.
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The prevalence of type 2 diabetes (T2D) varies among populations of different races/ethnicities. The influence of genetically proxied LDL cholesterol lowering through proprotein convertase subtilisin/kexin 9 (PCSK9) and HMG-CoA reductase (HMGCR) on T2D in non-European populations is not well established. A drug target Mendelian randomization approach was used to assess the effects of PCSK9 and HMGCR inhibition on T2D risk and glycemic traits in five populations: East Asian (EAS), South Asian (SAS), Hispanic (HISP), African (AFR), and Europe (EUR).

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Lower activity of cholesteryl ester transfer protein (CETP) and the risk of dementia: a Mendelian randomization analysis.

Alzheimers Res Ther

October 2024

Institute of Cardiovascular Science, Faculty of Population Health, University College London, 69-75 Chenies Mews, London, WC1E 6HX, UK.

Article Synopsis
  • * Utilizing Mendelian randomization, the study found that lower CETP levels were connected to beneficial impacts on various cardiovascular conditions and were also linked to greater brain volume and a reduced risk of Lewy body dementia and Parkinson's dementia.
  • * The findings indicate that targeting CETP could be a potential dementia treatment, particularly for individuals who carry the APOE-ε4 gene variant, which is associated with a higher risk of Alzheimer's disease.
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Genetic and Anthropometric Interplay: How Waist-to-Hip Ratio Modulates LDL-c Levels in Mexican Population.

Nutrients

October 2024

División de Estudios Sociales, Universidad Iberoamericana Ciudad de México, Mexico City 01219, Mexico.

Article Synopsis
  • The study explored the relationship between specific genetic variations (SNPs) and obesity, involving 396 obese Mexican mestizo individuals and 142 individuals with normal weight.
  • While most SNPs showed no significant link to obesity, the T allele of one SNP was associated with increased obesity risk.
  • The research also found that genetic risk scores interact with waist-to-hip ratio, affecting LDL cholesterol levels, highlighting the importance of considering both genetics and body composition in addressing cardiovascular health.
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Clinical Expression of Familial Hypercholesterolemia in Patients from France and French Canada Carrying Identical-by-Descent Pathogenic Gene Variants: A Proof-of-Concept Study.

J Clin Med

September 2024

Sorbonne-Université, Assistance Publique-Hôpitaux de Paris (APHP), INSERM Unité de Recherche sur les Maladies Cardiovasculaires et Métaboliques (UMRS) 1166, Hôpital Pitié-Salpêtrière, 75013 Paris, France.

Article Synopsis
  • * FH has a significant presence in French Canada due to historical founder effects, with certain variants passed down through generations in both France and Canada.
  • * This research compared cholesterol levels and cardiovascular risks of FH patients in France and French Canada, finding that those in France had significantly higher untreated cholesterol and LDL-c, underscoring the role of environmental factors in disease expression.
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  • Atorvastatin is a cholesterol-lowering medication, and this study focused on creating a pharmacokinetic and pharmacodynamic model for its use in Chinese lung transplant recipients who are also on voriconazole (VOR) and have different genetic backgrounds.
  • The research employed a nonlinear mixed-effects model to analyze how atorvastatin's effectiveness and clearance vary among these patients, considering factors like specific genotypes.
  • The study found that tailored dosing regimens (10, 20, and 40 mg) could help optimize atorvastatin's effectiveness while minimizing the risk of overexposure, especially for patients on VOR or with genetic mutations.
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Article Synopsis
  • The study examines the metabolic effects of intracytoplasmic sperm injection (ICSI) on male offspring, a topic that has received less research attention compared to its link to neurodevelopmental issues.
  • Researchers analyzed data from families at Shandong University, focusing on various health metrics of children aged 0-11 born through ICSI versus in vitro fertilization (IVF).
  • Findings show that ICSI-conceived children had lower fasting glucose, cholesterol, and LDL-C levels than those conceived through IVF, with notable influences from paternal overweight/obesity on these metabolic changes.
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