Lipoproteins and Cardiovascular Health

CSDE1 is a Post-Transcriptional Regulator of the LDL Receptor

A genome-wide CRISPR screen identifies CSDE1 as a key regulator of hepatic LDLR mRNA decay in vivo, making it a promising target for heart disease.

An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential for early cardiovascular disease intervention

The paper investigates the impact of the LDLR p.G137S variant on metabolic health and cardiovascular disease risk in Greenlanders, finding it increases FH and cardiovascular disease risk in up to 30% of the population.

Genetically predicted on-statin LDL response is associated with higher intracerebral hemorrhage risk

This study uses Mendelian Randomization to show that a higher genetic response to statins is linked to increased intracerebral hemorrhage risk among statin users.

Response to Polygenic Risk: Results of the MyGeneRank Mobile Application-Based Coronary Artery Disease Study

This study evaluates the impact of coronary artery disease polygenic risk scores on lipid-lowering therapy initiation via a mobile application, finding higher therapy rates among high-risk individuals.

Metabolomic signatures of lipid-modifying therapies using drug target Mendelian randomization

This study uses Mendelian randomization to compare the effects of lipid-modifying drug targets on CAD risk and blood metabolome traits across 115,082 UK Biobank participants.

Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Historical Cholesterol Exposure

This study shows that FH genetic variants increase CAD risk even after adjusting for multiple LDL-C measurements from EHRs, indicating LDL-C data alone cannot fully explain the risk.

Protective lipid-lowering genetic variants in healthy older individuals without coronary heart disease

The paper identifies lipid-lowering genetic variants in older adults without CHD, showing their association with lower LDL-C and reduced statin use.

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

This study investigates the impact of heterozygous ABCG5 LoF variants on LDL-C levels and CAD risk, finding a significant association with elevated LDL-C and doubled CAD risk.

Familial hypercholesterolemia: a single-nucleotide variant (SNV) in mosaic at the Low density lipoprotein receptor (LDLR)

The paper reports a mosaic LDLR single nucleotide variant in a familial hypercholesterolemia patient, detected using NGS and confirmed by pyrosequencing.

LPA and APOE are associated with statin selection in the UK Biobank

This study identifies genetic variants in APOE and LPA associated with statin selection and higher intensity statin doses in the UK Biobank.

Investigation of an LPA KIV-2 nonsense mutation in 11,000 individuals: the importance of linkage disequilibrium structure in LPA genetics.

The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.

Analysis of exome-sequenced UK Biobank subjects implicates genes affecting risk of hyperlipidaemia

The paper identifies genes associated with hyperlipidaemia risk using exome data from UK Biobank, finding significant associations with HUWE1 and other genes.

ApoE e2 and aging-related outcomes in 379,000 UK Biobank participants

The paper assesses the effects of ApoE e2 variants on aging-related outcomes using UK Biobank data, finding protective effects for e2e3 but not e2e2.

In silico prediction of blood cholesterol levels from genotype data

This study presents a framework for predicting blood cholesterol levels from genotype data by optimizing a simulation algorithm using literature-based patient cholesterol levels.

A transient amphipathic helix in the PCSK9 prodomain facilitates low-density lipoprotein binding

This study identifies a transient amphipathic helix in PCSK9's prodomain that facilitates LDL binding, with mutations affecting this structure altering binding affinity and activity.

Lipoprotein Signatures of Cholesteryl Ester Transfer Protein and HMG-CoA Reductase Inhibition

The paper examines the effects of CETP and HMGCR genetic inhibition on lipoprotein profiles and CHD risk, finding distinct impacts on cholesterol and triglyceride compositions.

Genetic Testing Preferences and Intentions in U.S. Patients with Clinically Diagnosed Familial Hypercholesterolemia

This study examines factors influencing genetic testing intentions in patients with familial hypercholesterolemia, finding psychological reassurance is the main predictor.

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

The paper analyzes genetic variants at the PCSK9 locus to assess their phenotypic effects on lipid levels and disease outcomes, finding concordance with PCSK9 inhibitor trials for myocardial infarction but discordance for type 2 diabetes.

Use of polygenic risk scores and other molecular markers to enhance cardiovascular risk prediction: Prospective cohort study and modelling analysis

This study evaluates how adding polygenic risk scores and clinical biochemistry markers to conventional CVD risk models improves prediction accuracy and informs statin therapy decisions in a UK primary care setting.

A prostaglandin F2 alpha analog protects from statin-induced myopathic changes in primary human muscle cells

This study shows statins alter gene and protein expression in human muscle cells, with a prostaglandin F2 alpha analog potentially mitigating these effects.

Long-Term Exposure to Elevated Lipoprotein(a) Levels, Parental Lifespan and Risk of Mortality

This study investigates the association between elevated Lp(a) levels, parental lifespan, and long-term mortality risk using genetic and observational data.

Genetic inhibition of PCSK9, atherogenic lipoprotein concentrations, and calcific aortic valve stenosis

This study shows genetic inhibition of PCSK9 lowers lipoprotein levels and reduces risk of CAD and CAVS, with PCSK9 present in calcified aortic valves and induced by oxidative stress.

Molecular Screening of Familial Hypercholesterolemia in the Icelandic Population

The paper develops an NGS panel to identify pathogenic LDLR mutations in Icelandic FH families and population-based samples with high cholesterol.

Large-scale phenome-wide association study of PCSK9 loss-of-function variants demonstrates protection against ischemic stroke

This paper identifies a protective effect of PCSK9 loss-of-function variant rs11591147 against ischemic stroke using UK Biobank data.

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.

CETP inhibition and ADCY9 genotype: evidence of a qualitative pharmacogenetic interaction in cardiovascular disease?

This paper meta-analyzes two RCTs to assess if ADCY9 genotype modifies CETP inhibitor response on cardiovascular risk, finding heterogeneity and a trend across genotypes.

Exploring repositioning opportunities and side-effects of statins: a Mendelian randomization study of HMG-CoA reductase inhibition with 55 complex traits

This study uses Mendelian randomization to investigate statin repositioning opportunities and side-effects across 55 traits, finding associations between LDL-C reduction and various outcomes.

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

This study assesses the association between polygenic risk scores for LDL-C and TG with CAD risk, finding a proportional relationship with lipid levels and partial independence from a CAD PRS.

Moving Beyond Clinical Risk Scores with a Mobile App for the Genomic Risk of Coronary Artery Disease

The paper introduces a mobile app, MyGeneRank, that provides individuals with their genomic risk of coronary artery disease to inform lifestyle and medication decisions.