☆ 4.6 Article

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease

JAMA CARDIOLOGY (2023)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Article Cardiac & Cardiovascular Systems

Efficacy and Safety of an Investigational Single-Course CRISPR Base-Editing Therapy Targeting PCSK9 in Nonhuman Primate and Mouse Models

Richard G. Lee et al.

Summary: VERVE-101 is an investigational in vivo CRISPR base-editing medicine that can permanently lower low-density lipoprotein cholesterol by altering a single DNA base in the PCSK9 gene. The studies on nonhuman primates and mice demonstrated the efficacy, durability, tolerability, and lack of germline editing potential of VERVE-101.

CIRCULATION (2023)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Efficacy and Safety of an Investigational Single-Course CRISPR Base-Editing Therapy Targeting PCSK9 in Nonhuman Primate and Mouse Models

Richard G. Lee et al.

Summary: VERVE-101 is an in vivo CRISPR base-editing medicine that aims to permanently lower low-density lipoprotein cholesterol by altering a single DNA base in the PCSK9 gene. Studies on nonhuman primates and mice show that VERVE-101 is effective, durable, and well tolerated, with no evidence of germline editing.

CIRCULATION (2023)

添加到收藏夹

Article Genetics & Heredity

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Sean J. Jurgens et al.

Summary: This study analyzed the contribution of rare variants to cardiometabolic diseases using data from UK Biobank. They identified gene-based associations and found several genes associated with height, blood lipid, or glucose levels.

NATURE GENETICS (2022)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure

Shoa L. Clarke et al.

Summary: In this study, the risk of carrying an FH variant was investigated in relation to coronary artery disease using electronic health record data. The results showed that the risk associated with FH variant carriers cannot be fully captured by LDL-C data available in the electronic health record, even when considering longitudinal measurements spanning more than a decade.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2022)

添加到收藏夹

Editorial Material Cardiac & Cardiovascular Systems

How to live to 100 before developing clinical coronary artery disease: a suggestion

Eugene Braunwald

EUROPEAN HEART JOURNAL (2022)

添加到收藏夹

Review Cardiac & Cardiovascular Systems

Compounding Benefits of Cholesterol-Lowering Therapy for the Reduction of Major Cardiovascular Events: Systematic Review and Meta-Analysis

Nelson Wang et al.

Summary: The aim of this study was to evaluate the relationship between lipid-lowering drug exposure time and relative risk reduction of major cardiovascular events in randomized clinical trials. The results showed that the relative risk reduction of major vascular events associated with lowering LDL-C increased with longer durations of treatment.

CIRCULATION-CARDIOVASCULAR QUALITY AND OUTCOMES (2022)

添加到收藏夹

Article Multidisciplinary Sciences

The power of genetic diversity in genome-wide association studies of lipids

Sarah E. Graham et al.

Summary: This study conducted a multi-ancestry, genome-wide genetic discovery meta-analysis of lipid levels in approximately 1.65 million individuals, including 350,000 of non-European ancestries. The findings demonstrate that increasing diversity rather than studying additional individuals of European ancestry results in substantial improvements in fine-mapping functional variants and portability of polygenic prediction, with modest gains in the number of discovered loci and ancestry-specific variants. This highlights the importance of including diverse populations in genetic studies to improve the accuracy and equity of polygenic scores in clinical practice.

NATURE (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Daniel Taliun et al.

Summary: The TOPMed program aims to study the genetic architecture and biology of heart, lung, blood, and sleep disorders to improve diagnosis, treatment, and prevention of these diseases. Resources include a variant browser, genotype imputation server, and genomic and phenotypic data available through dbGaP. The study detected a large number of rare genetic variants, providing insights into mutation processes and recent human evolutionary history.

NATURE (2021)

添加到收藏夹

Article Multidisciplinary Sciences

In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates

Kiran Musunuru et al.

Summary: This study demonstrates the efficient and precise modification of disease-related genes in living cynomolgus monkeys using CRISPR base editors delivered in vivo via lipid nanoparticles. The results provide proof-of-concept for the potential therapeutic application of CRISPR base editors in making precise single-nucleotide changes in target genes, supporting a 'once-and-done' approach for the treatment of diseases.

NATURE (2021)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

The ARIC (Atherosclerosis Risk In Communities) Study JACC Focus Seminar 3/8

Jacqueline D. Wright et al.

Summary: The ARIC project, initiated in 1987, focuses on community-based surveillance for myocardial infarction and coronary heart disease, aiming to understand the decline in CHD mortality and identify determinants of subclinical atherosclerosis and CHD in middle-aged Black and White adults. Through research in areas such as health disparities, genomics, heart failure, and prevention, ARIC has published over 2,300 papers with significant clinical impact, highlighting the importance of population-based research in improving health.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2021)

添加到收藏夹

Article Genetics & Heredity

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Joseph D. Szustakowski et al.

Summary: The UK Biobank Exome Sequencing Consortium is a successful collaborative project between UK Biobank and biopharmaceutical companies, providing valuable rare coding variation resources for drug discovery. The project has strengthened academic and industry ties and promoted interaction and learning within the wider research community.

NATURE GENETICS (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

Parsa Akbari et al.

Summary: Large-scale human exome sequencing identified rare protein-coding variants with significant associations with body mass index (BMI), including G protein-coupled receptors. Protein-truncating variants in GPR75 were found to be associated with lower BMI and reduced risk of obesity, suggesting it as a potential therapeutic target for obesity.

SCIENCE (2021)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Association Between Cumulative Low-Density Lipoprotein Cholesterol Exposure During Young Adulthood and Middle Age and Risk of Cardiovascular Events

Yiyi Zhang et al.

Summary: This study found that cumulative LDL-C and TWA LDL-C during young adulthood and middle age were associated with the risk of incident coronary heart disease (CHD), independent of midlife LDL-C levels. These findings suggest that past levels of LDL-C may inform strategies for primary prevention of CHD and that maintaining optimal LDL-C levels at an earlier age may reduce the lifetime risk of developing atherosclerotic CVD.

JAMA CARDIOLOGY (2021)

添加到收藏夹

Article Medicine, General & Internal

Age-related trends in lipid levels: a large-scale cross-sectional study of the general Chinese population

Lei Feng et al.

BMJ OPEN (2020)

添加到收藏夹

Article Genetics & Heredity

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

Connor A. Emdin et al.

PLOS GENETICS (2020)

添加到收藏夹

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

添加到收藏夹

Article Medicine, General & Internal

Two Phase 3 Trials of Inclisiran in Patients with Elevated LDL Cholesterol

Kausik K. Ray et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

添加到收藏夹

Article Medicine, General & Internal

Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia

Frederick J. Raal et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

添加到收藏夹

Article Medicine, General & Internal

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

Aniruddh P. Patel et al.

JAMA NETWORK OPEN (2020)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Time Course of LDL Cholesterol Exposure and Cardiovascular Disease Event Risk

Michael J. Domanski et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2020)

添加到收藏夹

Article Multidisciplinary Sciences

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

Akl C. Fahed et al.

NATURE COMMUNICATIONS (2020)

添加到收藏夹

Article Obstetrics & Gynecology

Lipid profile changes during the menopausal transition

Veronica Inaraja et al.

MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY (2020)

添加到收藏夹

Review Pharmacology & Pharmacy

Efficacy and Safety of Mipomersen: A Systematic Review and Meta-Analysis of Randomized Clinical Trials

Federica Fogacci et al.

DRUGS (2019)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease

Gina M. Peloso et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2019)

添加到收藏夹

Article Medicine, General & Internal

Association of Genetic Variants Related to Combined Exposure to Lower Low-Density Lipoproteins and Lower Systolic Blood Pressure With Lifetime Risk of Cardiovascular Disease

Brian A. Ference et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2019)

添加到收藏夹

Article Medicine, General & Internal

20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia

I. K. Luirink et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

添加到收藏夹

Article Public, Environmental & Occupational Health

Harmonization of Respiratory Data From 9 US Population-Based Cohorts The NHLBI Pooled Cohorts Study

Elizabeth C. Oelsner et al.

AMERICAN JOURNAL OF EPIDEMIOLOGY (2018)

添加到收藏夹

Article Multidisciplinary Sciences

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Connor A. Emdin et al.

NATURE COMMUNICATIONS (2018)

添加到收藏夹

Article Multidisciplinary Sciences

The UK Biobank resource with deep phenotyping and genomic data

Clare Bycroft et al.

NATURE (2018)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke

Abhiram S. Rao et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel

Brian A. Ference et al.

EUROPEAN HEART JOURNAL (2017)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

Nathan O. Stitziel et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2017)

添加到收藏夹

Article Genetics & Heredity

Exome-wide association study of plasma lipids in >300,000 individuals

Dajiang J. Liu et al.

NATURE GENETICS (2017)

添加到收藏夹

Review Genetics & Heredity

Genetics of coronary artery disease: discovery, biology and clinical translation

Amit V. Khera et al.

NATURE REVIEWS GENETICS (2017)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

PCSK9 Loss-of-Function Variants, Low-Density Lipoprotein Cholesterol, and Risk of Coronary Heart Disease and Stroke Data From 9 Studies of Blacks and Whites

Shia T. Kent et al.

CIRCULATION-CARDIOVASCULAR GENETICS (2017)

添加到收藏夹

Article Medicine, General & Internal

Familial hypercholesterolaemia

Joep C. Defesche et al.

NATURE REVIEWS DISEASE PRIMERS (2017)

添加到收藏夹

Article Public, Environmental & Occupational Health

Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population

Anna Fry et al.

AMERICAN JOURNAL OF EPIDEMIOLOGY (2017)

添加到收藏夹

Review Biochemistry & Molecular Biology

Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants

Jacqueline S. Dron et al.

CURRENT OPINION IN LIPIDOLOGY (2017)

添加到收藏夹

Review Medicine, General & Internal

Association Between Lowering LDL-C and Cardiovascular Risk Reduction Among Different Therapeutic Interventions A Systematic Review and Meta-analysis

Michael G. Silverman et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2016)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

Amit V. Khera et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)

添加到收藏夹

Article Medicine, General & Internal

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

Frederick F. Dewey et al.

NEW ENGLAND JOURNAL OF MEDICINE (2016)

添加到收藏夹

Editorial Material Medicine, General & Internal

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

Cathie Sudlow et al.

PLOS MEDICINE (2015)

添加到收藏夹

Article Medicine, General & Internal

Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease

Nathan O. Stitziel et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

添加到收藏夹

Article Medicine, General & Internal

Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

Jacy Crosby et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Mipomersen, an apolipoprotein B synthesis inhibitor, lowers low-density lipoprotein cholesterol in high-risk statin-intolerant patients: a randomized, double-blind, placebo-controlled trial

Maartje E. Visser et al.

EUROPEAN HEART JOURNAL (2012)

添加到收藏夹

Article Cardiac & Cardiovascular Systems

Effect of Long-Term Exposure to Lower Low-Density Lipoprotein Cholesterol Beginning Early in Life on the Risk of Coronary Heart Disease A Mendelian Randomization Analysis

Brian A. Ference et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2012)

添加到收藏夹

Article Medicine, General & Internal

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

JC Cohen et al.

NEW ENGLAND JOURNAL OF MEDICINE (2006)

添加到收藏夹

Article Genetics & Heredity

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

C Jonathan et al.

NATURE GENETICS (2005)

添加到收藏夹

Review Biochemistry & Molecular Biology

Familial hypobetalipoproteinemia: a review

G Schonfeld

JOURNAL OF LIPID RESEARCH (2003)

添加到收藏夹

Article Public, Environmental & Occupational Health

Multi-ethnic study of atherosclerosis: Objectives and design

DE Bild et al.

AMERICAN JOURNAL OF EPIDEMIOLOGY (2002)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.