Abstract:
PURPOSE OF REVIEW:To review how leveraging familial hypercholesterolemia registries can impact molecular genetic research and precision medicine. RECENT FINDINGS:Familial hypercholesterolemia is both much more common and more phenotypically heterogeneous than previously thought with some evidence for significant genotype to phenotype correlations. Genetic testing for familial hypercholesterolemia is becoming both more widely available and cheaper, spurring conversations about its clinical utility. SUMMARY:In most countries, familial hypercholesterolemia is underdiagnosed and diagnosed later in life, often after the onset of coronary heart disease (CHD). Familial hypercholesterolemia is undertreated; low goal attainment and additional modifiable risk factors further increase CHD risk. Familial hypercholesterolemia epitomizes the goal of precision medicine to define a subset of individuals with a high risk of morbidity and mortality through genetic diagnosis to manage and treat the risk accordingly. Genetic cascade screening can be used to identify familial hypercholesterolemia patients at a younger age and start timely treatment to prevent CHD. Familial hypercholesterolemia registries are tools for clinical research and improving healthcare planning and patient care. As genotype and phenotype correlations in familial hypercholesterolemia become increasingly understood, this information will likely play a more important role in diagnosis and treatment especially as the cost of genetic testing continues to decline.
journal_name
Curr Opin Lipidoljournal_title
Current opinion in lipidologyauthors
Kindt I,Mata P,Knowles JWdoi
10.1097/MOL.0000000000000398subject
Has Abstractpub_date
2017-04-01 00:00:00pages
152-160issue
2eissn
0957-9672issn
1473-6535journal_volume
28pub_type
杂志文章,评审abstract::PURPOSE OF REVIEW This review discusses recent progress in the role of ATP-binding cassette proteins ABCG5 and G8 in dietary sterol absorption, excretion and pathogenesis of cardiovascular disease. RECENT FINDINGS Identification of the genetic defect(s) underlying sitosterolemia has led to a renewed interest in the me...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/01.mol.0000083763.66245.18
更新日期:2003-08-01 00:00:00
abstract::The metabolism of chylomicrons and their remnants is a highly facilitated route to distribute energy from the diet for storage in adipose tissue or immediate use in the muscles. It has been proposed that chylomicron remnants are atherogenic, and a delayed clearance of chylomicron remnants seems to be associated with c...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-199506000-00003
更新日期:1995-06-01 00:00:00
abstract:PURPOSE OF REVIEW:In the last 2 years, significant advances in the understanding of HDL particle structure and the associations between particle structure, function, and atherosclerosis have been made. We will review and provide clinical and epidemiological context to these recent advances. RECENT FINDINGS:Several rec...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0000000000000571
更新日期:2019-02-01 00:00:00
abstract:PURPOSE OF REVIEW:The purpose is to evaluate recent findings concerning dietary fats and the risk of coronary heart disease. Monounsaturated fatty acids are often regarded as healthy, and many have recommended their consumption instead of saturated fatty acids and polyunsaturated fatty acids. Support for the benefits o...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-200302000-00008
更新日期:2003-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Studies have shown the three-member paraoxonase (PON) multigene family to be involved in the development of a large variety of diseases with an inflammatory component. Environmental factors such as lifestyle-related factors differ widely between populations and it is important to consider that their i...
journal_title:Current opinion in lipidology
pub_type: 杂志文章
doi:10.1097/MOL.0000000000000687
更新日期:2020-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Chronic consumption of fructose and fructose-containing sugars leads to dyslipidemia. Apolipoprotein (apo) CIII is strongly associated with elevated levels of triglycerides and cardiovascular disease risk. We reviewed the effects of fructose consumption on apoCIII levels and the role of apoCIII in fru...
journal_title:Current opinion in lipidology
pub_type: 杂志文章
doi:10.1097/MOL.0000000000000653
更新日期:2020-02-01 00:00:00
abstract::Familial combined hyperlipidaemia is the most common inherited hyperlipidaemia and is found in up to 10% of patients with premature myocardial infarction. The genetic and metabolic bases of the disorder have not yet been defined. This review discusses the important advances in the past year in our understanding of the...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-199806000-00002
更新日期:1998-06-01 00:00:00
abstract:PURPOSE OF REVIEW:A healthy diet should be rich in vegetables and fruits, whole-grain, high-fiber foods, and fish and should contain a small amount of saturated and trans fats. In addition to these recommendations, some food ingredients such as plant sterol/stanol soy protein and isoflavones may help reduce cholesterol...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0b013e328340b8e7
更新日期:2011-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Dyslipidaemias are a major risk factor for cardiovascular disease (CVD); in particular, high levels of low-density lipoprotein cholesterol (LDL-C) have been associated to a higher cardiovascular risk. Reducing LDL-C levels decreases the risk of coronary heart disease (CHD), and the greater the LDL-C r...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0000000000000459
更新日期:2017-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The systematic analysis of the major candidate genes in autosomal dominant hypercholesterolemia (ADH) and the use of next-generation sequencing (NGS) technology have made possible the discovery of several rare gene variants whose pathogenic effect in most cases remains poorly defined. RECENT FINDINGS...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0000000000000414
更新日期:2017-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Peroxisome proliferator-activated receptors alpha, beta/delta and gamma are members of the nuclear receptor superfamily. They mediate the effects of fatty acids and their derivatives at the transcriptional level, and are considered to be lipid sensors that participate in the regulation of energy homeo...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-200304000-00003
更新日期:2003-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Lowering LDL cholesterol (LDL-C) reduces vascular risk. Current guidelines recommend initiating statin therapy in patients with a yearly coronary heart disease risk of around 1.5-2%, and most clinicians prescribe standard statin regimens (e.g. 40 mg simvastatin daily). However, there is some uncertain...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0b013e3283556c1b
更新日期:2012-08-01 00:00:00
abstract:PURPOSE OF REVIEW:The endoplasmic reticulum (ER) maintains cellular metabolic homeostasis by coordinating protein synthesis, secretion activities, lipid biosynthesis and calcium (Ca²⁺) storage. In this review, we will discuss how altered ER homeostasis contributes to dysregulation of hepatic lipid metabolism and contri...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0000000000000056
更新日期:2014-04-01 00:00:00
abstract:PURPOSE OF REVIEW:The antioxidant activity of high-density lipoprotein is largely due to the paraoxonase 1 located on it. Experiments with transgenic paraoxonase 1 knock-out mice indicate the potential for this enzyme to protect against atherogenesis. This effect of high-density lipoprotein in decreasing low-density li...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-200208000-00002
更新日期:2002-08-01 00:00:00
abstract:PURPOSE OF REVIEW:In recent years, many of the concerns surrounding the glycemic index have been addressed by methodological studies and clinical trials comparing diets carefully matched for other nutrients. These findings are reviewed together with new observational evidence for the role of the dietary glycemic index ...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0b013e32834ec705
更新日期:2012-02-01 00:00:00
abstract:PURPOSE OF REVIEW:This review focuses on proof-of-principle experiments providing validation of new targets for the development of RNA interference-based therapeutics for dyslipidemia. RECENT FINDINGS:Over the past few years, RNA interference has become an accepted approach to manipulate gene expression in mammalian s...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0b013e3282ff861e
更新日期:2008-06-01 00:00:00
abstract:PURPOSE OF REVIEW:The interest for the human HDL system was recently revived by the identification of the ABCA1 as a critical component in the formation and maintenance of plasma HDL levels. The present review focuses on recent progress in our understanding of the basic mechanisms underlying HDL biogenesis pathways. R...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/01.mol.0000226117.43178.7c
更新日期:2006-06-01 00:00:00
abstract::Rather than a link in a causal chain leading to hypertension, insulin resistance and resultant hyperinsulinemia may be 'spokes on a wheel', with central or visceral obesity as the postulated hub of the wheel. Hypertension, hypertriglyceridemia and high density lipoprotein cholesterol are depicted as other spokes. Newl...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-199608000-00011
更新日期:1996-08-01 00:00:00
abstract:PURPOSE OF REVIEW:The article reviews the challenges facing cardiovascular disease (CVD) guidelines committees. RECENT FINDINGS:Clinical trials in high-risk populations have shown additional CVD event reduction with ezetimibe and proprotein convertase subtilisin-kexin-9 inhibitors. These trials recruit middle-aged sec...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0000000000000453
更新日期:2017-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The aim of this review is to present the latest findings on the role of the circadian clock in the control of metabolism, and the therapeutic potential of chronotherapy to regulate energy homeostasis in humans. RECENT FINDINGS:We summarized the recent advances related to circadian clock regulation of...
journal_title:Current opinion in lipidology
pub_type: 杂志文章
doi:10.1097/MOL.0000000000000722
更新日期:2021-02-01 00:00:00
abstract:PURPOSE OF REVIEW:It is well recognized that adipose tissue in obesity is characterized by macrophage accumulation and local inflammation. This review summarizes current evidence regarding dietary cholesterol on adipose tissue macrophage accrual, systemic inflammation and its potential link to atherosclerosis. RECENT ...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/mol.0b013e32831bef8b
更新日期:2009-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Familial hypercholesterolemia is associated with a high lifetime risk of atherosclerotic cardiovascular disease (ASCVD). However, this risk is variable. This review evaluates recent evidence related to ASCVD risk stratification in familial hypercholesterolemia considering aspects of phenotype and geno...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0000000000000391
更新日期:2017-04-01 00:00:00
abstract::New insights into the endothelium as a dynamic, interactive organ have generated increased interest in endothelial cell transcriptional regulation. Peroxisomal proliferator-activated receptors (PPARs), as ligand-activated nuclear receptors expressed in endothelial cells, represent one important pathway that likely inf...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-200110000-00006
更新日期:2001-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Regulation of cholesterol homeostasis is a complex interplay of a multitude of metabolic pathways situated in different organs. The liver plays a central role and has received most attention of the research community. In this review, we discuss recent progress in the understanding of the emerging role...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0b013e3283395e45
更新日期:2010-06-01 00:00:00
abstract::The VLDL receptor (VLDLR) is a member of the LDL receptor family. The VLDLR was hypothesized to mediate fatty acid entry into peripheral tissues, on the basis of its expression in tissues that are active in fatty acid metabolism and its capacity to bind apolipoprotein-E-rich VLDL in vitro. This hypothesis initially pr...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-200106000-00006
更新日期:2001-06-01 00:00:00
abstract::Most of the LDL receptor family members recognize apolipoprotein E. The structures of the VLDL receptor, and recently identified apolipoprotein E receptor 2, closely resemble the LDL receptor. Recent studies have demonstrated that the VLDL receptor is responsible for the reproduction of premammalian species by mediati...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-199610000-00007
更新日期:1996-10-01 00:00:00
abstract:PURPOSE OF REVIEW:This review examines recent evidence proposing that lipids and lipoproteins can act as nuclear factors regulating chromatin structure. These novel data broaden our understanding of the mechanisms by which lipoproteins can affect basic biological phenomena such as transcription, genome stability, and c...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/01.mol.0000180165.70077.ee
更新日期:2005-10-01 00:00:00
abstract:PURPOSE OF REVIEW:This review addresses a syndrome of dyslipidemia and lipodystrophy that has emerged in HIV-infected patients receiving highly active antiretroviral therapy (HAART). The term 'HIV/HAART associated dyslipidemic lipodystrophy (HADL)' describes this syndrome. Although HAART increases patient survival rate...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/00041433-200402000-00011
更新日期:2004-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Fat accumulation in the liver is strongly associated with metabolic dysfunction. Regular exercise improves many cardiometabolic risks factors; however, its effect on intrahepatic triglyceride (IHTG) content remains elusive. This article summarizes available data regarding the effects of exercise on IH...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0b013e32833ea912
更新日期:2010-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Current data suggest that proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors may affect many metabolic pathways beyond lowering LDL cholesterol. The aim of the present manuscript is to present these so-called pleiotropic effects of PCSK9 inhibitors. RECENT FINDINGS:PCSK9 may affect the ...
journal_title:Current opinion in lipidology
pub_type: 杂志文章,评审
doi:10.1097/MOL.0000000000000523
更新日期:2018-08-01 00:00:00