Pub Date : 2024-04-01Epub Date: 2024-01-31DOI: 10.1097/MOL.0000000000000925
Yiyi Zhang, Sarah D de Ferranti, Andrew E Moran
Purpose of review: Despite familial hypercholesterolemia (FH) being the most common genetic cause of cardiovascular disease (CVD), genetic testing is rarely utilized in the US. This review summarizes what is known about the clinical utility of genetic testing and its role in the diagnosis and screening of FH.
Recent findings: The presence of an FH-causative variant is associated with a substantially higher risk of CVD, even when low-density lipoprotein cholesterol (LDL-C) levels are only modestly elevated. Genetic testing can facilitate the identification of FH cases who may be missed by clinical diagnostic criteria, improve risk stratification beyond LDL-C and family history, guide treatment decisions, and improve treatment initiation and adherence. Genetic testing can be incorporated into FH screening and diagnosis algorithms, including cascade, targeted, and universal screening. Integrating genetic testing into cascade screening can enhance the effectiveness of the process. Several models of universal FH screening with coordinated genetic and lipid testing are feasible and effective.
Summary: More systematic integration of genetic testing into FH diagnosis and screening can significantly reduce the burden of this condition through early detection and treatment. Further pragmatic implementation studies are needed to determine how to more effectively and affordably integrate genetic testing into clinical lipid screening programs.
{"title":"Genetic testing for familial hypercholesterolemia.","authors":"Yiyi Zhang, Sarah D de Ferranti, Andrew E Moran","doi":"10.1097/MOL.0000000000000925","DOIUrl":"10.1097/MOL.0000000000000925","url":null,"abstract":"<p><strong>Purpose of review: </strong>Despite familial hypercholesterolemia (FH) being the most common genetic cause of cardiovascular disease (CVD), genetic testing is rarely utilized in the US. This review summarizes what is known about the clinical utility of genetic testing and its role in the diagnosis and screening of FH.</p><p><strong>Recent findings: </strong>The presence of an FH-causative variant is associated with a substantially higher risk of CVD, even when low-density lipoprotein cholesterol (LDL-C) levels are only modestly elevated. Genetic testing can facilitate the identification of FH cases who may be missed by clinical diagnostic criteria, improve risk stratification beyond LDL-C and family history, guide treatment decisions, and improve treatment initiation and adherence. Genetic testing can be incorporated into FH screening and diagnosis algorithms, including cascade, targeted, and universal screening. Integrating genetic testing into cascade screening can enhance the effectiveness of the process. Several models of universal FH screening with coordinated genetic and lipid testing are feasible and effective.</p><p><strong>Summary: </strong>More systematic integration of genetic testing into FH diagnosis and screening can significantly reduce the burden of this condition through early detection and treatment. Further pragmatic implementation studies are needed to determine how to more effectively and affordably integrate genetic testing into clinical lipid screening programs.</p>","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"93-100"},"PeriodicalIF":4.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10932851/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139650444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-04-01Epub Date: 2024-01-17DOI: 10.1097/MOL.0000000000000917
Ileana Hernandez-Resendiz, Ralph Burkhardt
Purpose of review: Human genetics studies have sparked great interest in the pseudokinase Tribbles homolog 1, as variant at the TRIB1 gene locus were robustly linked to several cardiometabolic traits, including plasma lipids and coronary artery disease. In this review, we summarize recent findings from mouse models that investigated the function of hepatic and adipocyte Trib1 in lipid metabolism and its role in atherosclerosis.
Recent findings: Studies in atherosclerosis prone low-density lipoprotein (LDL)-receptor knockout mice suggested that systemic Trib1 -deficiency promotes atherosclerotic lesion formation through the modulation of plasma lipids and inflammation. Further, investigations in mice with hepatocyte specific deletion of Trib1 identified a novel role in the catabolism of apoB-containing lipoproteins via regulation of the LDL-receptor. Moreover, recent studies on Trib1 in adipocytes uncovered critical functions in adipose tissue biology, including the regulation of plasma lipid and adiponectin levels and the response to β3-adrenergic receptor activation.
Summary: Functional studies in mice have expanded our understanding of how Trib1 contributes to various aspects of cardiometabolic diseases. They support the notion that Trib1 exerts tissue-specific effects, which can result in opposing effects on cardiometabolic traits. Additional studies are required to fully elucidate the molecular mechanisms underlying the cellular and systemic effects of Trib1 .
{"title":"Novel functions of Tribbles-homolog 1 in liver, adipocytes and atherosclerosis.","authors":"Ileana Hernandez-Resendiz, Ralph Burkhardt","doi":"10.1097/MOL.0000000000000917","DOIUrl":"10.1097/MOL.0000000000000917","url":null,"abstract":"<p><strong>Purpose of review: </strong>Human genetics studies have sparked great interest in the pseudokinase Tribbles homolog 1, as variant at the TRIB1 gene locus were robustly linked to several cardiometabolic traits, including plasma lipids and coronary artery disease. In this review, we summarize recent findings from mouse models that investigated the function of hepatic and adipocyte Trib1 in lipid metabolism and its role in atherosclerosis.</p><p><strong>Recent findings: </strong>Studies in atherosclerosis prone low-density lipoprotein (LDL)-receptor knockout mice suggested that systemic Trib1 -deficiency promotes atherosclerotic lesion formation through the modulation of plasma lipids and inflammation. Further, investigations in mice with hepatocyte specific deletion of Trib1 identified a novel role in the catabolism of apoB-containing lipoproteins via regulation of the LDL-receptor. Moreover, recent studies on Trib1 in adipocytes uncovered critical functions in adipose tissue biology, including the regulation of plasma lipid and adiponectin levels and the response to β3-adrenergic receptor activation.</p><p><strong>Summary: </strong>Functional studies in mice have expanded our understanding of how Trib1 contributes to various aspects of cardiometabolic diseases. They support the notion that Trib1 exerts tissue-specific effects, which can result in opposing effects on cardiometabolic traits. Additional studies are required to fully elucidate the molecular mechanisms underlying the cellular and systemic effects of Trib1 .</p>","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"51-57"},"PeriodicalIF":4.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139489957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-10-03DOI: 10.1097/MOL.0000000000000906
Marta Trius-Soler, Kenneth J Mukamal, Marta Guasch-Ferré
Purpose of review: Cardiovascular diseases (CVD) pose a significant public health challenge, contributing to 422 million disability-adjusted life years in 2021. The role of high-density lipoproteins (HDL) and alcohol consumption, one of their major modifiable determinants, remains controversial. The objective of this review is to provide a comprehensive narrative overview of HDL functionality and its predictive value for CVD in relation to patterns of alcohol consumption.
Recent findings: HDL phenotypes beyond HDL-cholesterol (HDL-c) such as distribution of HDL subspecies, HDL particle abundance, and reverse cholesterol transport capacity are promising indicators of atherosclerotic CVD risk. Low-to-moderate alcohol consumption seems to improve HDL functionality and reduce the incidence of CVD among primarily middle-aged men and postmenopausal women. Advancements in our understanding of HDL biogenesis, structure, and function hold promise for improving HDL-related measures and their predictive value for cardiovascular health.
Summary: Low-to-moderate alcohol consumption appears to not only increase HDL-c concentration found in the HDL fraction of plasma but also enhance HDL functionality, providing insights into the underlying mechanisms linking alcohol exposure and cardiovascular health benefits. However, rigorous, well designed intervention trials of alcohol consumption on hard cardiovascular outcomes are needed to identify robust causal associations of HDL phenotypes and alcohol consumption with cardiovascular risk.
{"title":"High-density lipoprotein functionality, cardiovascular health, and patterns of alcohol consumption: new insights and future perspectives.","authors":"Marta Trius-Soler, Kenneth J Mukamal, Marta Guasch-Ferré","doi":"10.1097/MOL.0000000000000906","DOIUrl":"10.1097/MOL.0000000000000906","url":null,"abstract":"<p><strong>Purpose of review: </strong>Cardiovascular diseases (CVD) pose a significant public health challenge, contributing to 422 million disability-adjusted life years in 2021. The role of high-density lipoproteins (HDL) and alcohol consumption, one of their major modifiable determinants, remains controversial. The objective of this review is to provide a comprehensive narrative overview of HDL functionality and its predictive value for CVD in relation to patterns of alcohol consumption.</p><p><strong>Recent findings: </strong>HDL phenotypes beyond HDL-cholesterol (HDL-c) such as distribution of HDL subspecies, HDL particle abundance, and reverse cholesterol transport capacity are promising indicators of atherosclerotic CVD risk. Low-to-moderate alcohol consumption seems to improve HDL functionality and reduce the incidence of CVD among primarily middle-aged men and postmenopausal women. Advancements in our understanding of HDL biogenesis, structure, and function hold promise for improving HDL-related measures and their predictive value for cardiovascular health.</p><p><strong>Summary: </strong>Low-to-moderate alcohol consumption appears to not only increase HDL-c concentration found in the HDL fraction of plasma but also enhance HDL functionality, providing insights into the underlying mechanisms linking alcohol exposure and cardiovascular health benefits. However, rigorous, well designed intervention trials of alcohol consumption on hard cardiovascular outcomes are needed to identify robust causal associations of HDL phenotypes and alcohol consumption with cardiovascular risk.</p>","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"25-32"},"PeriodicalIF":4.4,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41106770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-11-01DOI: 10.1097/MOL.0000000000000908
Gabrielle Roy, Jean-Philippe Drouin-Chartier
Purpose of review: This review aims to provide an in-depth perspective on the importance of diet for cardiovascular disease (CVD) prevention in heterozygous familial hypercholesterolemia (HeFH).
Recent findings: Even though data on diet and CVD prevention in HeFH are limited, the currently available evidence supports its cholesterol-lowering effect and its favorable association with CVD risk on the long-term. However, qualitative evidence from individuals with HeFH suggests that there is a common perception that diet is useless compared to medication, and this misconception serves as a barrier to healthy eating. On the other hand, evidence also suggests that individuals with HeFH are at higher risk of eating disorders compared with unaffected individuals. Family history of premature death and the chronic nature of the disease would be in cause.
Summary: Emphasizing a healthy diet needs to remain at the foundation of CVD prevention in HeFH. Evidence are limited but supportive of the cholesterol-lowering and cardioprotective potential effects of diet. Engaging in conversations about healthy dieting with individuals in HeFH is likely to help prevent misconceptions about diet. Additionally, it could help reduce the risk of eating disorders, which, altogether, is likely to improve overall CVD prevention.
{"title":"Cardiovascular disease prevention in heterozygous familial hypercholesterolemia: how important is a healthy diet in the era of long-lasting cholesterol-lowering drug therapies?","authors":"Gabrielle Roy, Jean-Philippe Drouin-Chartier","doi":"10.1097/MOL.0000000000000908","DOIUrl":"10.1097/MOL.0000000000000908","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review aims to provide an in-depth perspective on the importance of diet for cardiovascular disease (CVD) prevention in heterozygous familial hypercholesterolemia (HeFH).</p><p><strong>Recent findings: </strong>Even though data on diet and CVD prevention in HeFH are limited, the currently available evidence supports its cholesterol-lowering effect and its favorable association with CVD risk on the long-term. However, qualitative evidence from individuals with HeFH suggests that there is a common perception that diet is useless compared to medication, and this misconception serves as a barrier to healthy eating. On the other hand, evidence also suggests that individuals with HeFH are at higher risk of eating disorders compared with unaffected individuals. Family history of premature death and the chronic nature of the disease would be in cause.</p><p><strong>Summary: </strong>Emphasizing a healthy diet needs to remain at the foundation of CVD prevention in HeFH. Evidence are limited but supportive of the cholesterol-lowering and cardioprotective potential effects of diet. Engaging in conversations about healthy dieting with individuals in HeFH is likely to help prevent misconceptions about diet. Additionally, it could help reduce the risk of eating disorders, which, altogether, is likely to improve overall CVD prevention.</p>","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"1-6"},"PeriodicalIF":4.4,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71421636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Purpose of review: The aim of this review was to provide an overview of the role of novel lipid biomarkers from the circulating lipidome in inflammatory processes and the impact that dietary patterns may have on the lipidome.
Recent findings: Inflammation is a process that underlies many acute and chronic diseases, contributing to their development and severity. Finding novel molecules which serve as biomarkers and which are involved in inflammation is very useful, since they offer us both preventive or therapeutic targets and reveal mechanisms of action. Recently, several studies have found circulating lipid molecules that are implicated in inflammatory processes of different diseases, such as cardiovascular diseases, type 2 diabetes, COVID-19 or other respiratory infectious diseases. As such, ceramides, triacylglicerides or lysophosphatidylcholines have been associated with inflammation in a different manner depending on the stage of inflammation. The study of dietary patterns, especially healthy ones as the Mediterranean or the Nordic diets, has shown the impact that dietary habits may have on the lipidomic profile of individuals.
Conclusions: Healthy dietary patterns have been suggested to exert beneficial effects in the circulating lipid profile. Studying the circulating lipidome could help to find new biomarkers of underlying inflammation, especially in cases of chronic low-grade inflammatory diseases in which it is more difficult to detect.
{"title":"Lipidome and inflammation interplay: the role of diet in this relationship.","authors":"Anacristina Rovayo, Estefanía Toledo, Cristina Razquin","doi":"10.1097/MOL.0000000000000909","DOIUrl":"10.1097/MOL.0000000000000909","url":null,"abstract":"<p><strong>Purpose of review: </strong>The aim of this review was to provide an overview of the role of novel lipid biomarkers from the circulating lipidome in inflammatory processes and the impact that dietary patterns may have on the lipidome.</p><p><strong>Recent findings: </strong>Inflammation is a process that underlies many acute and chronic diseases, contributing to their development and severity. Finding novel molecules which serve as biomarkers and which are involved in inflammation is very useful, since they offer us both preventive or therapeutic targets and reveal mechanisms of action. Recently, several studies have found circulating lipid molecules that are implicated in inflammatory processes of different diseases, such as cardiovascular diseases, type 2 diabetes, COVID-19 or other respiratory infectious diseases. As such, ceramides, triacylglicerides or lysophosphatidylcholines have been associated with inflammation in a different manner depending on the stage of inflammation. The study of dietary patterns, especially healthy ones as the Mediterranean or the Nordic diets, has shown the impact that dietary habits may have on the lipidomic profile of individuals.</p><p><strong>Conclusions: </strong>Healthy dietary patterns have been suggested to exert beneficial effects in the circulating lipid profile. Studying the circulating lipidome could help to find new biomarkers of underlying inflammation, especially in cases of chronic low-grade inflammatory diseases in which it is more difficult to detect.</p>","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"20-24"},"PeriodicalIF":4.4,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71520784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-11-29DOI: 10.1097/MOL.0000000000000900
Hamza Mostafa, Laia Gutierrez-Tordera, Javier Mateu-Fabregat, Christopher Papandreou, Mònica Bulló
Purpose of review: The review aims to explore the recent evidence on the associations between different dietary fat intake and cognitive function, and to understand the role of telomere length in this relationship.
Recent findings: Clinical and preclinical studies included in this review suggest that dietary fat intake is associated with cognitive function and telomere length. High intake of saturated fats and trans fats, commonly found in ultra-processed foods, appears to have negative effects on cognitive function and telomere length, while other dietary fats, such as omega-3 polyunsaturated fatty acids and monounsaturated fatty acids are associated with improved cognitive performance and reduced telomere attrition. Controversial results related to omega-6 polyunsaturated fatty acids intake and its impact on cognitive function were found. Dietary fats may affect telomere length and cognition through oxidative stress, inflammation, and insulin resistance.
Summary: The current review illustrated the relationship between dietary fat and cognitive function by focusing on the role of telomere length as a potential intermediator. More future studies are required, however, in order to develop targeted interventions aimed at preserving cognitive well-being throughout life.
{"title":"Dietary fat, telomere length and cognitive function: unravelling the complex relations.","authors":"Hamza Mostafa, Laia Gutierrez-Tordera, Javier Mateu-Fabregat, Christopher Papandreou, Mònica Bulló","doi":"10.1097/MOL.0000000000000900","DOIUrl":"10.1097/MOL.0000000000000900","url":null,"abstract":"<p><strong>Purpose of review: </strong>The review aims to explore the recent evidence on the associations between different dietary fat intake and cognitive function, and to understand the role of telomere length in this relationship.</p><p><strong>Recent findings: </strong>Clinical and preclinical studies included in this review suggest that dietary fat intake is associated with cognitive function and telomere length. High intake of saturated fats and trans fats, commonly found in ultra-processed foods, appears to have negative effects on cognitive function and telomere length, while other dietary fats, such as omega-3 polyunsaturated fatty acids and monounsaturated fatty acids are associated with improved cognitive performance and reduced telomere attrition. Controversial results related to omega-6 polyunsaturated fatty acids intake and its impact on cognitive function were found. Dietary fats may affect telomere length and cognition through oxidative stress, inflammation, and insulin resistance.</p><p><strong>Summary: </strong>The current review illustrated the relationship between dietary fat and cognitive function by focusing on the role of telomere length as a potential intermediator. More future studies are required, however, in order to develop targeted interventions aimed at preserving cognitive well-being throughout life.</p>","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"33-40"},"PeriodicalIF":4.4,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138451170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-11-20DOI: 10.1097/MOL.0000000000000914
Sara Hallum Søndergaard, Mads Kamper-Jørgensen
Purpose of review: To provide an updated review of scientific literature concerning associations between pregnancy and cardiovascular health among women, and to discuss a possible impact of microchimerism on the association.
Recent findings: In most studies, pregnancy and childbirth is associated with increased risk of cardiovascular disease in women. Some ascribe the association mainly to lifestyle, whereas others suggest that pregnancy itself negatively affects women's cardiovascular health. Pregnancy is a natural source of microchimerism, which in turn markedly affects female health. The only study published in the area surprisingly shows that among middle-aged women, male-origin microchimerism (MOM) is associated with half the risk of developing ischemic heart disease (IHD). No similar association is found between MOM and ischemic stroke.
Summary: The sparse evidence published suggests reduced risk of developing IHD among MOM-positive women. Despite the association being biologically plausible, replication of the findings is warranted to support that this is not a chance finding.
{"title":"Pregnancy, cardiovascular health, and microchimerism.","authors":"Sara Hallum Søndergaard, Mads Kamper-Jørgensen","doi":"10.1097/MOL.0000000000000914","DOIUrl":"10.1097/MOL.0000000000000914","url":null,"abstract":"<p><strong>Purpose of review: </strong>To provide an updated review of scientific literature concerning associations between pregnancy and cardiovascular health among women, and to discuss a possible impact of microchimerism on the association.</p><p><strong>Recent findings: </strong>In most studies, pregnancy and childbirth is associated with increased risk of cardiovascular disease in women. Some ascribe the association mainly to lifestyle, whereas others suggest that pregnancy itself negatively affects women's cardiovascular health. Pregnancy is a natural source of microchimerism, which in turn markedly affects female health. The only study published in the area surprisingly shows that among middle-aged women, male-origin microchimerism (MOM) is associated with half the risk of developing ischemic heart disease (IHD). No similar association is found between MOM and ischemic stroke.</p><p><strong>Summary: </strong>The sparse evidence published suggests reduced risk of developing IHD among MOM-positive women. Despite the association being biologically plausible, replication of the findings is warranted to support that this is not a chance finding.</p>","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"7-13"},"PeriodicalIF":4.4,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138046554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01Epub Date: 2023-10-06DOI: 10.1097/MOL.0000000000000907
Steffen Ullitz Thorsen, Kristine Frøsig Moseholm, Frederik Banch Clausen
Purpose of review: The aim of this review is to explore a possible link between cell-free DNA (cfDNA) and cardiovascular disease (CVD), which may hold valuable potential for future diagnostics.
Recent findings: cfDNA has become topic of high interest across several medical fields. cfDNA is used as a diagnostic biomarker in cancer, prenatal care, and transplantation. In addition, cfDNA may play an unrecognized role in biological processes that are involved in or underlying various disease states, for example, inflammation. Elevated levels of cfDNA are associated with various elements of CVD, cardio-metabolic risk factors, and autoimmune diseases. Mitochondrial cfDNA and neutrophil extracellular traps may play distinct roles. Total circulating cfDNA may reflect the unspecific accumulation of stressors and the organism's susceptibility and resilience to such stressors. As such, cfDNA, in a stressful situation, may provide predictive value for future development of CVD. We suggest exploring such possibility through a large-scale prospective cohort study of pregnant women.
Summary: There is no doubt that cfDNA is a valuable biomarker. For CVD, its potential is indicated but less explored. New studies may identify cfDNA as a valuable circulating cardiovascular risk marker to help improve risk stratification.
{"title":"Circulating cell-free DNA and its association with cardiovascular disease: what we know and future perspectives.","authors":"Steffen Ullitz Thorsen, Kristine Frøsig Moseholm, Frederik Banch Clausen","doi":"10.1097/MOL.0000000000000907","DOIUrl":"10.1097/MOL.0000000000000907","url":null,"abstract":"<p><strong>Purpose of review: </strong>The aim of this review is to explore a possible link between cell-free DNA (cfDNA) and cardiovascular disease (CVD), which may hold valuable potential for future diagnostics.</p><p><strong>Recent findings: </strong>cfDNA has become topic of high interest across several medical fields. cfDNA is used as a diagnostic biomarker in cancer, prenatal care, and transplantation. In addition, cfDNA may play an unrecognized role in biological processes that are involved in or underlying various disease states, for example, inflammation. Elevated levels of cfDNA are associated with various elements of CVD, cardio-metabolic risk factors, and autoimmune diseases. Mitochondrial cfDNA and neutrophil extracellular traps may play distinct roles. Total circulating cfDNA may reflect the unspecific accumulation of stressors and the organism's susceptibility and resilience to such stressors. As such, cfDNA, in a stressful situation, may provide predictive value for future development of CVD. We suggest exploring such possibility through a large-scale prospective cohort study of pregnant women.</p><p><strong>Summary: </strong>There is no doubt that cfDNA is a valuable biomarker. For CVD, its potential is indicated but less explored. New studies may identify cfDNA as a valuable circulating cardiovascular risk marker to help improve risk stratification.</p>","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":" ","pages":"14-19"},"PeriodicalIF":4.4,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41116278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-21DOI: 10.1097/mol.0000000000000916
Shehan D Perera, Robert A Hegele
While biallelic rare APOA5 pathogenic loss-of-function (LOF) variants cause familial chylomicronemia syndrome, heterozygosity for such variants is associated with highly variable triglyceride phenotypes ranging from normal to severe hypertriglyceridemia, often in the same individual at different time points. Here we provide an updated overview of rare APOA5 variants in hypertriglyceridemia.
{"title":"Genetic variation in apolipoprotein A-V in hypertriglyceridemia.","authors":"Shehan D Perera, Robert A Hegele","doi":"10.1097/mol.0000000000000916","DOIUrl":"https://doi.org/10.1097/mol.0000000000000916","url":null,"abstract":"While biallelic rare APOA5 pathogenic loss-of-function (LOF) variants cause familial chylomicronemia syndrome, heterozygosity for such variants is associated with highly variable triglyceride phenotypes ranging from normal to severe hypertriglyceridemia, often in the same individual at different time points. Here we provide an updated overview of rare APOA5 variants in hypertriglyceridemia.","PeriodicalId":11109,"journal":{"name":"Current opinion in lipidology","volume":"73 1","pages":""},"PeriodicalIF":4.4,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138824688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}