Epigenomic biomarkers of cardiometabolic disease: How far are we from daily practice?

Abstract Determining whether someone has cardiometabolic disease (CMD), especially in the early stages, can be complicated. Risk stratification ordinarily depends on an extended process relying on medical history that typically considers blood pressure, cholesterol, smoking and diabetes status. Phys...

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Main Authors: Ram Abou Zaki, Ronald C. W. Ma, Assam El-Osta
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Cardiovascular Diabetology
Online Access:https://doi.org/10.1186/s12933-024-02497-4
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author Ram Abou Zaki
Ronald C. W. Ma
Assam El-Osta
author_facet Ram Abou Zaki
Ronald C. W. Ma
Assam El-Osta
author_sort Ram Abou Zaki
collection DOAJ
description Abstract Determining whether someone has cardiometabolic disease (CMD), especially in the early stages, can be complicated. Risk stratification ordinarily depends on an extended process relying on medical history that typically considers blood pressure, cholesterol, smoking and diabetes status. Physicians have long relied on these key patient characteristics to assess CMD risk. However, these widely used clinical assessments are often identified later in life and by definition, in those individuals with progressed disease. This is partly because the onset of CMD naturally occurs in adulthood, however, the underlying processes can occur much earlier in life, even in the absence of obvious symptoms. For one thing, the pathways towards pathology may exist for years before symptom onset. Thus, among other things, there are opportunities to provide doctors with better insights into future disease prediction especially in younger adults with diabetes. The rapid rise in CMD together with the increased rates of obesity and diabetes in this population only emphasises the importance of predictive molecular biomarkers. One notable aspect is that traditional risk scores, such as those based on cholesterol measurements, are frequently found to be within normal ranges in younger populations. At the same time, given the significant overlap in risk factors for cardiovascular disease (CVD) and diabetes, the unmet clinical need is for early biomarkers of CMD that may help improve risk assessment in younger adults. This editorial highlights advances in the use of polygenic risk scores and emerging utility of genetic biomarkers to define intermediate CMD phenotypes discussing new classification criteria involving DNA methylation of genes to improve risk assessment. CMD is the number one cause of mortality and accounts for 31% of all global deaths. CMD is also multifactorial, comprising cardiovascular disease (CVD) and diabetes that have significant overlap in risk factors and disease biology. Diabetes is arguably the strongest risk factor for CVD development. Accounting for almost 90% of diabetes cases worldwide, type 2 diabetes (T2D) affects about 527 million people. The global economic burden is estimated at 1.3 trillion USD annually and is close to 1.8% of global GDP [1]. Despite the progress in preventive and therapeutic measures of CVD, the increasing CMD rates only underscore the important need of molecular biomarkers for early detection [2]. Determining whether someone has CMD usually involves an extended diagnostic process that has become essential for risk stratification and disease prevention [3]. While the onset of CMD typically occurs in adulthood, disease development commences much earlier, and this has scientists questioning whether molecular biomarkers could improve current prognostic risk scores. Predicting which people with T2D are most likely to develop CVD remains a significant challenge despite the recent advances in genetic mapping. Graphical abstract
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spelling doaj-art-ddcd43869c1741d3bdaa544d5966fac02025-08-20T02:49:56ZengBMCCardiovascular Diabetology1475-28402024-11-012311510.1186/s12933-024-02497-4Epigenomic biomarkers of cardiometabolic disease: How far are we from daily practice?Ram Abou Zaki0Ronald C. W. Ma1Assam El-Osta2Epigenetics in Human Health and Disease Program, Baker Heart and Diabetes InstituteDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong (CUHK)Epigenetics in Human Health and Disease Program, Baker Heart and Diabetes InstituteAbstract Determining whether someone has cardiometabolic disease (CMD), especially in the early stages, can be complicated. Risk stratification ordinarily depends on an extended process relying on medical history that typically considers blood pressure, cholesterol, smoking and diabetes status. Physicians have long relied on these key patient characteristics to assess CMD risk. However, these widely used clinical assessments are often identified later in life and by definition, in those individuals with progressed disease. This is partly because the onset of CMD naturally occurs in adulthood, however, the underlying processes can occur much earlier in life, even in the absence of obvious symptoms. For one thing, the pathways towards pathology may exist for years before symptom onset. Thus, among other things, there are opportunities to provide doctors with better insights into future disease prediction especially in younger adults with diabetes. The rapid rise in CMD together with the increased rates of obesity and diabetes in this population only emphasises the importance of predictive molecular biomarkers. One notable aspect is that traditional risk scores, such as those based on cholesterol measurements, are frequently found to be within normal ranges in younger populations. At the same time, given the significant overlap in risk factors for cardiovascular disease (CVD) and diabetes, the unmet clinical need is for early biomarkers of CMD that may help improve risk assessment in younger adults. This editorial highlights advances in the use of polygenic risk scores and emerging utility of genetic biomarkers to define intermediate CMD phenotypes discussing new classification criteria involving DNA methylation of genes to improve risk assessment. CMD is the number one cause of mortality and accounts for 31% of all global deaths. CMD is also multifactorial, comprising cardiovascular disease (CVD) and diabetes that have significant overlap in risk factors and disease biology. Diabetes is arguably the strongest risk factor for CVD development. Accounting for almost 90% of diabetes cases worldwide, type 2 diabetes (T2D) affects about 527 million people. The global economic burden is estimated at 1.3 trillion USD annually and is close to 1.8% of global GDP [1]. Despite the progress in preventive and therapeutic measures of CVD, the increasing CMD rates only underscore the important need of molecular biomarkers for early detection [2]. Determining whether someone has CMD usually involves an extended diagnostic process that has become essential for risk stratification and disease prevention [3]. While the onset of CMD typically occurs in adulthood, disease development commences much earlier, and this has scientists questioning whether molecular biomarkers could improve current prognostic risk scores. Predicting which people with T2D are most likely to develop CVD remains a significant challenge despite the recent advances in genetic mapping. Graphical abstracthttps://doi.org/10.1186/s12933-024-02497-4
spellingShingle Ram Abou Zaki
Ronald C. W. Ma
Assam El-Osta
Epigenomic biomarkers of cardiometabolic disease: How far are we from daily practice?
Cardiovascular Diabetology
title Epigenomic biomarkers of cardiometabolic disease: How far are we from daily practice?
title_full Epigenomic biomarkers of cardiometabolic disease: How far are we from daily practice?
title_fullStr Epigenomic biomarkers of cardiometabolic disease: How far are we from daily practice?
title_full_unstemmed Epigenomic biomarkers of cardiometabolic disease: How far are we from daily practice?
title_short Epigenomic biomarkers of cardiometabolic disease: How far are we from daily practice?
title_sort epigenomic biomarkers of cardiometabolic disease how far are we from daily practice
url https://doi.org/10.1186/s12933-024-02497-4
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