
LINK . SPRINGER . COM {
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Title:
Rolle der Genetik in der Präzisionsmedizin der koronaren Herzkrankheit | Herz
Description:
Die koronare Herzkrankheit (KHK) entsteht multifaktoriell durch ein Zusammenspiel von Lebensstil‑, Umwelt- und genetischen Faktoren. Rauchen, Bluthochdruck, Hyperlipidämie, Adipositas und Diabetes mellitus sind modifizierbare Risikofaktoren der KHK. Zudem können sowohl seltene Mutationen als auch multiple, häufig vorkommende genetische Varianten eine KHK verursachen, wobei deren Erblichkeit etwa 50 % beträgt. Die genetische Diagnostik ermöglicht einerseits die frühzeitige Identifizierung betroffener Kinder und Erwachsener sowie andererseits, basierend auf dem stark erhöhten kardiovaskulären Risiko, den präventiven Therapiebeginn. Daneben haben in den letzten Jahren große Assoziationsstudien hunderte genomweit signifikante Varianten entdeckt, die in Summe das KHK-Risiko deutlich erhöhen. In der Bevölkerung bedingen die vielen, häufig vorkommenden Risikoallele im Zusammenspiel mit den modifizierbaren Risikofaktoren eine weit verbreitete genetische Disposition zur KHK. Ihre Bedeutung ergibt sich im Kontext einer integrativen Risikobewertung, wobei das genetische Zusatzrisiko mittels polygener Risikoscores (PRS) berechnet und mit dem klinisch ermittelten Risiko multipliziert werden kann. In der vorliegenden Übersichtsarbeit erörtern wir die diagnostischen Grundlagen der seltenen und häufigen genetischen Ursachen der KHK und deren Implikationen in der Präzisionsbehandlung der Krankheit.
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Keywords {🔍}
pubmed, article, google, scholar, risk, disease, cas, coronary, central, artery, familial, genetic, heart, hypercholesterolemia, children, cardiovascular, eur, schunkert, study, nat, genetics, cad, polygenic, sanin, genomewide, association, nature, genet, hypercholesterolaemia, cardiol, circulation, privacy, cookies, content, herz, koenig, chen, khk, genetische, access, myocardial, infarction, screening, res, med, score, analysis, information, publish, research,
Topics {✒️}
rolle der genetik slc22a3-lpal2-lpa gene cluster genome-wide polygenic scores month download article/chapter related subjects genome-wide association studies health care system ldl-receptor gene decreases den präventiven therapiebeginn carotid intima-media thickness article herz aims population-based screening ldl-cholesterol related european atherosclerosis society full article pdf overview article discusses polygenic risk scores additional genetic risk check access instant access coronary artery disease coronary artery disease polygenic score guideline-recommended prediction schunkert und widespread genetic predisposition modifiable risk factors privacy choices/manage cookies im druck deutsches herzzentrum münchen coronary heart disease chromosome 9p21 affects european economic area reduce cardiovascular risk diabetes mellitus genomewide association analysis heterozygous familial hypercholesterolemia die variants related atherosclerotic cardiovascular disease fatal cardiovascular disease predicting cardiovascular disease integrative risk assessment clinically determined risk long-term risk khk ten-year risk estimate 10-year risk consensus statement cross-sectional study
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headline:Rolle der Genetik in der Präzisionsmedizin der koronaren Herzkrankheit
description:Die koronare Herzkrankheit (KHK) entsteht multifaktoriell durch ein Zusammenspiel von Lebensstil‑, Umwelt- und genetischen Faktoren. Rauchen, Bluthochdruck, Hyperlipidämie, Adipositas und Diabetes mellitus sind modifizierbare Risikofaktoren der KHK. Zudem können sowohl seltene Mutationen als auch multiple, häufig vorkommende genetische Varianten eine KHK verursachen, wobei deren Erblichkeit etwa 50 % beträgt. Die genetische Diagnostik ermöglicht einerseits die frühzeitige Identifizierung betroffener Kinder und Erwachsener sowie andererseits, basierend auf dem stark erhöhten kardiovaskulären Risiko, den präventiven Therapiebeginn. Daneben haben in den letzten Jahren große Assoziationsstudien hunderte genomweit signifikante Varianten entdeckt, die in Summe das KHK-Risiko deutlich erhöhen. In der Bevölkerung bedingen die vielen, häufig vorkommenden Risikoallele im Zusammenspiel mit den modifizierbaren Risikofaktoren eine weit verbreitete genetische Disposition zur KHK. Ihre Bedeutung ergibt sich im Kontext einer integrativen Risikobewertung, wobei das genetische Zusatzrisiko mittels polygener Risikoscores (PRS) berechnet und mit dem klinisch ermittelten Risiko multipliziert werden kann. In der vorliegenden Übersichtsarbeit erörtern wir die diagnostischen Grundlagen der seltenen und häufigen genetischen Ursachen der KHK und deren Implikationen in der Präzisionsbehandlung der Krankheit.
datePublished:2025-02-28T00:00:00Z
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Genetik
Polygener Risikoscore
Familiäre Hypercholesterinämie
Screening
Coronary sclerosis
Genetics
Polygenic risk score
Familial hypercholesterolemia
Cardiology
Internal Medicine
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Genetik
Polygener Risikoscore
Familiäre Hypercholesterinämie
Screening
Coronary sclerosis
Genetics
Polygenic risk score
Familial hypercholesterolemia
Cardiology
Internal Medicine
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name:Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK) e. V. (German Center for Cardiovascular Research), Partner Site Munich Heart Alliance, München, Deutschland
name:Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Universitätsklinikum der Technischen Universität München, München, Deutschland
name:Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Universitätsklinikum der Technischen Universität München, München, Deutschland
name:Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK) e. V. (German Center for Cardiovascular Research), Partner Site Munich Heart Alliance, München, Deutschland
name:Klinik für Herz- und Kreislauferkrankungen, Deutsches Herzzentrum München, Universitätsklinikum der Technischen Universität München, München, Deutschland
name:Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK) e. V. (German Center for Cardiovascular Research), Partner Site Munich Heart Alliance, München, Deutschland
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