{"id":"ccb21df940b4","type":"article","url":"https://hartvaat.nl/2026/02/05/de-erfelijke-basis-van-coronairlijden-nejm-overzicht/","title":"De erfelijke basis van coronairlijden (NEJM-overzicht)","title_en":"The Inherited Basis of Coronary Artery Disease","category":"preventie","category_label":"Preventie","professions":["cardioloog","huisarts","internist"],"tags":["stabiel-coronairlijden"],"journal":"The New England journal of medicine","doi":"10.1056/NEJMra2405153","source_url":"https://doi.org/10.1056/NEJMra2405153","authors":["Heribert Schunkert","Pradeep Natarajan","Nilesh J Samani"],"significance":8,"published":"2026-02-05","source_date":"2026-02-05","image":"","kennis":["https://hartvaat.nl/kennis/lipiden/lpa-meten-wanneer-waarom/","https://hartvaat.nl/kennis/lipiden/familiaire-hypercholesterolemie/"],"congress":"","summary_en":"This NEJM review summarises how genetic research has reshaped the understanding, treatment, prevention and risk prediction of coronary artery disease. Monogenic causes occur in roughly 1 in 250 people and usually produce markedly elevated lipid levels. At the population level, hundreds of common small-effect variants together have even greater influence; combined into a polygenic risk score (PRS), risk in the top 5% is 3–5 times the average. The PRS can multiply the absolute risk from clinical scores. Questions about clinical value, cost-effectiveness and implementation remain.","created":"2026-07-03T10:32:17Z","updated":"2026-07-03T13:31:15Z","licence":"Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.","body_markdown":"Dit NEJM-overzicht vat samen hoe genetisch onderzoek het begrip, de behandeling, de preventie en de risicovoorspelling van coronairlijden heeft veranderd. Monogene oorzaken komen voor bij ongeveer 1 op 250 mensen en geven meestal sterk verhoogde lipidenwaarden. Op populatieniveau hebben honderden veelvoorkomende varianten met kleine effecten samen een nog grotere invloed; gebundeld in een polygene risicoscore (PRS) is het risico bij de hoogste 5% drie- tot vijfmaal het gemiddelde. De PRS kan het absolute risico uit klinische scores vermenigvuldigen. Vragen over klinische meerwaarde, kosteneffectiviteit en implementatie blijven openstaan.","abstract_original":"Investigations of the genetic basis of coronary artery disease have led to advances in mechanistic insights, therapeutics, prevention, and risk prediction. Indeed, most contemporary medicines for coronary artery disease target pathways that promote atherosclerosis due to underpinning genetic mechanisms. Monogenic causes of coronary artery disease occur in approximately 1 out of 250 people and mostly result in massively elevated lipid levels. At the population level, hundreds of common variants with small effect sizes have even greater influence. They can be combined in polygenic risk scores that depict genetic risk in a person relative to the average in the general population. The risk among persons in the highest 5% is 3 to 5 times that among persons with an average score; relative risk derived from the polygenic risk score can be used to multiply the absolute risk derived from a clinical risk score. Key questions remain regarding the clinical value, cost-effectiveness, and implementation strategies required to integrate coronary artery disease polygenic risk scores into clinical practice."}