{"id":"6dcd3b0bf6ea","type":"article","url":"https://hartvaat.nl/2025/10/20/gwas-verplaatst-endotheline-naar-vasculaire-gladde-spiercellen-en-bloeddrukregul/","title":"GWAS verplaatst endotheline naar vasculaire gladde spiercellen en bloeddrukregulatie","title_en":"GWAS moves endothelin directly to vascular smooth muscle and blood pressure regulation","category":"chronische nierziekte","category_label":"Nierziekte","professions":["internist"],"tags":["endothelineantagonisten"],"journal":"Kidney International","doi":"https://www.kidney-international.org/article/S0085-2538(25)00785-9/fulltext","source_url":"https://doi.org/https://www.kidney-international.org/article/S0085-2538(25)00785-9/fulltext","authors":["Friedrich C. Luft"],"significance":5,"published":"2025-10-20","source_date":"2025-10-20","image":"","kennis":[],"congress":"","summary_en":"This commentary discusses how genome-wide association studies have directly linked endothelin signalling in vascular smooth muscle cells to blood pressure regulation. GWAS findings illuminate mechanisms beyond classical Mendelian genetics in hypertension research.","created":"2026-07-03T10:25:43Z","updated":"2026-07-03T13:25:06Z","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":"Genoomwijde associatiestudies dienen een ander doel dan klassieke Mendeliaanse genetica. Dit commentaar bespreekt hoe GWAS endotheline direct verbindt met vasculaire gladde spiercellen en bloeddrukregulatie.","abstract_original":"Genome-wide association studies (GWASs) serve a different purpose, compared with conventional Mendelian genetics.1 They are more attuned to answering, “Where in the genome is it?”, rather than “What genetic mutation is it”? Moreover, the effects on the phenotype are much less than in a monogenic disease.2 Searches for mechanisms related to hypertension (the greatest renocardiovascular risk factor) are a striking example. Mangum et al. recently addressed a GWAS finding in the lysine demethylase 6A locus that exerted a, less than earth-shattering, 0.47–mm Hg effect on blood pressure."}