{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:08:00Z","timestamp":1790420880574,"version":"4.1.0"},"reference-count":55,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2018,5,21]],"date-time":"2018-05-21T00:00:00Z","timestamp":1526860800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fibromuscular Dysplasia (FMD) is \u201can idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries\u201d (Persu, et al; 2014). FMD can lead to hypertension, arterial dissections, subarachnoid haemorrhage, stroke or mesenteric ischemia. The pathophysiology of the disease remains elusive. While familial cases are rare (&lt;5%) in contemporary FMD registries, there is evidence in favour of the existence of multiple genetic factors involved in this vascular disease. Recent collaborative efforts allowed the identification of a first genetic locus associated with FMD. This intronic variant located in the phosphatase and actin regulator 1 gene (PHACTR1) may influence the transcription activity of the endothelin-1 gene (EDN1) located nearby on chromosome 6. Interestingly, the PHACTR1 locus has also been involved in vascular hypertrophy in normal subjects, carotid dissection, migraine and coronary artery disease. National and international registries of FMD patients, with deep and harmonised phenotypic and genetic characterisation, are expected to be instrumental to improve our understanding of the genetic basis and pathophysiology of this intriguing vascular disease.<\/jats:p>","DOI":"10.3390\/ijms19051526","type":"journal-article","created":{"date-parts":[[2018,5,21]],"date-time":"2018-05-21T04:07:30Z","timestamp":1526875650000},"page":"1526","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Genomics of Fibromuscular Dysplasia"],"prefix":"10.3390","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8001-6007","authenticated-orcid":false,"given":"Silvia","family":"Di Monaco","sequence":"first","affiliation":[{"name":"Division of Cardiology, Cliniques Universitaires Saint-Luc, Universit\u00e9 Catholique de Louvain, 1200 Brussels, Belgium"},{"name":"Department of Medical Sciences, Internal Medicine and Hypertension Division, AOU Citt\u00e0 della Salute e della Scienza, University of Turin, 10124 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4208-2393","authenticated-orcid":false,"given":"Adrien","family":"Georges","sequence":"additional","affiliation":[{"name":"INSERM, UMR970 Paris Cardiovascular Research Center (PARCC), F-75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0134-1769","authenticated-orcid":false,"given":"Jean-Philippe","family":"Lengel\u00e9","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Cliniques Universitaires Saint-Luc, Universit\u00e9 Catholique de Louvain, 1200 Brussels, Belgium"},{"name":"Department of Nephrology, Grand H\u00f4pital De Charleroi, 6060 Gilly, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6236-338X","authenticated-orcid":false,"given":"Miikka","family":"Vikkula","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, 1200 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4007-9695","authenticated-orcid":false,"given":"Alexandre","family":"Persu","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Cliniques Universitaires Saint-Luc, Universit\u00e9 Catholique de Louvain, 1200 Brussels, Belgium"},{"name":"Pole of Cardiovascular Research, Institut de Recherche Exp\u00e9rimentale et Clinique, Universit\u00e9 catholique de Louvain, 1200 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,5,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1097\/HJH.0000000000000213","article-title":"European consensus on the diagnosis and management of fibromuscular dysplasia","volume":"32","author":"Persu","year":"2014","journal-title":"J. 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