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Genomics of Fibromuscular Dysplasia

Silvia Di Monaco1,2, Adrien Georges3, Jean-Philippe Lengelé4,5

  • 1Division of Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Brussels, Belgium. silvia.dimonaco@gmail.com.

International Journal of Molecular Sciences
|June 9, 2018
PubMed

Insights

Fibromuscular dysplasia (FMD) is a rare vascular disease. A newly identified genetic variant in the PHACTR1 gene may contribute to FMD development, offering insights into its underlying causes.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Vascular Biology

Background:

  • Fibromuscular dysplasia (FMD) is an idiopathic, non-atherosclerotic arterial disease affecting small to medium-sized arteries.
  • FMD can lead to serious complications including hypertension, arterial dissection, stroke, and mesenteric ischemia.
  • The precise pathophysiology and genetic underpinnings of FMD remain largely unknown.

Purpose of the Study:

  • To investigate the genetic factors contributing to Fibromuscular Dysplasia.
  • To identify specific genetic loci associated with FMD susceptibility.
  • To explore the potential role of identified genetic variants in FMD pathogenesis.

Main Methods:

  • Analysis of genetic data from Fibromuscular Dysplasia patient cohorts.
  • Identification and characterization of genetic variants associated with FMD.
  • Investigating the functional impact of identified variants on nearby gene transcription.

Main Results:

  • A significant genetic locus associated with FMD has been identified.
  • An intronic variant within the PHACTR1 gene is linked to FMD.
  • This PHACTR1 variant may affect the transcriptional activity of the nearby EDN1 gene.

Conclusions:

  • The PHACTR1 gene is implicated in the genetic basis of Fibromuscular Dysplasia.
  • The identified PHACTR1 variant represents a potential risk factor for FMD.
  • Further research using large patient registries is crucial for understanding FMD genetics and pathophysiology.
Keywords:
PHACTR1cervical artery dissectionfibromuscular dysplasiagenetic associationnon atherosclerotic vascular stenosisspontaneous coronary arteries dissection

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