Polymorphisms of the renin-angiotensin system in patients with multifocal renal arterial fibromuscular dysplasia

Fibromuscular Dysplasia: State of the Science and Critical Unanswered Questions

“…A genetic variant in the angiotensin-converting enzyme (ACE) was associated with FMD in a small case-control study of 43 renal FMD patients and 89 normotensive control subjects but has not been replicated. 43 Case reports described individuals with α-1 antitrypsin deficiency and FMD, but a large case-control study reported no such association. [44][45][46][47] Additional studies have evaluated common variants in ACTA2, the gene for smooth muscle cell α-actin, and elastin genes and found no relation with FMD.…”

Revisiting Fibromuscular Dysplasia

“…Accordingly, it may be postulated that there is a continuum between both forms and that, alongside with environmental factors, genetic factors may also contribute to the pathogenesis of apparently sporadic FMD. Earlier case-control studies failed to show an association between FMD and variants of genes coding for components of the renin-angiotensin system 51 and extracellular matrix, 52 including α-1 antitrypsin. 53 However, a large association study looking for enrichment in gene variants in patients with sporadic FMD compared with controls disclosed a significant association between multifocal FMD and 3 genes coding for muscle proteins (OBSCN, DYNC2H1, and MYLK), one of them (MYLK) also involved in familial thoracic aortic dissection, and a fourth one associated with susceptibility to Moyamoya disease (RNF213).…”

Nonatherosclerotic Obstructive Vascular Diseases of the Mesenteric and Renal Arteries

“…Pannier-Moreau et al 12 in 1997 conducted a retrospective analysis of 104 patients and showed a prevalence of 11% for familial cases. HLA-DRw6 10 and polymorphisms of the renin-angiotensin system are perhaps linked to FMD 13 ; however, further studies need to confirm these findings.…”