Alpha1-antitrypsin gene polymorphisms are not associated with renal arterial fibromuscular dysplasia

Journal of Hypertension
Jérôme PerduXavier Jeunemaitre

Abstract

We previously showed that fibromuscular dysplasia (FMD) of the renal artery may be familial. Case reports have associated alpha1-antitrypsin deficiency and FMD. The aim of this study was to test the implication of the alpha1-antitrypsin (AAT) gene in a large cohort of patients with renal FMD. A case-control study comparing the genotype frequencies in 161 consecutive patients with angiographically proven renal FMD with those observed in three sets of controls (353 hypertensive patients, 288 normotensive patients, 444 normotensive women) was conducted. High-resolution echotracking of the carotid and radial arteries was performed in a subset of 77 FMD patients. Three functional polymorphisms of the AAT gene (PiM1, PiZ, PiS) were investigated. Clinical (age 44.3 +/- 13.8 years, 85.1% women) and radiological (77.1% of multifocal lesions) characteristics of the FMD population were consistent with those previously published. No differences were found in AAT genotype frequencies in the FMD subjects compared with the 1085 controls. We found no correlation between the AAT genotypes and the clinical and angiographical characteristics of the FMD patients. Echotracking results confirmed our previously published results in FMD patients with ...Continue Reading

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Citations

Oct 18, 2008·The Journal of Laryngology and Otology·E KunstmannD Brors
Jun 9, 2007·Orphanet Journal of Rare Diseases·Pierre-François PlouinXavier Jeunemaitre
Dec 16, 2006·The Journal of Clinical Hypertension·L Michael PrisantLaura L Mulloy
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Oct 3, 2008·Current Opinion in Cardiology·Jeffrey W Olin, Matthew Pierce
Jun 9, 2018·International Journal of Molecular Sciences·Silvia Di MonacoAlexandre Persu

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