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


METHODS
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.


RESULTS
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 a specific pattern and a mean arterial phenotypic score greater than 3. However, no difference in the arterial score was observed across the genotypes.


CONCLUSIONS
Polymorphisms PiM1, PiZ and PiS of the AAT gene are not associated with renal FMD or infraclinical carotid lesions detected by echotracking methods. As the true prevalence of renal FMD is not precisely known and alpha1-antitrypsin deficiency is not infrequent in the general population, the association of the two may occur by chance.
Assistance Publique - Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Department of Medical Genetics, Paris, France. jerome.perdu@egp.ap-hop-paris.fr
Jérôme
J
Perdu
Anne-Paule
AP
Gimenez-Roqueplo
Pierre
P
Boutouyrie
Sandrine
S
Beaujour
Brigitte
B
Laloux
Valérie
V
Nau
Béatrice
B
Fiquet-Kempf
Joseph
J
Emmerich
Jean
J
Tichet
Pierre-François
PF
Plouin
Stéphane
S
Laurent
Xavier
X
Jeunemaitre
D000328:Adult; D000483:Alleles; D005260:Female; D005352:Fibromuscular Dysplasia / Q000235:genetics / Q000473:pathology*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D012077:Renal Artery / Q000378:metabolism / Q000473:pathology*; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin