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Titre du document / Document title

The vitamin D receptor genotype predisposes to the development of calcific aortic valve stenosis

Auteur(s) / Author(s)

ORTLEPP J. R. (1) ; HOFFMANN R. (1) ; OHME F. (1) ; LAUSCHER J. (1) ; BLECKMANN F. (1) ; HANRATH P. (1) ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

(1) Medical Clinic I, University Hospital of Aachen, Pauwelsstrasse 30, 52057 Aachen, ALLEMAGNE

Résumé / Abstract

Objective-To test the hypothesis that vitamin D receptor polymorphism is associated with calcific aortic valve stenosis. Design-The distribution of one polymorphism of the vitamin D receptor (BsmI B/b) was examined in 100 consecutive patients with calcific valvar aortic stenosis and compared with a control group of 100 patients (paired match for age, sex, and the presence of coronary artery disease from a total of 630 patients without calcified aortic valves). Polymerase chain reaction and restriction fragment length polymorphism were used to determine genotypes. Results-There was a significant difference in vitamin D receptor allele and genotype frequencies between the two groups. The allele B had a higher prevalence in patients with calcific aortic stenosis (B = 0.56, b = 0.44) than in the control cohort (B = 0.40, b = 0.60) (p = 0.001). Conclusions-There is a significant association of vitamin D receptor polymorphism with calcific aortic valve stenosis. The B allele of the vitamin D receptor is more common in patients with calcific aortic valve stenosis. It now needs to be evaluated whether other genes that control calcium homeostasis are involved in the pathogenesis of this disorder.

Revue / Journal Title

Heart   ISSN 1355-6037 

Source / Source

2001, vol. 85, no6, pp. 635-638 (24 ref.)

Langue / Language

Anglais

Editeur / Publisher

BMJ, London, ROYAUME-UNI  (1996) (Revue)

Mots-clés anglais / English Keywords

Narrowing ; Aortic valve ; Calcification ; Vitamin D ; Biological receptor ; Gene ; Polymorphism ; Risk factor ; Genetic determinism ; Human ; Cardiovascular disease ; Cardiac valvular disease ;

Mots-clés français / French Keywords

Rétrécissement ; Valvule aortique ; Calcification ; Vitamine D ; Récepteur biologique ; Gène ; Polymorphisme ; Facteur risque ; Déterminisme génétique ; Homme ; Appareil circulatoire pathologie ; Cardiopathie valvulaire ;

Mots-clés espagnols / Spanish Keywords

Estrechamiento ; Válvula aórtica ; Calcificación ; Vitamina D ; Receptor biológico ; Gen ; Polimorfismo ; Factor riesgo ; Determinismo genético ; Hombre ; Aparato circulatorio patología ; Cardiopatía valvular ;

Localisation / Location

INIST-CNRS, Cote INIST : 3995, 35400009541732.0140

Nº notice refdoc (ud4) : 983698

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