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The genetic background of calcific aortic valve disease: retrospective study

[Internal diseases]
Elena Scheglova; Asiyat Laipanova; Madina Baikulova; Zarema Chotchayeva; Alexandr Yagoda; Olga Boeva;

We examined 108 patients with tricuspid aortic valve (AV) calcification (48.5 % males, mean age 72.5±7.5 years). Control group consisted of 92 patients with intact AV and comparable with the main group by sex, age and profile of cardiovascular disease. Diagnosis of calcific aortic valve disease was verified through multislice spiral computed tomography and echocardiography. Genotyping was carried out by polymerase chain reaction. Genetic polymorphisms were determined: Leu28Pro of the apolipoprotein E gene, Gln192Arg of the paraoxonase 1 gene, 8202A>G of matrix metalloproteinase type 9 gene, 536C>T of the tissue inhibitor of the matrix metalloproteinases type 1 gene, 138T>C and 7G>A of the matrix GLA-protein gene, 66T>G of the osteopontin gene and TagIC>T of the vitamin D receptor gene of apoE. It is established that the alleles 66G of osteopontin gene, 7A of matrix GLA-protein gene, as well as TagI T of vitamin D receptor gene are more common in patients with CAVD and showed association with this disease. The presence of the osteopontin gene and the 8202G allele of the 9 type matrix metalloproteinase gene in the genotype of the 66G allele indicates a risk of aortic stenosis
with an already available valvular calcification. The data presented open the new approaches to the early diagnosis and prevention of calcific aortic valve disease in the clinical practice and serve as a basis for future research.

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Keywords: calcific aortic valve disease, aortic stenosis, genetic polymorphism, osteopontin, matrix Gla-protein, vitamin D receptor, metalloproteinase


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