Polymorphisms of thrombophilia genes with some visceral signs of connective tissue dysplasia


DOI: https://dx.doi.org/10.18565/therapy.2020.6.46-51

Yagoda A.V., Airapetian L.A.

Stavropol State Medical University of the Ministry of Healthcare of Russia
The aim of the study: to establish the relationship between some developmental anomalies and dysplastic-dependent lesions of the gall bladder (GB), kidneys in young patients with connective tissue dysplasia and polymorphisms of genes (regulators of blood coagulation, platelet aggregation and homocysteine metabolism).
Material and methods. Data on the study of polymorphisms of 12 genes of the hemostasis system (blood coagulation factors, platelet receptor glycoproteins, regulator genes for homocysteine metabolism) in young people (Slavs) with connective tissue dysplasia and in control individuals was investigated.
Results and conclusion. A burdened family history of thrombosis and hemorrhage in first-line relatives was encountered with abnormalities and dysplastic-dependent changes in the GB and urinary system (US) more often than in the general group of patients with DST. The presence of an association of the constriction of the gallbladder with the A allele, genotypes A/A and G/A of the FII gene: 20210G/A (prothrombin) is proved. In the group with JB anomalies, the frequency of occurrence of integrin gene polymorphisms, ITGA2-α2: 807С / Т and ITGВ-3β: 1565Т / С, controlling platelet receptors for collagen and fibrinogen, was determined to be relatively higher than in the absence of anomalies. A reliable relationship between nephroptosis and genotypes A/A and G/A of the FGB gene: -455G / A (fibrinogen) and an increase in US anomalies as compared to controlling the frequency of its heterozygotes were shown. In case of anomalies of the urinary system, the incidence of heterozygotes in the total fraction of the studied folate cycle genes was found to be lower than in cases without anomalies.
Keywords: thrombophilia genes, abnormalities, kidneys, gall bladder, connective tissue dysplasia, polymorphism
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About the Autors

Alexander V. Yagoda, MD, professor, head of Department of hospital therapy of Stavropol State medical University of the Ministry of Healthcare of Russia, honored worker of science of the Russian Federation. Address: 355017, Stavropol, 310 Mira str. Tel.: + 7 (8652) 29-53-09. E-mail: аlexander.yagoda@gmail.com. ORCID: 0000-0002-5727-1640
Lidia A. Airapetian, cardiologist, applicant of the Department of hospital therapy of Stavropol State medical University of the Ministry of Healthcare of Russia. Address: 355017, Stavropol, 310 Mira str. Tel.: + 7 (909) 773-59-08. E-mail: lidia13011991@gmail.com


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