MOLECULAR GENETIC DIAGNOSIS OF INFLAMMATORY BOWEL DISEASES
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Keywords

CARD15 gene, polymorphism, genetic testing, prognosis, Crohn's disease, ulcerative colitis

Abstract

Inflammatory bowel diseases (IBD), namely Crohn's disease (CD) and ulcerative colitis (UC), despite the development of modern, high-tech methods of diagnosis and treatment, in almost all countries maintain or acquire a tendency to increase the prevalence and incidence, especially among persons young and working age (Kaplan G.G., 2015; Ng S.C. et al., 2018). At the same time, the lack of an unambiguous understanding of the causes and mechanisms of IBD development makes it difficult to establish a diagnosis of CD or UC in a timely manner, which, in some cases, leads to the development of severe complications requiring surgical intervention and an unfavorable medical and social prognosis (Zhang Y.Z. et al., 2014; de Lange K.M. et al., 2015). In addition, the similarity of clinical, endoscopic and laboratory signs of CD and UC makes it difficult to carry out their differential diagnosis, as well as individual prediction of the clinical course of diseases and the correct choice of treatment tactics (Dulai P.S. et al., 2018). This, in turn, determines the need for improvement of traditional diagnostic algorithms for IBD using laboratory biomarkers that have clinical, pathogenetic, diagnostic and prognostic significance in CD and UC. Certain prospects for improving the efficiency of diagnostics аnd predicting the risk of developing IBD appeared after deciphering the human genome Gene polymorphisms associated with the clinical implementation of key links in the pathogenesis of CD and UC, in particular, disorders of innate and adaptive immunity, differentiation of Th17-lymphocytes, intestinal mucosal and epithelial barriers, and autophagy, have been identified (Zhang J.X. et al., 2014; Aamann L. et al., 2014; Cheng Y. et al. 2015). However, the available data on the features of the clinical implementation of genetic factors associated with the development of IBD, obtained in different countries and even in different regions within the same country, are very contradictory (LeeG.H.etal., 2005; Valuyskikh E.Yu., 2008; Chua K. H. et al., 2009; Shumilov P. V., 2010; Nasykhova Yu. A. et al., 2010; Liu J. Z.et al., 2015), which hinders the introduction of molecular genetic methods for diagnosing CD and UC into clinical practice. Perhaps this is due to the different prevalence of the studied polymorphisms, as well as the peculiarities of their clinical implementation in various combinations with individual environmental factors.

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