The Role of Genetic Factors in Pathogenesis of Acute Rheumatic Fever and Rheumatic Heart Disease (Review of the literature)
Year: 2025
Type: article
Abstract: Acute rheumatic fever (ARF) and rheumatic heart disease (RHD) still belong to diseases whose pathogenesis remains unclear. The issue of its multifactorial nature is widely discussed in the literature. Genetic, environmental, immunological, hormonal, infectious and other factors actively participate in the development of the rheumatic process. Unlike classical genetic diseases, in which many different genes and their combinations predispose to the development of the disease, ARF is a genetically heterogeneous disease, which is primarily caused by genetic imperfection of immunoregulatory processes. According to numerous studies, the risk of rheumatic process development is associated with the carriage of the major histocompatibility complex antigen class II human leukocyte antigen (HLA)-DR4 and HLA-DR1, which includes more than 20 alleles. The roles of other genetic factors not directly associated with HLA-DR are also actively discussed. These include gene polymorphism of mannose binding lectin-2 (MBL2), ficolin-1 (FCN1), and ficolin-2 (FCN2), tumor necrosis factor (TNF), interleukin-1 receptor antagonist (IL1RN), transforming growth factor β1 (TGFβ1), etc. However, it should be noted that the results available to date are contradictory, some of them have a number of limitations related to the sample size. Thus, according to the literature data, we analyzed the direct connection of these genes with predisposition to ARF and RHD. It can be concluded that further study of the presence of such genes in patients with rheumatic process is very relevant at the moment in order to assess their impact on the possibility of disease development, variants of the clinical course, treatment and prognosis of this pathology.
Author: Khuraman Safarova
Institution: Azerbaijan State Pedagogical University
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414792862
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