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Pharmacogenetics and Pharmacogenomics (Farmakogenetika i farmakogenomika), issue 2, pages 5-12

Genetic factors contributing to the development of metabolic syndrome

C. E. Kalashnikova 1
E. V. Shrayner 2
Valeria I. Bystrova 1
Galina I. Lifshits 2
2
 
Novosibirsk State University ; Institute of Chemical Biology and Fundamental Medicine Siberian Branch of the Russian Academy of Sciences
Publication typeJournal Article
Publication date2025-03-04
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ISSN26868849, 25880527
Abstract

Recently, the role of metabolic syndrome (MS) has become crucial. There is a tendency for this disease to increase not only in the Russian Federation and throughout the world. According to World Health Organization data for 2022, approximately 60% of the European population is overweight or obese. The United States and Russia have the largest numbers of obese individuals. MS often occurs in developed countries, mainly in the adult population, and is a comorbid pathology. MS increases the risk of future disability and mortality. Despite the environmental factors that increase the risk of MS, genetic factors are also involved in the development of this pathology. The genes involved in the development of MS: MC4R, LEP, LEPR, PCSK1, ADCY3, POMC, and MRAP2, were identified. These genes and MRAP2 were identified and involved in the leptin-melanocortin signaling pathway, namely, they regulate energy metabolism, which, when a mutation occurs, leads to nonsyndromic monogenic obesity. MS is a multifactorial pathological condition that includes four independent sub-syndromes: obesity or overweight, hypertension, dyslipidemia, and insulin resistance. This article describes the features of genes contributing to the development of MS as well as the clinical features of the MS course.

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