Genetic basis of metabolic syndrome

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Abstract

Metabolic syndrome is a common heterogeneous condition representing a combination of metabolic abnormalities that increase the risk of cardiovascular disease, type 2 diabetes, and other conditions.

Over the past decade, studies of the pathogenesis of metabolic syndrome have advanced through the development of molecular genetics, transcriptomics, and sequencing technologies. Numerous studies have demonstrated that the analysis of genetic markers and epigenetic changes associated with metabolic disorders and chronic inflammation is an important area in exploring the pathogenesis and etiology of this condition.

The purpose of this review was to describe chromosomal loci and gene polymorphisms associated with metabolic syndrome based on recent Russian and international data published over the last 10 years. Chromosomal loci and gene polymorphisms were assessed in accordance with the main components of metabolic syndrome: insulin resistance, atherogenic dyslipidemia, central obesity, and hypertension.

Chromosomal loci specific to patients with manifestations of metabolic syndrome have been identified; however, no single etiologically significant locus has been established to date. The significance of apolipoprotein A5 and E2 gene polymorphisms in the development of metabolic syndrome has been confirmed. The association between FTO gene polymorphism and obesity has been validated. The GCKR gene is associated with elevated triglyceride levels and contributes to the development of obesity and insulin resistance. The BUD13 rs7118999 polymorphism increases the risk of metabolic syndrome. The IL-6 gene polymorphism is associated not only with metabolic syndrome but also with coronary heart disease and type 2 diabetes. The TCF7L2 gene polymorphism is associated with an increased risk of hypertension and low high-density lipoprotein cholesterol levels. The polymorphisms of adiponectin and leptin genes have also been linked to various components of metabolic syndrome.

Thus, the findings of studies on gene polymorphisms indicate that most of these genetic variants are involved in lipid metabolism, and a common genetic basis for metabolic syndrome has not yet been established.

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About the authors

Liana V. Riabova

South-Ural State Medical University

Email: lianarabowa@rambler.ru
ORCID iD: 0000-0001-5367-2001
SPIN-code: 7295-2126

MD, Dr. Sci. (Medicine), Professor

Russian Federation, Chelyabinsk

Ksenia S. Savchuk

City Clinical Polyclinic No. 8, Chelyabinsk

Author for correspondence.
Email: ksenyasavchuk@gmail.com
ORCID iD: 0000-0003-4016-1880
SPIN-code: 4974-0009
Russian Federation, 3 Lenin ave, Chelyabinsk, 454007

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