22 results match your criteria: "Research Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics[Affiliation]"

Seasonal differences in participation and time spent in physical activity in Russia: The Know Your Heart survey.

Int J Health Plann Manage

September 2024

International Research Competence Centre, Central Scientific Research Laboratory, Northern State Medical University, Arkhangelsk, Russia.

This study aimed to assess the levels and investigate socioeconomic, demographic, and health-related predictors of winter and summer physical activity (PA) in Russia using the data from the Know Your Heart population survey conducted in Novosibirsk and Arkhangelsk (2015-2018; n = 5068; aged 35-69 years). Employing a series of probit, Tobit, and the Cragg models, we separated the predictors of the probability of participating in leisure-time PA from the predictors of time spent in PA. Our study showed that financial constraints limited males' participation in winter PA (probability of participation decreased by 12 percentage points) and females' engagement in winter and summer PA (decrease in the number of hours of practicing PA by approximately 1 h a week).

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Article Synopsis
  • The study explores the link between epigenetic age acceleration (EAA) from DNA methylation and the risk of developing colorectal cancer (CRC) using data from 9,360 participants over 16 years.
  • Four measures of EAA (Horvath, Hannum, PhenoAge, and BLUP) were positively associated with increased CRC risk, with odds ratios significantly above 1 for each decile increase.
  • Two other EAA measures (Skin and Blood, and Elastic Net) showed a negative or minimal association with CRC risk, indicating the need for further research to understand these relationships better.
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We explored the relationship between the copy number of mitochondrial DNA (mtDNA-CN) and all-cause natural mortality. We examined a random population sample in 2003/2005 ( = 9360, men/women, 45-69, the HAPIEE project) and followed up for 15 years. Using a nested case-control design, we selected non-external deaths among those free from baseline cardiovascular diseases (CVD) and cancer ( = 371), and a sex- and age-stratified control ( = 785).

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Functionally Significant Variants in Genes Associated with Abdominal Obesity: A Review.

J Pers Med

March 2023

Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Prospekt Akad. Lavrentyeva 10, Novosibirsk 630090, Russia.

The high prevalence of obesity and of its associated diseases is a major problem worldwide. Genetic predisposition and the influence of environmental factors contribute to the development of obesity. Changes in the structure and functional activity of genes encoding adipocytokines are involved in the predisposition to weight gain and obesity.

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During differential diagnosis of diabetes mellitus, the greatest difficulties are encountered with young patients because various types of diabetes can manifest themselves in this age group (type 1, type 2, and monogenic types of diabetes mellitus, including maturity-onset diabetes of the young (MODY)). The MODY phenotype is associated with gene mutations leading to pancreatic-β-cell dysfunction. Using next-generation sequencing technology, targeted sequencing of coding regions and adjacent splicing sites of MODY-associated genes (, , , , , , , , , , , , , and ) was carried out in 285 probands.

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The regulation of oncogenes by microRNA is a focus of medical research. hsa-miR-203, hsa-mir-129, hsa-miR-34a, hsa-miR-34b and hsa-miR-34c are oncosuppressive microRNAs that mediate the antitumor activity of p53. We seek to evaluate the frequencies, co-occurrence and clinical significance of the methylation of the , , and genes in the tumor tissue of diffuse large B-cell lymphoma (DLBCL).

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Basic Research in Atherosclerosis: Technologies of Personalized Medicine.

J Pers Med

February 2022

Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), 175/1 Borisa Bogatkova Str., 630089 Novosibirsk, Russia.

The first national conference with international participation, "Fundamental aspects of atherosclerosis: scientific research for improving the technologies of personalized medicine", was held in Novosibirsk on 15 October 2021 [...

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We investigated the relationship between 'epigenetic age' (EA) derived from DNA methylation (DNAm) and myocardial infarction (MI)/acute coronary syndrome (ACS). A random population sample was examined in 2003/2005 ( = 9360, 45-69, the HAPIEE project) and followed up for 15 years. From this cohort, incident MI/ACS (cases, = 129) and age- and sex-stratified controls ( = 177) were selected for a nested case-control study.

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This study investigated 12-year blood lipid trajectories and whether these trajectories are modified by smoking and lipid lowering treatment in older Russians. To do so, we analysed data on 9,218 Russian West-Siberian Caucasians aged 45-69 years at baseline participating in the international HAPIEE cohort study. Mixed-effect multilevel models were used to estimate individual level lipid trajectories across the baseline and two follow-up examinations (16,445 separate measurements over 12 years).

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Innate-Immunity Genes in Obesity.

J Pers Med

November 2021

Federal Research Center, Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), 630090 Novosibirsk, Russia.

The main functions of adipose tissue are thought to be storage and mobilization of the body's energy reserves, active and passive thermoregulation, participation in the spatial organization of internal organs, protection of the body from lipotoxicity, and ectopic lipid deposition. After the discovery of adipokines, the endocrine function was added to the above list, and after the identification of crosstalk between adipocytes and immune cells, an immune function was suggested. Nonetheless, it turned out that the mechanisms underlying mutual regulatory relations of adipocytes, preadipocytes, immune cells, and their microenvironment are complex and redundant at many levels.

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The first all-Russia conference with international participation, "Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine", was held in Novosibirsk on 26-27 November 2020. [..

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Article Synopsis
  • - Maturity onset diabetes of the young (MODY) is a genetic form of diabetes that appears in young individuals, caused by defects in pancreatic beta-cell function, with 14 known subtypes linked to specific gene mutations.
  • - The most common MODY subtypes are linked to mutations in genes such as HNF1A, GCK, and HNF4A, with up to 70% of cases arising from HNF1A and HNF4A mutations.
  • - In a study of 178 patients in Western Siberia, novel mutations were identified in several MODY genes among 38 individuals, highlighting the genetic diversity and complexity of this condition.
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Genetic Risk Score for Coronary Heart Disease: Review.

J Pers Med

November 2020

Institute of Internal and Preventive Medicine-Branch of Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Bogatkova Str. 175/1, Novosibirsk 630089, Russia.

The present review deals with the stages of creation, methods of calculation, and the use of a genetic risk score for coronary heart disease in various populations. The concept of risk factors is generally recognized on the basis of the results of epidemiological studies in the 20th century; according to this concept, the high prevalence of diseases of the circulatory system is due to lifestyle characteristics and associated risk factors. An important and relevant task for the healthcare system is to identify the population segments most susceptible to cardiovascular diseases (CVDs).

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Article Synopsis
  • * Researchers analyzed a group of 151 patients with MODY and found 13 variants; one specific variant, rs11544593, was significantly more common in the MODY patients compared to a control group.
  • * The study suggests that the rs11544593 variant may affect blood glucose levels and could have implications for understanding carbohydrate metabolism issues in MODY patients.
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Background: The objective of this work was to study the profile of fatty acids and to search for associations of fatty acids with oxidative-antioxidant parameters and an oxidative-inflammatory biomarker (lipoprotein-associated phospholipase A2) in men with coronary atherosclerosis and coronary heart disease.

Methods: Analysis of 20 fatty acids was performed in 60 men with angiographically confirmed coronary atherosclerosis and coronary heart disease and in a control group of men without coronary heart disease. Serum fatty-acid content was evaluated by high-performance gas-liquid chromatography.

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This review addresses the contribution of some genes to the phenotype of familial hypercholesterolemia. At present, it is known that the pathogenesis of this disease involves not only a pathological variant of low-density lipoprotein receptor and its ligands (apolipoprotein B, proprotein convertase subtilisin/kexin type 9 or low-density lipoprotein receptor adaptor protein 1), but also lipids, including sphingolipids, fatty acids, and sterols. The genetic cause of familial hypercholesterolemia is unknown in 20%-40% of the cases.

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The B (rs708272) single-nucleotide variant, i.e., the +279 G/A substitution in intron 1 of the gene, is actively investigated as a risk factor of lipid metabolism disorders.

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The 9p21.3 chromosomal region is a marker of the risk of cardiovascular diseases. The aim of this study was to analyze single-nucleotide polymorphism rs1333049 (chr9:22125504) in the population of Western Siberia (Russia) and possible associations with clinical and biochemical parameters.

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Background: Tick-borne encephalitis (TBE) is a viral infectious disease caused by tick-borne encephalitis virus (TBEV). TBEV infection is responsible for a variety of clinical manifestations ranging from mild fever to severe neurological illness. Genetic factors involved in the host response to TBEV that may potentially play a role in the severity of the disease are still poorly understood.

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Exome-wide survey of the Siberian Caucasian population.

BMC Med Genet

April 2019

The Federal Research Center Institute of Cytology and Genetics, The Siberian Branch of the Russian Academy of Sciences, Lavrentieva 10 St, Novosibirsk, Russia, 630090.

Article Synopsis
  • The study investigates genetic variation in a group of 39 Siberian Caucasians from Novosibirsk, comparing their genetic data to European populations from the 1000 Genomes Project.
  • Researchers used advanced sequencing techniques and data analysis methods to explore population structure and identify significant genetic polymorphisms linked to health conditions.
  • The findings highlight notable genetic differentiation between the Siberian population and Europeans, revealing important medically relevant genetic variants that underscore the need for more population-based genetic research.
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Objective: Earlier, GLIS3 gene polymorphisms have been shown to be associated with the development of maturity onset diabetes of the young (MODY). We screened GLIS3 gene sequences among patients with MODY to identify probably pathogenic variants by whole-exome sequencing. We estimated frequency of rare single-nucleotide variants in the coding region of GLIS3 in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia.

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Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus.

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