Blood Lipid Polygenic Risk Score Development and Application for Atherosclerosis Ultrasound Parameters.

The present study investigates the feasibility of using three previously published genome-wide association studies (GWAS) results on blood lipids to develop polygenic risk scores (PRS) for population samples from the European part of the Russian Federation. Two population samples were used in the study - one from the Ivanovo region ( = 1673) and one from the Vologda region ( = 817). We investigated three distinct approaches to PRS development: using the straightforward PRS approach with original effect sizes and fine-tuning with PRSice-2 and LDpred2.

Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study.

Patients with genetically-based hyperlipidemias exhibit a wide phenotypic variability. Investigation of clinical and biochemical features is important for identifying genetically-based hyperlipidemias, determining disease prognosis, and initiating timely treatment. We analyzed genetic data from 3374 samples and compared clinical data, lipid levels (low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, triglycerides, and lipoprotein (a)), frequency, age at onset of coronary heart disease (CHD), and the severity of carotid and femoral atherosclerosis (plaque number, maximum stenosis, total stenosis, maximum plaque height, and plaque score) among patients with familial hypercholesterolemia (FH), familial dysbetalipoproteinemia (FD), polygenic hypercholesterolemia (HCL), severe HCL, and those without lipid disorders (n = 324).

Spectrum and Prevalence of Rare Variants and Their Association with Familial Dysbetalipoproteinemia.

Familial dysbetalipoproteinemia (FD) is a highly atherogenic, prevalent genetically based lipid disorder. About 10% of FD patients have rare variants associated with autosomal dominant FD. However, there are insufficient data on the relationship between rare variants and FD.

Validation of SCORE2 on a sample from the Russian population and adaptation for the very high cardiovascular disease risk region.

SCORE2 (Systematic COronary Risk Evaluation 2) is a risk assessment scale for cardiovascular events, presented in 2021 by the European Society of Cardiology. Both for training and validation of the SCORE2 model, representative samples from the Russian population were not used. Therefore, we aimed to validate SCORE2 on a such sample.

Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study.

Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of FD diagnostic criteria and the prevalence of FD in Russia have not been previously assessed.

Mental Health of the Russian Federation Population versus Regional Living Conditions and Individual Income.

The objective of our study was to assess the impact of regional living conditions on the Russian population's mental health. For the analysis, we used data from the cross-sectional stage of a 2013-2014 study, "Epidemiology of Cardiovascular Diseases in the Regions of the Russian Federation (ESSE-RF)". The final sample included 18,021 men and women 25-64 years of age from 11 regions of Russia.

Relationship between characteristics of large national regions and individual alcohol consumption: a scoping review.

Objective: The goal of our article was to systematise studies that investigated the impact of living conditions in large national regions on individual alcohol consumption.

Methods: The objectives of the scoping review, the criteria and methods for selecting articles were defined in advance and recorded in the protocol PROSPERO CRD42021234874. We sought publications on the research topic in PubMed, Google Scholar, OpenGrey, Crossref and eLibrary databases from the moment they were created until December 31, 2021.

Regional Living Conditions and Individual Dietary Characteristics of the Russian Population.

The goal of our study was to examine the effects of the regional characteristics of the living environment on individual a priori and a posteriori dietary patterns of the Russian population. For the analysis, we used cross-sectional data from the Epidemiology of Cardiovascular Diseases in the Regions of the Russian Federation study from 2013-2014. The sample included 18,054 men and women 25-64 years of age from 12 regions.

Epidemiology of risk factors and estimating 10-year probability of osteoporotic fractures in the Russian Federation.

Unlabelled: In assessing the risk of fractures, an important role is played by risk factors (RFs), the prevalence of which must be known among residents with different types of settlement in order to plan preventive measures in risk groups for fractures. Prevalence RFs varied depending on constituent entities and the settlement type.

Purpose: To investigate the prevalence of osteoporotic fractures (OPF) RFs and estimate absolute risk (AR) of OPF among urban vs rural residents of the Russian Federation.

Regional living conditions and the prevalence, awareness, treatment, control of hypertension at the individual level in Russia.

Background: The objective of our study was to investigate the associations of characteristics inherent in large Russian Federation (RF) regions with prevalence, awareness, treatment and control of hypertension at the individual level.

Methods: Regional characteristics were obtained from the official website of the Federal State Statistics Service of the RF. We employed principal component analysis to reduce the dimensionality of data, which allowed defining five integral regional indices.

Lipoprotein Profile in Populations from Regions of the Russian Federation: ESSE-RF Study.

This study aimed to describe the dyslipidemia prevalence and pattern among adult populations from different regions ( = 13) of the Russian Federation (RF). Randomly selected samples ( = 22,258, aged 25-64) were studied according to the ESSE-RF protocol. Lipoprotein parameters were estimated by routine methods.

What Regional Living Conditions Affect Individual Smoking of Adults in Russia.

Our study evaluated the impact of a wide range of characteristics of large administrative regions on the individual level of cigarette smoking in the Russian adult population. The pool of participants included 20,303 individuals aged 25-64 years. We applied 64 characteristics of the 12 Russian regions under study for 2010-2014.

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow. Approximately 11% of 11,876 detected variants were not found in the Single Nucleotide Polymorphism Database (dbSNP) or reported earlier in the Russian population. Most novel variants were singletons and doubletons in our sample, and virtually no novel alleles presumably specific for the Russian population were able to reach the frequencies above 0.

The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic conditions but remains substantially underdiagnosed. The aim of our study was to investigate the prevalence of HeFH in the population of 11 different regions of Russia. Individuals were selected from the Epidemiology of Cardiovascular Risk Factors and Diseases in Regions of the Russian Federation Study.

Lipoprotein(a) in an adult sample from the Russian population: distribution and association with atherosclerotic cardiovascular diseases.

Introduction: Lipoprotein(a) (Lp(a)) is recognized as an independent risk factor for atherosclerotic cardiovascular disease (ASCVD). The aim of this study was to estimate the distribution of Lp(a) levels in working age adults from the Russian population and to assess its association with ischemic heart disease (IHD), myocardial infarction (MI), stroke, diabetes mellitus (DM), and arterial hypertension (AH).

Material And Methods: This substudy of the population-based study "Epidemiology of Cardiovascular Diseases and their Risk Factors in Some Regions of the Russian Federation" (ESSE-RF) included 8461 subjects aged 25-64 years (63.

A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the , , and genes.

Time trends in smoking in Russia in the light of recent tobacco control measures: synthesis of evidence from multiple sources.

Background: The study aims at identifying long-term trends and patterns of current smoking by age, gender, and education in Russia, including the most recent period from 2008 during which tobacco control policies were implemented, and to estimate the impact on mortality of any reductions in prevalence. We present an in-depth analysis based on an unprecedentedly large array of survey data.

Methods: We examined pooled micro-data on smoking from 17 rounds of the Russian Longitudinal Monitoring Study of 1996-2016, 11 other surveys conducted in Russia in 1975-2017, and two comparator surveys from England and the USA.

Atrial fibrillation among Russian men and women aged 55 years and older: prevalence, mortality, and associations with biomarkers in a population-based study.

Objective: To examine the prevalence of atrial fibrillation (AF), its impacts on cardiovascular disease (CVD) and all-cause mortality, and the associations between AF and inflammatory and serum biomarkers in a population-based sample of Muscovites.

Methods: The study is a secondary analysis of data from the Stress, Aging and Health in Russia (SAHR) survey that includes information on 1800 individuals with an average age of 68.5 years at baseline, and on their subsequent mortality during 7.

Biobanking as a necessary tool for research in the field of personalized medicine in the scientific medical center.

The National Medical Research Center for Preventive Medicine of Russia (NMRCPM) conducts epidemiological and clinical research for the development of personalized medicine. This is why NMRCPM has faced the problem of how to standardize preanalytical conditions for all biospecimens from various scientific projects and of how to provide long-term responsible standardized regulated safe storage of blood and its derivatives. This article describes various aspects of establishing a biobank in a large medical center dedicated to integrating the biomarkers research activities of different departments.

Elevated levels of serum nitrite and nitrate, NOx, are associated with increased total and cardiovascular mortality in an 8-year follow-up study.

Background: Nitric oxide (NO) is one of the key regulators of vascular function. Abnormal NO signalling is linked to various cardiovascular diseases. We studied associations between circulating levels of NO metabolites, nitrite and nitrate (NOx) and total and cardiovascular mortality in a prospective 8-year follow-up cohort study in 1869 patients aged over 55 years.

Chronic Respiratory Diseases in the Regions of Northern Russia: Epidemiological Distinctions in the Results of a National Population Study.

Unlabelled: The aim of the study is to investigate the epidemiological situation regarding chronic respiratory diseases in populations that inhabit different climatic-geographical regions of Russia, and to develop targeted programs for prevention of these diseases.

Methods: (1) a comparative analysis of the standardized mortality data in Russia and other selected regions of the Russian North using the European standard for respiratory diseases, in a population aged 25-64; and (2) data from a randomized cross-sectional epidemiological study, with subjects from three different climatic-geographical regions of Russia.

Results: (1) the respiratory disease-related mortality rates in the majority of Russian Northern regions were much higher compared to the national average.