Research Results in Biomedicine

Anastasia V. Ponasenko, Anna V. Sinitskaya, Maria V. Khutornaya, Maxim Yu. Sinitsky, Maxim A. Asanov, Alena O. Poddubnyak

Background: Metabolic syndrome (MS) and its components are the reasons of the development and progression of cardiovascular diseases. Nowadays, the association between coronary artery disease and MS ...

Genetic variant **rs11568818 of matrix metalloproteinase MMP7 associated with newborn weight in pregnant women with fetal growth restriction**

Yuliya N. Reshetnikova, Irina V. Ponomarenko, Vladimir I. Churnosov, Marina S. Ponomarenko, Evgeny A. Reshetnikov

Background: Fetal growth restriction is a common complication of pregnancy that has been associated with a variety of adverse perinatal outcomes. The condition carries significant risks of ...

HSPD1 gene polymorphism is associated with an increased risk of ischemic stroke in smokers

Tatiana A. Stetskaya, Ksenia A. Kobzeva, Sergey M. Zaytsev, Irina V. Shilenok, Galina V. Komkova, Natalia V. Goryainova, Olga Yu. Bushueva

Background: Ischemic stroke (IS) is a leading cause of death and disability worldwide. Since the influence of vascular stressors prompts cross-reactivity with microbial and human HSPD1 (HSP60), which ...

Search for molecular markers of joint hypermobility

Karina E. Akhiiarova, Rita I. Khusainova, Bulat I. Yalaev, Anton V. Tyurin

Background: Joint hypermobility (JH) is a condition that can be either benign or accompanied by pain and early development of osteoarthritis. For early verification of the risk of ...

Retroelements in targeted antitumor therapy (review)

Rustam N. Mustafin, Elza K. Khusnutdinova

Background: Pathological expression of retroelements is determined in most malignant tumors, which reflects the pathogenesis of tumors, since activated retrotransposons cause genomic instability due to a cascade of mutual ...

Mendelian randomization in eye disorders (review)

Denis Y. Plotnikov, Liana Sh. Ashryatova, Sofya A. Pankratova

Background: Mendelian randomization (MR) is an analytic approach in genetic epidemiology which uses the results of genome-wide association studies (GWAS) to assess causal relationships between various risk ...

Sex-specific features of interlocus interactions determining susceptibility to hypertension

Tatyana A. Ivanova

Background: Hypertension (HT) belongs to a group of widespread diseases in both men and women, but at the same time the disease is more often registered (≈20%) ...

**Features of associations of SHBG-related genes with breast cancer in women, depending on the presence of hereditary burden and mutations in the BRCA1/CHEK2 genes**

Konstantin N. Pasenov

Background: One of the most common diseases of the female population is breast cancer (BC), which is a hormone-dependent pathology and has a significant hereditary component. Candidate ...

Clinical and genetic characteristics of cystic fibrosis in the Republic of Bashkortostan

Guzel R. Ayupova, Rita I. Khusainova

Background: According to estimates of the World Health Organization, 40-50 thousand children worldwide are born each year with cystic fibrosis (CF), a monogenic disease with genetic heterogeneity and ...

**The link of single nucleotide polymorphism rs4880 of the SOD2 gene to the development of microvascular complications of type 2 diabetes mellitus**

Iuliia E. Azarova, Anastasia V. Gureeva, Mariia I. Postnikova, Victor V. Makarenko, Elena Yu. Klyosova, Alexei V. Polonikov

Background: The superoxide dismutase 2 (SOD2) gene encodes a mitochondrial enzyme whose main function is to convert superoxide anion to hydrogen peroxide. A genetically determined decrease in the ...

Study of microbiome aberrations in patients with irritable bowel syndrome with diarrhea by next-generation sequencing

Yuliya D. Smirnova, Mariya V. Gryaznova, Inna Yu. Burakova, Mikhail Yu. Syromyatnikov, Tatyana N. Sviridova, Olga P. Lebedeva, Alexander Y. Maslov, Vasily N. Popov

Background: Irritable bowel syndrome (IBS) is a common functional disorder of the gastrointestinal tract (GIT). Despite the prevalence of this disease, our understanding of the etiology remains limited. ...

NOS3 gene polymorphism variants and main characteristics of heart rate variability in Northerners

Irina N. Bezmenova, Inessa V. Averyanova

Background: Heart rate variability as a demonstration of autonomic nervous system function reflects human health and well-being. By monitoring heart rate variability indices and focusing on the imbalance ...

Prospects for the investigation of retroelements for COVID-19 therapy (review)

Rustam N. Mustafin, Elza K. Khusnutdinova

Background: The search for methods to detect COVID-19 using genetic advances can become the basis for an effective fight against this viral infection. Targeted therapy using non-coding RNAs ...

Associations of polymorphic variants of candidate genes with the development of ***H. pylori*-negative duodenal ulcer in residents of the Central Chernozem region of Russia**

Olga V. Rashina

Background: Peptic ulcer disease (PUD) is a chronic recurrent disease that occurs with alternating periods of exacerbation and remission, the leading manifestation of which is the formation of a ...

The role of DNA methylation in lung cancer (review)

Aigul R. Nizamova, Galiya F. Gimalova, Elza K. Khusnutdinova

Background: Lung cancer has been a difficult-to-treat disease for decades, despite the efforts of oncologists and pharmaceutical companies. One of the reasons for this is the heterogeneity of the ...

Analysis of polymorphic variants of serotonin and gamma-aminobutyric acid receptor genes in patients with type 2 diabetes mellitus

Olga V. Kochetova, Diana Sh. Avsaleydiniva, Gulnaz F. Korytina, Tatiana V. Viktorova

Background: Type 2 diabetes mellitus (T2DM) is an expanding global health problem of the 21st century. There has been a global increase in the number of patients with T2DM. ...

Outcomes of ROHs (runs of homozygosity)/LCSHs (long contiguous stretches of homozygosity) spanning the imprinted loci of chromosomes 7, 11 and 15 among children with neurodevelopmental disorders