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Study of the Association of Polymorphic Variants rs2295080 and rs1883965 of the MTOR Gene with the Development of Pulmonary Sarcoidosis
AbstractThe aim of the study was to study the association of polymorphic variants rs2295080 and rs1883965 of the MTOR gene with the risk of...
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Association of Polymorphic Variants of TCF7L2 and PPARG Genes with Metabolic Markers in Patients with Early Disorders of Carbohydrate Metabolism
We performed complex analysis of the association of polymorphic variants rs7903146 of the TCF7L2 gene and rs1801282 of the PPARG gene with metabolic...
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The Role of rs2238296 of the Mitochondrial DNA Polymerase Gamma Gene in Combination with Polymorphic Variants of Antioxidant Defense Genes in the Development of Postinfarction Left Ventricular Aneurysm
AbstractThe relationship of the polymorphic variant of the mitochondrial DNA polymerase gamma gene ( POLG rs2238296) was studied in combination with...
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The Role of Polymorphic Variants of Gene Components of the PTEN/PI3K/AKT Signaling Pathway in the Development of Prostate Cancer
AbstractThe aim of this study was to search for associations of genotypes and alleles of polymorphic loci of the PTEN/PI3K/AKT pathway genes...
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The Prevalence of Polymorphic Variants of ABCB1 Gene among Indigenous Populations of Siberia
AbstractWe compared the frequencies of genotypes and alleles of the C3435T and C1236T polymorphisms of the multidrug resistance gene ( ABCB1 ) among...
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Significant Functional Differences Between Dopamine D4 Receptor Polymorphic Variants Upon Heteromerization with α1A Adrenoreceptors
The functional role of the dopamine D 4 receptor (D 4 R) and its main polymorphic variants has become more evident with the demonstration of heteromers...
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The Polymorphic Locus rs167479 of the RGL3 Gene Is Associated with the Risk of Severe Preeclampsia
AbstractIn this work, the associations of polymorphism of candidate genes of arterial hypertension with the development of severe preeclampsia (PE)...
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Association Between the Endocannabinoid System-Related Gene Variants and Epilepsy
The endocannabinoid system (ECS) is an intricate network consisting of receptors, enzymes, and endogenous ligands that play a pivotal role in various...
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Genome-Wide Association Study: Analysis of Association of Polymorphic Loci in 4p15.2 and 20q13.31 Regions with Paranoid Schizophrenia
AbstractOver fifteen years, genome-wide association studies (GWAS) have identified several million polymorphic risk markers for schizophrenia,...
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MTNR1A and MTNR1B Gene Variants of the Melatonin Receptor and Arterial Stiffness in Persons without Arterial Hypertension
A comparative analysis of vascular stiffness indices and the results of blood test was carried out in 85 healthy donors aged 19-64 years, carriers of...
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GTPγS Assay for Measuring Agonist-Induced Desensitization of Two Human Polymorphic Alpha2B-Adrenoceptor Variants
α2-Adrenergic receptors (ARs) mediate many cellular actions of epinephrine and norepinephrine, including inhibition of their secretion (sympathetic...
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Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension
BackgroundA dysfunction of NADH dehydrogenase, the mitochondrial Complex I (CI), associated with the development of left ventricular hypertrophy...
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Polymorphic Variants of the Neutrophil Cytosolic Factor 2 Gene: Associations with Susceptibility to Type 2 Diabetes Mellitus and Cardiovascular Autonomic Neuropathy
AbstractWe examined 3206 unrelated individuals of Slavic origin (1579 T2DM patients, including 535 patients with cardiovascular autonomic neuropathy,...
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Association of Four VEGFA Gene Variants with Rheumatoid Arthritis Risk: A Meta-analysis and Trial Sequential Analysis
The association between rheumatoid arthritis (RA) risk and specific variants of the Vascular Endothelial Growth Factor A ( VEGFA ) gene remains...
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Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability
In Kazakhstan, there is insufficient data on genetic epilepsy, which has its own clinical and management implications. Thus, this study aimed to use...
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The burden of rare variants in DPYS gene is a novel predictor of the risk of develo** severe fluoropyrimidine-related toxicity
BackgroundDespite a growing number of publications highlighting the potential impact on the therapy outcome, rare genetic variants (minor allele...
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Indicators of Immune and Neurohumoral Profile in Women of Fertile Age with Functional Disorders of the Autonomic Nervous System Associated with Polymorphic Variants of the HTR2A (rs7997012) and TP53 (rs1042522) Genes
In women of fertile age with functional disorders of the autonomic nervous system (ANS), a complex of indicators of the immune and neurohumoral...
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Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson’s Disease in Italian Patients
Parkinson’s disease (PD) represents the most common neurodegenerative movement disorder. We recently identified 16 novel genes associated with PD. In...
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Severity of Schistosoma haematobium co-infection with malaria in school-children is potentially modulated by host CD14 gene variants
ObjectiveSchistosomiasis remains a chronic disease of global importance, especially in many rural areas of the world where co-infection with Plasmodiu...
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Influence of Polymorphic Gene Variants of the Dopaminergic System on the Risk of Disorders with Depressive Symptoms
AbstractDepression is characterized by extremely high clinical heterogeneity. Only a few of the many symptoms of depression may overlap in different...