Genetics
Study of the cytokine genes SNPs association with the characteristics of the immunological status of children with recurrent respiratory infection
Volume 8, Issue №3, 2022
Background: Herpesvirus infections are one of the most common human infections that play a special role in children with recurrent respiratory infection cohort formation. The immunological status of ...
C9orf16(BBLN) gene, encoding a member of Hero proteins, is a novel marker in ischemic stroke risk
Volume 8, Issue №3, 2022
Background: Ischemic stroke (IS) is the leading cause of death and disability worldwide. Chaperone proteins protect brain cells from the ischemic damage by restoring the structures of damaged proteins. ...
Genetic markers of severe preeclampsia
Volume 8, Issue №3, 2022
Background: In modern medicine, close attention is paid to the issues of reducing maternal morbidity and mortality, to the structure of which hypertensive disorders of gestation, especially ...
Genetic variation of ERN1 and susceptibility to type 2 diabetes
Volume 8, Issue №3, 2022
Background: The endoribonuclease IRE1 (ERN1) is an important sensor for the endoplasmic reticulum unfolded protein response (UPR), and its activation happens as a result of the accumulation of ...
The role of highly penetrant mutations in BRCA1 and CHEK2 genes in the pattern of associations of matrix metalloproteinase gene polymorphisms with breast cancer
Volume 8, Issue №2, 2022
Background: Breast cancer (BC) is a malignant breast tumor, which occupies a leading place both in the structure of oncological diseases in women and among the causes ...
The association of inflammatory status and immunological parameters with single-nucleotide polymorphisms of cytokine and Toll-like receptor genes in patients with schizophrenia
Volume 8, Issue №2, 2022
Background: Schizophrenia is a multifactorial and clinically polymorphic disease with a significant hereditary component. The study of the influence of functionally significant polymorphisms of the genes regulating ...
Germline mutations as possible biomarkers of immune checkpoint inhibitor therapy efficacy in patients with renal cell carcinoma (mini review)
Volume 8, Issue №2, 2022
Background: The use of immune checkpoint inhibitors (ICIs) is a promising therapy in cancer treatment, in particular renal cell carcinoma (RCC). Despite the revolutionary breakthrough in cancer ...
Association of polymorphism rs10841855 in the glycogen synthase 2 gene with hypercholesterolemia and type 2 diabetes mellitus
Volume 8, Issue №2, 2022
Background: Glycogen synthase 2 (GYS2) catalyzes a key step in glycogenesis in the liver. Loss-of-function mutations in the GYS2 gene are associated with type 0a glycogenosis with characteristic ...
Epigenetic and genomic mechanisms in the pathogenesis of posttraumatic stress disorder (review)
Volume 8, Issue №1, 2022
Background: Posttraumatic stress disorder is one of the most prominent examples of gene-environment interactions. Psychological traumatization is a dominant, but not the only etiological factor. Over the ...
Expression of stem cell markers in meningioma among Sudanese patients
Volume 8, Issue №1, 2022
Background: Meningioma is the second most common primary intracranial tumor of the central nervous system, surgical total excision of meningioma offers a better survival to patients; however, a ...
Studying the role of interlocus interactions of folate cycle genes and matrix metalloproteinases in the formation of fetal growth retardation
Volume 8, Issue №1, 2022
Background: Fetal growth retardation (FGR) is one of the most common pregnancy complications that can adversely affect the short- and long-term health of newborns. The search for ...
Essentially pure partial trisomy 6(p21.31-p25) (case report and literature review)
Volume 7, Issue №4, 2021
Background: In reviewed literature, several patients with duplication or partial trisomy of the 6p region have been described. Most of these cases are associated with a partial monosomy ...
Ovarian cancer as part of hereditary cancer syndromes (review)
Volume 7, Issue №4, 2021
Background: Hereditary forms of ovarian cancer (OC) account for more than one fifth of cases of malignant neoplasms of this localization. The discovery of new molecular genetic ...
Interrelation of IL1B and IL6 genes polymorphism with blood eosinophilia and histological picture of polyps in patients with chronic polypous rhinosinusitis
Volume 7, Issue №4, 2021
Background: The problem of chronic polyposis rhinosinusitis is one of the most common diseases in modern otorhinolaryngology with an etiopathogenesis that is not fully understood. A widely ...
Analysis of the level of population endogamia as the basis of population-genetic and medical-genetic studies
Volume 7, Issue №4, 2021
Background: When conducting population-genetic and genetic-epidemiological studies, the endogamy index should be taken into account to assess the level of the elementary population, characteristics of the migration ...
Chromosome 18p deletion syndrome (18p-) in children: the value of cytogenetic and molecular cytogenetic diagnosis
Volume 7, Issue №3, 2021
Background: Chromosome 18p deletion syndrome (18p-) is associated with a loss of chromosomal material of the short arm (partial monosomy); however, the whole short arm is lost in ...
The association study of polymorphic variants of hypothalamic-pituitary-adrenal system genes (AVPR1B, OXTR) and aggressive behavior manifestation: a focus on social environment
Volume 7, Issue №3, 2021
Background: Aggressive behavior (AB) represents an important social problem, which results in significant costs for the society. A significant role in developing aggression is suggested to be mediated ...
The relationship between polymorphism rs12449964 of the phosphatidylethanolamine-N-methyltransferase gene and hypertriglyceridemia and obesity in patients with type 2 diabetes
Volume 7, Issue №3, 2021
Background: Phosphatidylethanolamine N-methyltransferase (PEMT) is the enzyme of lipid metabolism that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine in a series of three methylation reactions. Low activity of ...
About the origin of the acrocentric part of non-acrocentric satellited chromosomes in humans
Volume 7, Issue №3, 2021
Background: Variants in size of the acrocentric short arms (acro-ps) are normally not reported and considered as chromosomal heteromorphisms (CHMs) without any influence on the carrier’s phenotype. However, ...
Integrated in-depth bioinformatic analysis suggests RELCH/KIAA1468, LINC02341, and AKAP11 as candidate genes for ages at menarche and menopause
Volume 7, Issue №3, 2021
Background: Polymorphisms of the TNFRSF11A and TNFSF11 genes were reported for their association with age at menarche (AAM) and age at natural menopause (ANM). However, the biological ...
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