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All over the world, there is an active search for genes that are responsible for the formation of predisposition to allergic diseases, which is associated both with the undoubted relevance of studying risk factors for the development of allergies, and with the emergence of new opportunities for genetic research. In addition, anthropogenic impact can cause allergic reactions and modifications in the functions of antioxidant defense cells and the immune system. Due to the fact that in the cohort of the population of Almaty and the Almaty region (going forward we will say Almaty to include the region also), respiratory diseases with an allergic component, such as bronchial asthma, bronchitis, allergic rhinitis, are common, we consider it is appropriate to conduct an epidemiological study of candidate genes for allergic diseases – cytokines and their receptors (IL4, IL4RA, IL12B, IL13, TNFA, CCL5), adrenoreceptor (ADRB2), transcription factors involved in T-lymphocyte differentiation (STAT6, GATA3, TBX21), major histocompatibility complex (HLA-DRB1, HLA-DQB1). The aim of our study is to conduct genome-wide genotyping in people with allergic diseases and to search for marker genes that affect the risk of developing allergies as well as to identify genes that are involved in the pathogenesis of allergic diseases. We performed genome-wide microarray genotyping of 25355 SNPs on the iScan platform of 103 samples with allergic diseases and 108 control DNA samples using the kit (Infinium® ImmunoArray24- v2.0 BeadChip Kit). The results obtained, using the GWAS analysis, which considers numerous polymorphisms, showed the involvement of some genes in the development of allergic diseases (rs20541-asthma, allergic rhinitis, rs841718-atopic dermatitis, rs3212227-immunodeficiency). [ABSTRACT FROM AUTHOR]

The study utilized molecular-genetic, cytogenetic, and statistical analyzes methods. A cytogenetic and molecular genetic analysis of the inhabitants of the villages of Amangeldy, Belbulak, in whose territory warehouses of unused pesticides are located, was carried out. Residents of the Basshi village, on the territory of which there are no products of disposal of pesticides, were taken as control. Cytogenetic analysis showed a high level of chromosomal aberrations for the inhabitants of the Belbulak village, an increased level for the inhabitants of the Amangeldy village and a low level in the Basshi cohort. Molecular genetic analysis did not reveal a significant correlation between the polymorphisms of the XRCC1 Arg194Trp, XRCC3 Thr241Met and XPD Lys751Gln genes and the frequency of chromosomal aberrations. However, study determined the associative relationship of the polymorphism of the DNA repair gene XRCC1 Arg399Gln with the development of cardiovascular diseases in a population living near foci of pesticidal contamination. [ABSTRACT FROM AUTHOR]

Epilepsy is a common manifestation of mitochondrial disorders, in addition mitochondrial oxidative stress may play an important role in epileptogenesis since it affects the excitability of neurons. Mitochondrial diseases are often difficult to diagnose unless the symptoms are clearly identified as a part of a specific mitochondrial mutation. The use of next-generation sequencing would lead to the rapid identification of genes associated with epilepsy syndromes. In this study, we evaluate the applicability of the NGS method for diagnosis of mitochondrial epilepsy by clinicians and laboratories in Kazakhstan. We performed complete mitochondrial genome sequencing on the Illumina MiSeq platform for 6 patients with epilepsy. Using the MITOMAP and HmtDB databases, we identified three pathogenic variants (MT-ND1 m.3697G> A, m.5628T> C and m.7547T> C) leading to the development of epilepsy, additionally we found 6 variable sites (m.5586C> T, m.10095C> T, 514_515delCA, 16180_16181delAA, C514.CACACA, A955. ACCCC), the clinic of which was not previously mentioned in the literature. Our preliminary study suggests that mitochondrial genes potentially play a role in the pathogenesis of epilepsy and mutations in these genes cause various forms of epilepsy. It is necessary to elucidate the main mechanisms and participation of variants of mtDNA haplogroups in the development of epilepsy to apply the NGS method in diagnosis of mitochondrial epilepsy. [ABSTRACT FROM AUTHOR]