Significance of the results of genome-wide association studies for primary prevention of type 2 diabetes mellitus and its complications. Personalised approach

Dedov, Ivan I.; Иванович, Дедов Иван; Smirnova, Olga Mikhailovna; Михайловна, Смирнова Ольга; Кононенко, Ирина Владимировна; Владимировна, Кононенко Ирина

doi:10.14341/dm2014210-19

Cited by 6 publications

(4 citation statements)

References 39 publications

(45 reference statements)

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“…Существенное влияние на реализацию функций множества вовлеченных генов и тесное взаимодействие между ними оказывают внешние воздействия. К основным ха-рактеристикам генетики СД2 относятся неустойчивая пенетрантность (от 10 до 40%) и высокая частота аллелей со слабым или средним эффектом предрасположенности к заболеванию (отношение шансов от 1,1 до 1,5) [1].…”

Section: актуальностьunclassified

Genetic Variants Associated with the Development of Type 2 Diabetes: Approaches to Their Identification

et al. 2019

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In the development of type 2 diabetes (T2D), an important role is played by a combination of environmental factors (hypodynamia, hypernutrition, etc.) and genetic variants that predispose the development of the disease. The contribution of inherited traits to the development of T2D can reach 80%, which is confirmed by the results of a number of published studies. At the same time, the multifactorial and polygenetic nature of T2D makes it difficult to establish direct cause-effect relations between individual genetic variants and specific metabolic changes. This explains a large number of studies and a long ongoing search for the most convenient and effective strategy for assessing the role of single nucleotide polymorphisms (SNP), the main type of genetic variation in the human genome. Involvement of specialists from various fields and the emergence of many methods for processing and interpreting data have led to the parallel development of scientific approaches. In this review of the main approaches (except mathematical ones) their characteristics will be described and the results obtained with their help will be evaluated, with special focus on new features of modern methods of genome editing, in particular the CRISPR/Cas9 system, and the future prospects in this area.

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Section: актуальностьunclassified

Genetic Variants Associated with the Development of Type 2 Diabetes: Approaches to Their Identification

et al. 2019

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“…О р и г и н а л ь н ы е р а б о т ы С ахарный диабет 2 типа (СД2) является важнейшей медицинской проблемой мирового масштаба, что обусловлено его неуклонно растущей распространенностью в сочетании с большой частотой и тяжестью поздних сосудистых осложнений [1,2]. Прогрессированию СД2 способствует характерный для данной категории больных дефицит ряда микронутриентов [3,4], играющих важную роль в метаболизме глюкозы и инсулина.…”

Section: ожирение и метаболизмunclassified

Study of micronutrient status of patients with obesity and diabetes mellitus type 2 based on molecular genetics analysis

Лапик¹,

Gapparova²,

Grigoryan³

et al. 2015

Obes. metabol.

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Introduction. Type 2 diabetes mellitus (type 2) is a major health problem worldwide. The progression of type 2 diabetes is contributed by usual for this patient group number of micronutrient deficiencies.Aim. To study the micronutrient status in patients with type 2 diabetes and obesity on the basis of molecular genetic studies.Materials and methods. The study involved 80 women with type 2 diabetes and obesity of I-II degree. All patients were tested for vitamin C, B6, B12, folate, a 25-hydroxyvitamin D, as well as potassium, magnesium, calcium, zinc and phosphorus in serum. DNA was isolated from blood by standard method using multicomponent lysis solution. Genotyping was performed using allele-specific amplification detection results in real time.Results. Comparative analysis of the manifestations of the polymorphic marker rs659366 UCP2 gene in patients with type 2 diabetes and obesity showed that the genotype of T/T and C/T is characterized by a low content of vitamin C in the serum than genotype of C/C. Polymorphism rs1801133 of MTHFR gene in patients with type 2 diabetes and obesity revealed that genotype C/T and T/T showed a lower content of vitamins B6, B12, folate in serum as compared with those indices in genotype C/C.Conclusion. The recommendation of vitamin-mineral complexes to patients with type 2 diabetes and obesity should be quided by molecular genetic studies, which might individually appoint the necessary micronutrients to improve the metabolic performance and reduce the risk of vascular complications in these patients.

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“…Genome-wide association studies (GWAS) are the basis for the search for candidate genes for monogenic and multifactorial diseases, including allergic diseases, coronary heart disease, vascular diseases, and others. In some cases, GWAS results allow for not only the understanding of the pathophysiological basis of diseases, but can also serve as an impetus for the creation of new therapeutic agents and drugs [4]. Predicting the occurrence of allergic manifestations can help prevent the spread in high-risk individuals.…”

Section: Introductionmentioning

confidence: 99%

A genome-wide association study for different types allergic diseases

Altynova

Khamdiyeva

Zhaniyazov

et al. 2022

ijbch

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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).

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Significance of the results of genome-wide association studies for primary prevention of type 2 diabetes mellitus and its complications. Personalised approach

Cited by 6 publications

References 39 publications

Genetic Variants Associated with the Development of Type 2 Diabetes: Approaches to Their Identification

Genetic Variants Associated with the Development of Type 2 Diabetes: Approaches to Their Identification

Study of micronutrient status of patients with obesity and diabetes mellitus type 2 based on molecular genetics analysis

A genome-wide association study for different types allergic diseases

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