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.

In search for new targets for obesity treatment, we have studied the effect of several transcription factors on the conversion of murine preadipocytes from the 3T3-L1 cell line into adipocytes. We have found that knockdown of Prep1 gene expression affects adipogenic differentiation and results in significant increase in the insulin-sensitive glucose carrier Glut4 gene expression.

BACKGROUND:Low adiponectin concentration observed in obese patients is associated with a high risk of metabolic disorders and cardiovascular diseases and could be related to single nucleotide polymorphisms (SNPs) in T-cadherin gene (CDH13). T-cadherin is a receptor for adiponectin and low-density lipoprotein. Aim of this study was to investigate association of CDH13 SNPs with the development of obesity in patients with ischemic heart disease (IHD).RESULTS:We established a statistically significant correlation between the number of minor alleles of rs11646213, rs4783244 and rs12444338 in CDH13 gene with body mass index: patients with smaller number of minor alleles tended to have normal body weight (odds ratio 3.03, 95% confidence interval 1.03-8.87).CONCLUSION:The obtained results are indicative of the cumulative effect of SNPs in CDH13 (rs11646213, rs4783244, rs12444338) on BMI in patients with IHD.

Aim. Circulating progenitor endothelial cells (CPCs) play an important role in the regeneration of damaged vascular endothelium. We aimed to study the effect of type 1 diabetes mellitus (DM) on the number of different lines of CPCs.Methods. The number of different lines of CPCs was evaluated by flow cytometry in 45 patients with type 1 DM (mean age: 26,6 +/- 6,5 years) of different duration and 14 healthy volunteers.Results: The number of CPCs in the peripheral blood flow of patients with type 1 DM was significanlty reduced compared with that in healthy volunteers and had a reliable inverse correlation with glycated haemoglobin (HbA(1c)).Conclusions: The number of CPCs in the peripheral blood flow of patients with type 1 DM depended on the level of DM compensation. Of the different lines of CPCs, Lin-CD34(+)cells were significantly reduced by 42% (p= 0,006), Lin-CD34(+)c-Kit-cells by 42% (p= 0,007) and Lin-CD34(+)c-Kit(+) cells by 41% (p= 0,022). Thus, the number of CPCs in the peripheral blood of patients with type 1 DM is reduced with higher levels of HbA(1c).

Aim. To evaluate the plasma level of circulating heptocyte growth factor (HGF) in patients with comorbidity of post-infarction chronic heart failure (CHF), type 2 diabetes mellitus (T2DM) and obesity. We also aimed to assess possible correlations between HGF levels and parameters of carbohydrate and lipid metabolism, as well as myocardial functional characteristics and classic biochemical severity markers for CHF.17Сахар ный диабет КардиологияСахарный диабет. 2013;(2):17?25Materials and methods. We enrolled 100 patients for participation in this study, including the following subgroups: 20 individuals with- out cardiovascular and glycemic disorders, 30 patients with CHF, 25 patients with CHF/T2DM comorbidity and 25 diabetic patients with no signs of heart failure. Quantitative plasma HGF analysis was performed with enzyme-linked immunosorbent assay (ELISA). Results. Plasma HGF was elevated both in patients with CHF and T2DM as measured against healthy control group. The elevation was most prominent in patients with CHF/T2DM comorbidity and was found to correlate with HbA 1c level (r=0.52, p=0.03). Plasma HGF also correlated with BMI (r=0.42, p=0007) in a unified study group, though we observed no statistically significant difference between subgroups with a trend toward higher HGF in obese patients with CHF/T2DM comorbidity (626.1?254.1 pg/ml vs 742.0?210.7 pg/ml respectively; p >0.05). Interestingly, plasma HGF was also significantly higher in controls with BMI >30 km/m2 (324.1?107.7 pg/ml vs 436.9?112.3 pg/ml, p=0.03).Circulating HGF correlated with plasma levels of N-terminal fragment of B-type natriuretic peptide (NT-proBNP) and such structural and functional myocardial characteristics as left atrial size and maximum volume along with left ventricular ejection fraction (EF), end-diastolic volume (EDV) and end-diastolic dimension (EDD). Conclusion. These findings suggest that HGF may potentially serve as a prediction marker for unfavorable myocardial remodeling and poor prognosis in CHF patients with T2DM and obesity, though this possibility should be further investigated in follow-up studies.