Genome diversity in Ukraine.

BACKGROUND: The main goal of this collaborative effort is to provide genome-wide data for the previously underrepresented population in Eastern Europe, and to provide cross-validation of the data from genome sequences and genotypes of the same individuals acquired by different technologies. We collected 97 genome-grade DNA samples from consented individuals representing major regions of Ukraine that were consented for public data release. BGISEQ-500 sequence data and genotypes by an Illumina GWAS chip were cross-validated on multiple samples and additionally referenced to 1 sample that has been resequenced by Illumina NovaSeq6000 S4 at high coverage. RESULTS: The genome data have been searched for genomic variation represented in this population, and a number of variants have been reported: large structural variants, indels, copy number variations, single-nucletide polymorphisms, and microsatellites. To our knowledge, this study provides the largest to-date survey of genetic variation in Ukraine, creating a public reference resource aiming to provide data for medical research in a large understudied population. CONCLUSIONS: Our results indicate that the genetic diversity of the Ukrainian population is uniquely shaped by evolutionary and demographic forces and cannot be ignored in future genetic and biomedical studies. These data will contribute a wealth of new information bringing forth a wealth of novel, endemic and medically related alleles.

Hepcidin and Iron Homeostasis in Patients with Subacute Thyroiditis and Healthy Subjects.

PURPOSE: Hepcidin is an acute-phase protein involved also in regulation of iron homeostasis. The aim of the study was to prospectively assess for the first time the hepcidinEL concentration in patients with subacute thyroiditis (SAT), to identify biochemical determinants of hepcidinEL concentration and evaluate the potential role of hepcidin in SAT diagnosis and monitoring. METHODS: Out of 40 patients with SAT initially recruited, restrictive inclusion criteria fulfilled 21 subjects aged 45 ± 10 years and 21 healthy control subjects (CS). HepcidinEL concentration, thyroid status, and iron homeostasis were evaluated at SAT diagnosis and following therapy and compared with CS. RESULTS: The median hepcidinEL concentration at SAT diagnosis is higher than that in CS (48.8 (15.9-74.5) ng/mL vs. 18.2 (10.2-23.3) ng/mL, p = 0.009) and is significantly lower after treatment (4.0 (1.2-10.0) ng/mL, p = 0.007) compared with CS. The ROC analysis for hepcidinEL at SAT diagnosis revealed that area under the curve (AUC) is 0.735 (p = 0.009), and the cut-off for hepcidinEL concentration is 48.8 ng/mL (sensitivity 0.52 and specificity 0.95). HepcidinEL in SAT patients correlated with CRP (r = 0.614, p = 0.003), ferritin (r = 0.815, p < 0.001), and aTPO (r = -0.491, p = 0.024). On multiple regression, the correlation between hepcidinEL and ferritin was confirmed (p < 0.001). CONCLUSIONS: SAT is accompanied by a significant increase in hepcidin, which reflects an acute-phase inflammatory process. Parameters of iron homeostasis improved significantly while inflammatory indices got lower following recovery. The potential role of hepcidin as a predictive factor of the risk of SAT relapse needs to be assessed in studies on larger groups of SAT patients.

Adropin in women with polycystic ovary syndrome.

INTRODUCTION: Women with polycystic ovary syndrome (PCOS) frequently develop metabolic complications. Among the newly found factors responsible for metabolic disorders, adropin seems to be of a great significance. MATERIAL AND METHODS: In total 134 women aged 17-45 years were enrolled. The PCOS group consisted of 73 women, diagnosed on the basis of Executive Committee of the European Society of Human Reproduction and Embryology - American Society for Reproductive Medicine (ESHRE-ASRM) criteria. All PCOS women presented phenotype A of PCOS. The control group consisted of 61 women with regular menstrual cycles, matched for nutritional status. All women underwent anamnesis, physical examination, anthropometric measurements, abdominal and transvaginal ultrasound, and dual-energy X-ray absorptiometry (DXA). Serum adropin levels were determined by ELISA. Biochemical [fasting glucose and insulin, oral glucose tolerance test, lipid and sex hormone-binding globulin (SHBG)] and hormonal (testosterone, androstenedione, luteinizing hormone, follicle-stimulating hormone and oestradiol) measurements were performed. Insulin resistance indices [(Homeostasis Model Assessment for Insulin Resistance (HOMA-IR), Quantitative Insulin Sensitivity Check Index (QUICKI), Matsuda] and free androgen index (FAI) were calculated according to the standard formula. RESULTS: Serum adropin levels were lower in the PCOS group (0.475 ± 0.200 vs. 0.541 ± 0.220, p = 0.069), but the results were not statistically significant. Positive correlations among adropin and androstenedione levels were observed in the PCOS group (r = 0.27, p = 0.025). CONCLUSIONS: Women with PCOS have a different metabolic profile in comparison to women without this syndrome. We did not observe a statistically significant difference in adropin concentration between the PCOS and the healthy control group. Therefore, more studies regarding adropin in PCOS are needed.

Correlation between adipokines and mediators of non-specific inflammation in type 2 diabetic patients depending on the glycaemic control.

OBJECTIVE: Introduction: The relationship between glycaemic control in type 2 diabetes and the risk of its complications has been proven in many studies. However, the role of adipose tissue hormones and non-specific inflammatory mediators in type 2 diabetes compensation has not been studied completely. The aim: To evaluate the correlation between the content of selected adipose tissue hormones and mediators of nonspecific inflammation, depending on the glycemic control in type 2 diabetes. PATIENTS AND METHODS: Materials and methods: the study has been focused on the analysis of contents and correlations between leptin, resistin, IL-2, IL-6, TNF-α in 305 patients with type 2 diabetes, who were divided into the following groups (according to their glycemic control): group 1 - with optimal glycaemic control (HbA1c ≤ 7%), group 2 - with suboptimal glycaemic control (HbA1c 7.1-8%), and group 3 - with poor glycaemic control (HbA1c ≥ 8.1%). RESULTS: Results: the group of type 2 diabetic patients with poor glycaemic control showed a higher resistin level compared with the patients with optimal (+29.43%; <0.05) and suboptimal glycaemic control (+33.45%, < 0.05). Statistically, when comparing groups of type 2 diabetic patients with the different glycaemic control we have noticed no significant changes in the leptin concentration (all > 0.05). The level of circulating insulin was significantly lower in the group of type 2 diabetic patients with poor glycemic control of diabetes, compared to those with suboptimal glycaemic control (-20.87%; <0.05). CONCLUSION: Conclusions: In patients with type 2 diabetes an impaired glycaemic control does not influence the leptin level. Though impaired glycaemic control significantly raises resistin level in the blood serum. Studying the concentration of cytokines (TNF-α, IL-2 and IL-6) in the blood serum of type 2 diabetic patients showed that glycaemic control does not provoke any significant differences in their content. The study has proved that resistin is more closely interconnected to cytokines in case of worsening the diabetes compensation - there has been found a significant positive correlation between the content of TNF-α and resistin in the group with optimal glycaemic control, then between IL-6 and resistin in the group with suboptimal glycaemic control; and in the group with unsatisfactory glycaemic control there has been detected a correlation between TNF-α, IL-2, IL-6 and resistin.

Prognosis of ischaemic heart disease in patients with newly diagnosed dm type 2 by logistic regression.

OBJECTIVE: Introduction: Diabetes Mellitus (DM) type 2 is an important medical and social problem all around the world. One of the most serious and widespread complications of DM type 2 is a damage to the cardiovascular system. The aim was to study the way of how to predict the IHD development in patients with the newly diagnosed DM type 2 by building a mathematical model with the help of statistical method, in particular, a logistic regression, which allows predicting the occurrence of IHD by the levels of proven biochemical and anthropometric indices. This method serves to determine the connection and enables predicting the value of one dependent variable based on the value of other (independent) variables. PATIENTS AND METHODS: Materials and methods: We have examined 40 patients with newly diagnosed DM type 2, who at the moment of the study did not have any cardio-vascular pathology. All patients were checked twice (at the moment of examination and 12 months after) for their age, body mass index (BMI), waist / hip ratio, levels of leptin, resistin, sP-selectin, interleukin (IL) -2, IL-6, tumour necrotic factor--α (TNF), glycated haemoglobin (HbA1c), insulin, C-peptide, total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), non-esterified fatty acids (NEFA) . RESULTS: Results and conclusions: Mathematical prediction allowed finding out the patients with the high tendency to developing an adverse outcome. This information is of great practical importance from a medical, social and economic point of view since it allows the physician to prevent these diseases before their onset.