Aim. To study associations of rs2464196 and rs11212617 polymorphisms with the development of myocardial infarction (MI) in combination with type 2 diabetes (T2D).Material and methods. The study included two groups: main group (n=115) — patients with prior myocardial infarction and T2D, comparison group (n=116) — patients with myocardial infarction without T2D, hospitalized from December 1, 2018 to December 31, 2019 at the Regional Vascular Center № 1 of the City Clinical Hospital № 1. Participants were comparable in sex and age. Patients underwent clinical and instrumental investigations, a genetic test for single nucleotide polymorphisms, which showed associations with the development of MI and T2D according to genome-wide association study (GWAS): rs2464196 of the HNF1A gene, rs11212617 of the ATM gene.Results. Carriage of the AA genotype of the HNF1A rs2464196 polymorphism was found to be associated MI in combination with T2D in the general group (odds ratio (OR), 3,180, 95% confidence interval (CI), 1,206-8,387, p=0,015). After division of the group by sex, significant differences remained only in women (OR=9,706, 95% CI, 1,188-79,325, p=0,011).Conclusion. The data obtained can make it possible to identify a priority group of patients for personalized prevention of cardiovascular diseases.
Purpose of research. Study of the frequency of detection of mutations in the α1 -antitrypsin SERPINA1 gene in non-alcoholic fatty liver disease (NAFLD) in comparison with individuals from the General population and assessment of features of metabolic disorders.Materials and methods. 439 people were examined, including 114 patients with NAFLD and 325 individuals in the General population. All subjects were subjected to molecular genetic testing. The frequency of mutations of the Glu342Lys (PIZ) and Glu264Val (PIS) alleles of the serpina1 α1-antitrypsin gene was evaluated. All patients with NAFLD underwent a comprehensive examination, during which standard indicators of liver function, lipid, porphyrin metabolism and cytokine spectrum were determined.Results. Mutations of the α1 -antitrypsin SERPINA1 gene are signifi cantly more common in patients with NAFLD compared to individuals in the General population. Violations of lipid, porphyrin metabolism and cytokine spectrum parameters in the presence of mutations of the α1-antitrypsin SERPINA1 gene or their absence were registered with the same frequency. Against the background of mutations of the α1 -antitrypsin SERPINA1 gene, deviations from the normal values of lipid, porphyrin metabolism and cytokine spectrum were more signifi cant. Violations of porphyrin metabolism and cytokine spectrum were found in the majority of patients (in 69.4% and 77.1% of cases, respectively). Conclusion.Conducting molecular genetic studies in NAFLD allows you to clarify the degree of metabolic disorders and assess the prognosis of the disease.
Aim of the study was to investigate the associations of polymorphisms of some genes with overweight and some anthropometric and biochemical indicators in a population sample of the young population of Novosibirsk. Material and methods. The study was carried out on a sample of young people aged 25–35 years, residents of Novosibirsk, selected by the method of random numbers (n = 319). During the survey, a questionnaire was filled out, anthropometric measurements, blood sampling, followed by biochemical and molecular genetic studies were carried out. Results. The odds ratio (OR) to detect a carrier of the AA rs9939609 genotype of the FTO gene in the group with an increased body mass index (BMI) compared to the group with a normal BMI is 2.1 times higher (95% confidence interval (95 % CI) 1.2– 3.8; p = 0.019 in the AA vs AT+TT model). In the Kruskal – Wallis test in the general group, differences were found in carriers of different rs9939609 genotypes of the FTO gene in the thickness of the skin fold in the middle third of the right shoulder (p = 0.0008) and under the right shoulder blade (p = 0.026). In carriers of the AA genotype, these indicators were noticeably higher compared to carriers of the AT and TT genotypes. Differences in high density lipoprotein cholesterol were found in women (p = 0.032; the lowest level in the AA genotype) and low density lipoprotein cholesterol (p = 0.027; the highest value in the AA genotype). In addition, female carriers of the TT rs7903146 genotype of the TCF7L2 gene had lower diastolic blood pressure than carriers of the CT and CC genotypes (p = 0.027). The probability of detecting a male carrier of the CT or TT genotypes of the TCF7L2 gene polymorphism rs7903146 in the obese group is 0.313 (95 % CI 0.102–0.955; p = 0.036 in the CC vs CT+TT model) compared with the group with excess BMI (25 ≤ BMI < 30 kg/m2 ). The probability of detecting the allele with rs10811661 of the CDKN2AB gene in the obese group is 2.2 times higher (95 % CI 1.1–4.5; p = 0.035) compared with the group with an excess BMI. Conclusion. The association of overweight in the population sample of the young population of Novosibirsk was confirmed with rs9939609 of the FTO gene, rs7903146 of the TCF7L2 gene, rs10811661 of the CDKN2AB gene. The association of rs2237892 of the KCNQ1 gene and rs1111875 of the HHEX gene with overweight was not found. Associations of the studied SNPs with some anthropometric and biochemical indicators were found.
BACKGROUND: «The vicious circle» of associations of diabetes mellitus (DM) with pancreatic pathology, when pancreatic diseases can initiate DM, and type 2 DM — cause functional and organic pancreatic pathology, determines the search for possible associations. Some studies have established a relationship between TNF or TP53 polymorphisms with DM or with pancreatic diseases.AIMS: to determine and compare fasting plasma glucose and the frequency of hyperglycemia in patients with acute pancreatitis (APp), chronic pancreatitis (CPp), pancreatic cancer (PCp) depending on gender, etiology or stage of the disease, polymorphism -308G/A TNF gene in all patients, and polymorphism 72Arg/Pro gene TP53 in PCp..MATERIALS AND METHODS: At the observational multicenter clinical cross-sectional uncontrolled case-study 44 APp, 97 CPp and 45 PCp were examined; the groups were comparable by sex/age. Informed consent form for participate in the study was obtained from all patients. The main outcome of the study: frequency of hyperglycemia in APp, CPp, PCp, considering the polymorphism TNF and TP53 genes. RESULTS: The lowest age-standardized fasting plasma glucose (FPG) was found in CPp (6,2±0,2 mmol/l) than in APp (6,7±0,2 mmol/l, p=0,041). In PCp (6,6±0,2 mmol/l), the average levels of FPG did not differ substantially when compared with APp (p=0,749) or CPp (p=0,092). In APp, the norm of GP was detected less frequently (31,8%) than in CPp (54,6%, χ2 =6,3, p=0,012), and the frequency of the norm of GP in PCp (48,9%) did not differ with that in APp or CPp. The frequency of FPG≥6,1<7,0 mmol/l did not differ in APp (20,5%), CPp (9,3%) or PCp (17,8%). The frequency of FGP≥7.0 mmol/l did not differ in APp CPp and PCp: 47,7, 36,1, 33,3%. Logistic regression analysis revealed a tendency for an increased chance of having stage 3–4 PC with FPG≥7,0 mmol/l (Exp (B)=3,205 95%CI 0,866–11,855, p=0,081) in PCp, but not in patients with pancreatic necrosis or “definite» СP.The frequencies of G/G (71,4, 74,7, 76,2%), G/A (26,2, 24,1, 23,8%) of TNF genotypes did not differ in APp, CPp or PCp, p>0,05. In PCp genotypes Arg/Arg, Arg/Pro, Pro/Pro polymorphism gene 72Arg/Pro TP53 in 2,4, 35,7, 61,9% of cases. No associations of GP≥7,0 mmol/l with TNF polymorphism in APp, CPp, PCp and with TP53 polymorphism in PCp were obtained.CONCLUSIONS: The frequency of FGP≥7,0 mmol/l did not differ for various pancreatic disease and was not associated with the risk of pancreatic necrosis and “defined” CP. The -308G/A polymorphism TNF gene did not differ in APp, CPp or PCp and was not associated with impaired carbohydrate metabolism. The 72Arg/Pro polymorphism TP53 gene in PCp was not associated with impaired carbohydrate metabolism.
The aim of the study is to evaluate the association of some molecular genetic markers with progressive atherosclerosis.Material and methods. In total, the study included 202 patients (147 men and 55 women), who were divided into 2 groups. The 1st (main) group included patients with coronary artery disease (100 people) who had a combination of two or more cardiovascular events during the last 2 years before inclusion: myocardial infarction or unstable angina pectoris, arterial stenting for urgent indications (coronary and peripheral), stroke; acute ischemia, thrombosis or amputation of the lower extremities. The 2nd group (comparisons) included 102 patients with coronary artery disease who did not have any of the above cardiovascular events during the last 2 years before inclusion. DNA was isolated from peripheral blood samples by phenol-chloroform extraction.Results. In the group with progressive atherosclerosis at the age of 55 years and older, the AA rs3746444 genotype of the MIR499A gene was absent in both men and women, while in the control group its frequency reached 8.3 % (p = 0.044). The odds ratio of detecting the carriage of the heterozygous genotype AG of the rs6922269 polymorphism of the MTHFD1L gene in the group with progressive atherosclerosis is 0.5 times lower compared to the control group (95 % confidence interval 0.3–0.9; p = 0.034).Conclusions. Carrying the AA genotype rs3746444 of the MIR499A gene is a conditionally protective factor against the development of progressive atherosclerosis at the age of 55 years and older. Carrying the AG genotype of the rs6922269 polymorphism of the MTHFD1L gene is associated with a reduced likelihood of developing progressive atherosclerosis in patients with CAD.
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