Sarcopenia is associated with progressive generalized skeletal muscle weakness, persistent decline in muscle strength, function, and quality of life in the elderly population. The presence of sarcopenia worsens the prognosis of older patients. In this regard, the study of the etiology and pathogenesis of sarcopenia, the identification of early markers for the diagnosis of this disease are relevant areas today. Myokines are secreted by skeletal muscle and play a important role in the regulation of muscle mass and function, metabolic homeostasis. Myokine synthesis disruption may contribute to the development of sarcopenia. In addition, we can see the polymorphism association of various genes with the development of the disease. This review brings together current knowledge about myokines and genetic factors as potential biomarkers for the early diagnosis of sarcopenia.
Background. One of the most important gene polymorphisms that may be responsible for the development of insulin resistance is the rs9939609 of the FTO gene. Aim. To investigate the association of the rs9939609 polymorphism of the FTO gene in patients with type 2 diabetes (T2D) in the Yakut and Tatar populations. Materials and methods. The study involved patients with T2D from the population of the Yakut nationality of the Republic of Sakha (Yakutia), Yakutsk (n=132) and the Tatar population – residents of the Republic of Tatarstan (n=134). Molecular genetic analysis was carried out on in the central research laboratory of the Department of molecular genetics (Kazan State Medical University) and in the laboratory of hereditary pathology of the Department of Molecular Genetics (Yakut Science Center of Complex Medical Problems). Statistical data processing was carried out using GraphPad InStat, Microsoft Excel 2007 programs. Results. The frequency of the AA genotype of the rs9939609 polymorphism of the FTO gene in the group of T2D in the Tatar population differed from the own control sample: 30.1% vs 14.1%; p=0.00000006, as well as from the European control group from the 1000GENOME database: 30.1% vs 19.9%; p=0.0006. The frequency of the risk allele in T2D group in the Yakut population was statistically significantly higher than in the East Asian control group from the 1000GENOME database (27.7% vs 16.9%; p=0.00007), in the own healthy control group no significant differences were found. Conclusion. The more the Asian component in the genome of the population, the less it is predisposed to obesity and T2D. The rs9939609 polymorphism of the FTO gene is associated with the risk of T2D in the Tatar population; no association in the Yakut population was found.
The article is devoted to modern researches about the potential role of gut microbiota in the development of thyroid pathology. Gut microbiota plays a major role both in the formation and maintenance of human health and in the pathogenesis of a wide range of diseases. There is evidence of the relationship between the gut microbiota and the immune system, the risk of developing several malignant and autoimmune diseases. The article discusses the functions of the gut microbiota and the factors that determine its composition. Studies have shown a connection between the gut microbiota and the thyroid gland, which formed the basis for the formation of the theory of the gut-thyroid axis. It has been shown that the gut microbiota takes part in the metabolism of thyroid hormones and ensures their enterohepatic circulation. It is assumed that one of the links between the thyroid gland and gastrointestinal microorganisms is the immune system. The results of studies examining the taxonomic composition of the gut microbiota in patients with autoimmune thyroiditis and Graves’ disease are presented. It is hypothesized that the composition of the gut microbiota may influence the requirement for levothyroxine, especially in patients with subclinical hypothyroidism. On the other hand, levothyroxine, to a lesser extent, directly hypothyroidism as a result of autoimmune thyroiditis are associated with bacterial overgrowth syndrome despite the achievement of euthyroidism, and may affect the composition of the microbiota. Even though autoimmune thyroid diseases are quite common in the general population, little work has been done on this issue. More reliable basic and clinical researches are needed to identify specific relationships and mechanisms of development of thyroid pathology depending on changes in the composition of the gut microbiota, as well as to assess the potential for therapeutic use.
BACKGROUND: Patients with diabetes mellitus (DM) are at risk for a higher incidence and severity of COVID-19, as well as its adverse outcomes, including post-Covid syndrome.AIM: to assess the incidence of cardiorenal complications in patients with type 1 and type 2 diabetes (T1DM/T2DM) who have had COVID-19, and to analyze the structure and severity of disorders according to examination data at the Diamobil mobile medical diagnostic and treatment center.MATERIALS AND METHODS: a cohort of T1DM and T2DM patients examined in Diamobil (n=318), with a confirmed anamnesis of COVID-19 (n=236). The time interval between COVID-19 and the visit to Diamobil was 8.7/8.2 months for T1DM/T2DM. The parameters of the last visit before COVID-19 recorded in the Federal Register of Diabetes (FRD) were used as initial data.RESULTS: Clinical characteristics of patients with T1DM/T2DM: age — 49.2/64.5 years, duration of DM — 22/11 years, proportion of women — 64/73%, respectively. After analysis the data from visits before and after COVID-19 there weren’t statistically significant differences in HbA1c levels for both types of DM (before 9.0/8.3%; after 8.4/8.2%, respectively), there was the intensification of glucose lowering therapy (the proportion of patients with T2DM on 2 and 3 component therapy increased by 4.3% and 1.6%, the proportion of patients on insulin therapy by 16%). After COVID-19, there was a statistically significant decrease in glomerular filtration rate (GFR) in T1DM from 88.1 to 62 ml/min/1.73 m2; with T2DM from 74.7 to 54.1 ml/min/1.73 m2. When assessing acute diabetic complications, there was an increase in the frequency of coma in T1DM by 1.5 times, severe hypoglycemia in T1DM by 3 times, and in T2DM by 1.7 times. Analysis of the frequency of cardiorenal complications before and after COVID-19 showed a total increase of 8.5% in T1DM, by 13.2% in T2DM, of which myocardial infarction, ischemic heart disease, and CHF increased in T1DM in the range from 1.5 to 5 times, with T2DM by 1.3 times, the frequency of CKD with T1DM by 1.5 times, with T2DM by 5.6 times.CONCLUSION: There was a decline of kidney filtration function (decrease in GFR) and an increase in the frequency of cardiovascular complications in both types of diabetes in post-Covid period while patients achieved a stable HbA1c levels by intensifying therapy during the COVID-19 infection. This fact reflects combined damage to the kidney and cardiovascular system as a part of the post-Covid syndrome and determines a key set of measures for the development of preventive strategies.
Currently, the contribution of genetic factors to the development of type 2 diabetes is becoming more obvious. Despite the available nine classes of hypoglycemic drugs, only 35–40 % of patients achieve an adequate glycemic control. One the reasons may be the genetic heterogeneity of diabetes mellitus. An increasing number of studies indicates that an individual set of gene polymorphisms can determine the therapeutic response to a particular drug and cause the development of undesirable effects. The article presents an overview of a new direction in the diagnosis and treatment of diabetes mellitus – personalized medicine. The pathogenetic mechanisms of the development of the disease, its heterogeneity and the difficulties of choosing the most effective hypoglycemic therapy are described. Data on the pharmacogenetic features of metformin are presented.
Пациенты с сахарным диабетом (СД) относятся к одной из наиболее уязвимых групп риска при COVID-19, как в плане более тяжелого течения инфекции, так и повышения риска неблагоприятных исходов, в том числе развития постковидного синдрома. ЦЕЛЬ: оценить частоту развития кардиоренальных осложнений у пациентов с СД 1 и 2 типа, перенес- ших COVID-19, и провести анализ структуры и тяжести нарушений по данным обследования в мобильном медицинском лечебно-диагностическом центре Диамодуль. МАТЕРИАЛЫ И МЕТОДЫ: пациенты с СД 1 и 2 типа (n=318), обследованные в период выезда Диамодуля в республику Татарстан (05.2022 г.). Объем исследований в Диамодуле соответствует стандарту скрининга, направленного на раннюю диагностику диабетических осложнений согласно «Алгоритмам специализиро- ванной медицинской помощи больным сахарным диабетом». В итоговый анализ для оценки постковидных нарушений были включены пациенты, у которых COVID-19 был лабораторно подтвержден и были запол- нены показатели клинического и лабораторного статуса, предшествующие развитию COVID-19, по данным карты Федерального регистра СД (СД1 – 47; СД2 – 125). РЕЗУЛЬТАТЫ: медиана временных интервалов между COVID-19 и визитом в Диамодуле при СД1/СД2 составила 8,7/8,2 мес., что соответствует средним срокам развития проявлений постковидного синдрома по имеющимся данным литературы. Медианы возраста пациентов с СД1/СД2 составили 49,2/64,5 лет, дли- тельность СД – 22/11 лет, доля женщин – 64/73%, соответственно. Анализ показателей до и после COVID-19 не выявил статистически значимых отличий по уровню гликированного гемоглобина (HbA1c): при СД1 – 9,0% vs. 8,4%, при СД2 8,3% vs. 8,2%, соответственно (р=0,55 и 0,34); при этом отмечались достоверное увеличение ИМТ: при СД2 29,2 кг/м2 vs. 32,9 кг/м2 (р<0,001) и снижение скорости клубочковой фильтрации (СКФ): при СД1 – 88,1 vs 62,0 мл/мин/1,73м2 (р<0,001), при СД2 – 74,7 vs 54,1 мл/мин/1,73м2 (р<0,001) . Анализ сахаросни- жающей терапии (ССТ) у пациентов с СД2 показал, что после COVID-19 увеличилась доля пациентов на 2х и 3х компонентной терапии на 4,3% и 1,6%, соответственно, и доля пациентов на инсулинотерапии – на 16%. По сравнению с предшествующим развитию инфекции визитом отмечено увеличение частоты ком: при СД1 в 1,5 раза, тяжелых гипогликемий при обоих типах СД: СД1 в 3 раза, СД2 в 1,7 раза. Анализ кардиоренальных осложнений до и после COVID-19 показал увеличение их частоты на 8,5% – при СД1, на 13,2% - при СД2, из них инфаркт миокарда, ИБС, ХСН увеличились при СД1 в диапазоне от 1,5 до 5 раз, при СД2 в 1,3 раза; частота ХБП увеличилась при СД1 в 1,5 раза, при СД2 в 5,6 раз, что отражает факт сочетанного поражения сердечно- сосудистой системы и почек в рамках постковидного синдрома у пациентов с СД. ВЫВОДЫ: несмотря на стабильные показатели HbA1c и отсутствие значимого ухудшения гликемиче- ского контроля, в том числе вследствие интенсификации ССТ на фоне COVID-19, у пациентов с СД 1 и 2 типа в постковидном периоде наблюдается ухудшение функциональной способности почек (снижение СКФ) и увеличение частоты сердечно-сосудистых осложнений при обоих типах СД, что определяет ключевой спектр мероприятий для разработки мер профилактики
The purpose — to study the possibility of using rs9939609 T/A polymorphisms of the FTO gene, rs5219 C/T of the KCNJ11 gene, rs1801282 C/G of the PPARG gene, rs8192678 G/A of the PPARGC1A gene, rs12255372 G/T and rs7903146 C/T of the TCF7L2 gene as markers for predicting the risk of developing type 2 diabetes mellitus in patients with T2DM risk factors. Material and methods. 112 overweight/obese patients from the Republic of Tatarstan (79% women and 21% men) aged 22 to 79 years participated in a single–center observational cohort 3-year prospective study. All patients were clinically examined, glucose tolerance test was performed, the level of glycated hemoglobin was determined, and polymorphisms rs9939609 T/A of the FTO gene, rs5219 C/T of the KCNJ11 gene, rs1801282 C/G of the PPARG gene, rs8192678 G/A of the PPARGC1A gene, rs12255372 G/T and rs7903146 C/T of the TCF7L2 gene were studied using PCR in real-time mode. Statistical analysis was performed with R 4.1.0 software. Univariable and multivariable logistic regression modeling were performed to evaluate association between outcomes and possible predictors. Area under the ROC-curve and Nagelkerke pseudo R-squared was used to compare prognostic performance of predictors. Results. According to the result of logistic regression (p=0.003), the carrier of the T allele KCNJ11 rs5219 is an independent risk factor for T2DM regardless of gender, age, waist circumference (WC), waist–hip ratio (WHR) and waist-to-height ratio (WHtR) and can be attributed as a marker of increased risk of T2DM. The inclusion of this polymorphism into T2DM clinical risk models, taking into account gender, age, maternal obesity, WHR and WHtR indices showed an increase of AUC from 0.74 to 0.78 (p=0.012) and from 0.73 to 0.79 (p=0.0056), respectively. Conclusion. The rs5219 polymorphism of the KCNJ11 gene can be used as an independent marker for predicting the risk of developing type 2 diabetes mellitus. The inclusion of this polymorphism in the risk model, which takes into account, in addition to the maternal obesity, the indices of WHtR or WHR, improves its predictive ability.
ЦЕЛЬ: анализ распределения частот аллелей и генотипов полиморфизма rs9939609 гена FTO, ассоцииро- ванного с риском развития сахарного диабета 2 типа (СД2), у пациентов с СД 2 типа в якутской популяции и у жителей Республики Татарстан (РТ) МАТЕРИАЛЫ И МЕТОДЫ: в исследовании приняли участие пациенты с подтверждённым диагнозом СД 2 типа из популяции якутской национальности Республики Саха (Якутия), г. Якутск (n=132) и популяции РТ (n=134). ДНК выделяли из лейкоцитов крови сорбентным методом с помощью набора реагентов «АмплиПрайм ДНК-сорб-В» (ИнтерЛабСервис, Россия). Молекулярно-генетический анализ по локу- су rs9939609 гена FTO для образцов популяции РТ проводили с использованием аллель-специфичной полимеразной цепной реакции в режиме реального времени на амплификаторе CFX-96 (Bio-Rad Laboratories, США) с помощью коммерческих наборов реагентов (Тестген, Россия). Для генотипирова- ния образцов ДНК якутской популяции был применен ПЦР-ПДРФ метод, с использованием специфич- ных праймеров (форвард праймер: 5’-AACTGGCTCTTGAATGAAATAGGATTCAGA-3’ и реверс праймер: 5’-AGAGTAACAGAGACTATCCAAGTGCAGTAC-3’) (ООО «Биотех-Индустрия», г. Москва). Распределение генотипов и аллелей пациентов по rs9939609 гена FTO сравнивали с условно здоровыми людьми российской популяции (n=1564) и с базой данных 1000GENOME, Европейская популяция (n=503) для популяции Республики Татарстан; а также с условно здоровыми людьми популяций Республики Саха (Якутия) (n=70) и с базой данных 1000GENOME, восточно-азиатская популяция (n=504) для жителей Якутии. Статистическая обработка данных проведена с использованием: GraphPad InStat, Microsoft Excel 2007. РЕЗУЛЬТАТЫ: для исследуемого генетического маркера rs9939609 гена FTO распределение генотипов в контрольных группах и выборках пациентов с СД 2 типа в обеих популяциях соответствовало равнове- сию Харди–Вайнберга (p>0,05). Частота генотипа АА полиморфизма rs9939609 гена FTO в группе СД 2 типа популяции РТ отличалась от собственной контрольной выборки: 30,1% против 14,5%; р=0,00008, а также от европейской группы контроля из базы данных 1000GENOME: 30,1% против 19,9%; р=0,0006. Риск развития СД 2 типа при оценке доминантной модели наследования увеличивается у носителей аллеля риска А (ОШ=2,73, ДИ=1,77-4,21, p=0,00003). При оценке распределения частот генотипов и аллелей полиморфизма rs9939609 гена FTO у якутской по- пуляции относительно восточноазиатской контрольной группы из базы данных 1000GENOME обнаружено, что частота рискового аллеля в группе СД 2 типа была выше, чем в группе контроля (27,7% против 16,9%, p=0,00007). Носители хотя бы одного аллеля риска А имеют практически в 2,5 раза выше шансы развития СД 2 типа (ОШ=2,20, ДИ=1,49-3,25, р=0,00006). ВЫВОДЫ: получена ожидаемая ассоциация полиморфного маркёра rs9939609 FTO с развитием сахар- ного диабета 2 типа в якутской популяции и у жителей Республики Татарстан.
Type 2 diabetes mellitus (DM2) is a polygenic, multifactorial disease resulting from the interaction of genetic, epigenetic and environmental factors. Given the significant genetic and genomic research in this area, the role of genetic factors in the pathogenesis of DM2 is becoming increasingly clear. The review presents current information in the genetics of DM2, describes the technology of genome wide-associated system (GWAS) based on high-resolution biochips for the simultaneous analysis of thousands of genetic variants in a large number of patients. Due to the use of genome-wide studies, about 100 genes and more than 700 polymorphisms associated with T2DM have been described. The review provides a description of the most common genes and their polymorphisms (TCF7L2, KCNJ11, PPARG) identified by the GWAS method and showing a strong association with T2DM in various populations. In addition, the article notes the role of the ADRB2 gene, whose polymorphisms can also contribute to the development of carbohydrate metabolism disorders. The results of a study on the assessment of the relationship between the rs1042714 ADRB2 polymorphism and indicators of carbohydrate metabolism in different periods of life of overweight and obese women are presented.
Disorder of sex development (DSD) is a term used to refer to congenital disorders that led to atypical structure of the genitals. The cause of DSD is a disorder of the embryonic development of the reproductive system due to chromosomal, genetic pathology or other adverse effects on pregnancy. DSD entails difficulties with social adaptation of the family, leads to severe psychological disorders in the child and his relatives. Sex of a child with DSD should be established only after a full examination and consultation of specialists in this field. A clinical case is presented to illustrate the complexity of differential diagnosis and choice of passport sex in a child with one of the rare forms of DSD.
Over the past decade, some progress has been made in identifying and characterizing variants of DNA polymorphisms of genes associated with predisposition to type 2 diabetes mellitus (T2DM). The analysis of gene polymorphisms in combination with socio-demographic, clinical and metabolic parameters can be considered as a promising approach to identify high-risk groups for the development of T2DM. The review includes foreign and domestic studies of predictive models for the risk of developing T2DM comprising single-nucleotide polymorphisms, published in the period from 2006 to 2021. The search for the literature sources was carried out on the PubMed platform. The predictive accuracy of polygenic risk scores was assessed by comparing the area under the curve (AUC). The most commonly used clinical predictors of T2DM risk are sex, age, BMI, family history of diabetes, presence of arterial hypertension, waist circumference, waist-to-hip ratio. All genetic risk models for T2DM had lower AUC values than phenotypic (clinical) risk models. The addition of genetic factors has, in turn, improved AUC compared to purely clinical risk models in many studies, which may be a useful tool for primary prevention of T2DM. However, only those polymorphisms that strongly confirm their association with the risk of developing T2DM in different populations studies should be added to predictive risk scales.
Пациенты с сахарным диабетом (СД) относятся к одной из наиболее уязвимых групп риска при COVID-19, как в плане более тяжелого течения инфекции, так и повышения риска неблагоприятных исходов, в том числе развития постковидного синдрома. ЦЕЛЬ: оценить частоту развития кардиоренальных осложнений у пациентов с СД 1 и 2 типа, перенес- ших COVID-19, и провести анализ структуры и тяжести нарушений по данным обследования в мобильном медицинском лечебно-диагностическом центре Диамодуль. МАТЕРИАЛЫ И МЕТОДЫ: пациенты с СД 1 и 2 типа (n=318), обследованные в период выезда Диамодуля в республику Татарстан (05.2022 г.). Объем исследований в Диамодуле соответствует стандарту скрининга, направленного на раннюю диагностику диабетических осложнений согласно «Алгоритмам специализиро- ванной медицинской помощи больным сахарным диабетом». В итоговый анализ для оценки постковидных нарушений были включены пациенты, у которых COVID-19 был лабораторно подтвержден и были запол- нены показатели клинического и лабораторного статуса, предшествующие развитию COVID-19, по данным карты Федерального регистра СД (СД1 – 47; СД2 – 125). РЕЗУЛЬТАТЫ: медиана временных интервалов между COVID-19 и визитом в Диамодуле при СД1/СД2 составила 8,7/8,2 мес., что соответствует средним срокам развития проявлений постковидного синдрома по имеющимся данным литературы. Медианы возраста пациентов с СД1/СД2 составили 49,2/64,5 лет, дли- тельность СД – 22/11 лет, доля женщин – 64/73%, соответственно. Анализ показателей до и после COVID-19 не выявил статистически значимых отличий по уровню гликированного гемоглобина (HbA1c): при СД1 – 9,0% vs. 8,4%, при СД2 8,3% vs. 8,2%, соответственно (р=0,55 и 0,34); при этом отмечались достоверное увеличение ИМТ: при СД2 29,2 кг/м2 vs. 32,9 кг/м2 (р<0,001) и снижение скорости клубочковой фильтрации (СКФ): при СД1 – 88,1 vs 62,0 мл/мин/1,73м2 (р<0,001), при СД2 – 74,7 vs 54,1 мл/мин/1,73м2 (р<0,001) . Анализ сахаросни- жающей терапии (ССТ) у пациентов с СД2 показал, что после COVID-19 увеличилась доля пациентов на 2х и 3х компонентной терапии на 4,3% и 1,6%, соответственно, и доля пациентов на инсулинотерапии – на 16%. По сравнению с предшествующим развитию инфекции визитом отмечено увеличение частоты ком: при СД1 в 1,5 раза, тяжелых гипогликемий при обоих типах СД: СД1 в 3 раза, СД2 в 1,7 раза. Анализ кардиоренальных осложнений до и после COVID-19 показал увеличение их частоты на 8,5% – при СД1, на 13,2% - при СД2, из них инфаркт миокарда, ИБС, ХСН увеличились при СД1 в диапазоне от 1,5 до 5 раз, при СД2 в 1,3 раза; частота ХБП увеличилась при СД1 в 1,5 раза, при СД2 в 5,6 раз, что отражает факт сочетанного поражения сердечно- сосудистой системы и почек в рамках постковидного синдрома у пациентов с СД. ВЫВОДЫ: несмотря на стабильные показатели HbA1c и отсутствие значимого ухудшения гликемиче- ского контроля, в том числе вследствие интенсификации ССТ на фоне COVID-19, у пациентов с СД 1 и 2 типа в постковидном периоде наблюдается ухудшение функциональной способности почек (снижение СКФ) и увеличение частоты сердечно-сосудистых осложнений при обоих типах СД, что определяет ключевой спектр мероприятий для разработки мер профилактики
Abstract. Introduction. Acromegaly prevalence is 4.6 cases per 1 million person-years, and its rate is 116.9 new cases per 1 million person-years. At the same time, acromegaly manifestations can be insidious, and despite advances in this area, there are significant delays in the diagnosis of the disease, thereby worsening the prognosis for patients. Aim. To study the clinical course of acromegaly in a female patient with rheumatoid arthritis. Materials and Methods. This article presents a clinical case of a 47-year-old female patient with the proven diagnoses of rheumatoid arthritis and acromegaly. Results and Discussion. Essentially, pathological process in rheumatoid arthritis is systemic autoimmune inflammation that most intensively affects the synovial membrane of joints with maximum intensity. Acromegaly-related arthropathy is a non-inflammatory disease, in which hypertrophy and hyperplasia of cartilage lead to the joint geometry perturbations and metabolic disorders in chondrocytes and, eventually, to degenerative changes. This clinical case is interesting, given the coexistence of two severe diagnoses that have a similar clinical picture of musculoskeletal damages. Conclusions. Related to the findings from this clinical case, attention should be paid to the importance of timely diagnosing acromegaly, considering potential influence of concomitant pathology on the clinical course of the disease
The presented clinical case describes orphan disease known as MAS with manifested symptoms of precocious puberty, recurrent ovarian cysts, fibrous dysplasia, café-au-lait skin pigmentation and abnormal cardiac conduction. The pathogenesis is based on the GNAS gene mutation that cause hyperactivation of glycoprotein hormone receptors and hypersecretion. There are genetic tests that confirm the diagnosis, however, given the high percentage of false negative results, in most cases the disease is diagnosed based on a combination of clinical and laboratory-instrumental data. Given the high clinical variability and absence of management algorithms for patient with this syndrome, the article pinpoints the necessity of thorough examination of patients to select further management tactics. Multidisciplinary approach and collegiate case management will improve diagnosis of the disease and prevent the development of severe complications.
A clinical case of a pregnant patient with gestational arterial hypertension resulting from pheochromocytoma is presented. Th e article presents an algorithm for diff erential search for the cause of gestational arterial hypertension, clinical and laboratory data and therapeutic measures provided to the patient, on the basis of which endocrinologists together with obstetricians and gynecologists can determine the tactics of pregnancy and delivery of women with hormone-active adrenal tumors.
The PPARG gene has the great value in predicting of carbohydrate metabolism disorders development and the patients response to different therapy options. The article presents the information about the association between the single nucleotide polymorphism rs1801282 PPARG and the risk of different carbohydrate metabolism disorders development based on a review of the domestic and foreign researches. Despite that literature data regarding the association of this polymorphism with the development of metabolic disorders differ, most researchers agree that the G-allele of rs1801282 PPARG has the protective effect in relation to the risk of carbohydrate metabolism disorders development. The particular emphasis is placed on the association of rs1801282 PPARG with the results of carbohydrate metabolism disorders management, taking into account the lifestyle changes as well as the intake of oral hypoglycemic drugs used in the treatment of prediabetes and type 2 diabetes. Thus, a number of studies have shown that the G-allele carriers of rs1801282 PPARG had a better response to pioglitazone treatment in the form of lowering of fasting glucose and A1C levels and lipid profile normalization. The association of the polymorphism with the results of therapy with metformin remains an open question that requires further study.
BACKGROUND: Depending on the polymorphism of genes that that are involved in metabolism, the response of patients to different types of therapy may differ. Despite the potential effect of rs7903146 TCF7L2 and rs1042712 ADRB2 on changes in body composition in different types of therapy of early carbohydrate metabolism disorders, these associations haven’t been studied yet. AIM: To study the influence of rs7903146 TCF7L2, rs1042714 ADRB2 on changes in body fat composition in different types of therapy of early carbohydrate metabolism disorders.MATERIALS AND METHODS: The study involved patients with overweight or obesity and risk factors for Type 2 Diabetes development. All patients underwent genotyping with the real-time polymerase chain reaction, oral glucose tolerance test and bioimpedancemetry. Further, the patients were divided into two groups. First group kept a diet with the exclusion of simple and limitation of complex carbohydrates and fats. Second group took metformin in addition to the diet. Three months after bioimpedancemetry was performed again.RESULTS: The research involved 73 patients (the mean age 48±12 y.o., the mean BMI 34,27±6,18 kg/m2 ). The diet therapy group consisted of 47 people. Other 26 patients took metformin in addition to the diet. In group of diet, T allele carriers of rs7903146 TCF7L2 were characterized with more decrease in fat mass compared with CC homozygotes (- 7.90 ± 9.46% vs. -1.54 ± 8.98%, p = 0.027). CC genotype carriers of rs7903146 TCF7L2 in group of metformin and the diet had a tendency for more decrease in hip circumference compared with T allele carriers (-4.95 ± 3.34% vs. — 2.5 ± 2.96%, p = 0.064). Carriers of C allele in homozygous state of rs1042714 ADRB2, who took metformin with the diet, demonstrated more decrease in hip circumference (- 5.81 ± 3.00% vs. -2.50 ± 2.7%, p = 0.009), the tendency for decrease in fat mass (-8.28 ± 8.86% vs. — 3.20 ± 5.09%, p = 0.068) and waist circumference (-5.91 ± 4.29% vs. -3.03 ± 4.01 %, p = 0.091) compared with G allele carriers. The association of rs7903146 TCF7L2 and rs1042714 ADRB2 with changes in total body weight was not observed (p> 0.05).CONCLUSION: Single nucleotide polymorphisms rs7903146 TCF7L2 and rs1042714 ADRB2 influence on body fat composition in patients with early carbohydrate metabolism disorders in various types of treatment.
At an online meeting of experts held on May 14, 2021 additional research results on a sodium-glucose co-transporter-2 (SGLT2) inhibitor empagliflozin in patients with heart failure with reduced ejection fraction were considered. According to the data from the EMPEROR-Reduced international study, cardiovascular and renal effects of empagliflozin therapy in patients with and without type 2 diabetes (T2D) were analyzed. A number of proposals and recommendations was accepted regarding the further study of cardiovascular and renal effects of empagliflozin and its use in clinical practice in patients with heart failure, regardless of the T2D presence.
Background. Type 2 diabetes mellitus (T2DM) is a non-infectious pandemic of the 21st century. The severity and complexity of this disease is associated with the development and progression of chronic complications that begin at the stage of early carbohydrate and fat metabolism disorders. Aim. To identify the leading anthropometric predictors of the development of type 2 diabetes in overweight or obese patients with early carbohydrate metabolism disorders. Materials and methods. The cohort prospective study involved 112 overweight or obese adults (all citizens of Russia, Republic of Tatarstan) aged 22 to 79. The study was carried out from 2016 to 2018 in the City polyclinic №18. R 4.1.0 environment was used for statistical analysis. Univariable and multivariable logistic regression modeling were performed to evaluate association between outcomes and possible predictors, odds ratios with 95% confidence intervals were estimated. Area under the ROC-curve and Nagelkerke pseudo R-squared was used to compare prognostic performance of predictors. Results. During 3 years of follow-up of 112 patients with early carbohydrate metabolism disorders (prediabetes; n=64), without prediabetes (n=48) without medical intervention, new cases of type 2 diabetes in people with prediabetes and obesity amounted to 29% (n=18) compared with 6% (n=3) for patients with normal glucose levels. The ratio of waist circumference to height (WHtR) and the ratio of waist to hip circumference (WHR) had the greatest discriminative ability according to univariate and multifactorial analyses. Discussion. Our study is consistent with previous work indicating a negative impact of visceral adipose tissue on the risk of developing T2DM. WHR and WHtR most accurately reveal the visceral type of obesity. WHR and WHtR are statistically significant parameters for assessing the risk of developing T2DM according to our study. Conclusion. WHR and WHtR can be used as predictors of type 2 diabetes in overweight or obese individuals.