Association of the I/D polymorphism of angiotensinconverting enzyme gene with the development of essential hypertension

Objective. To determine the impact of the I/D polymorphism of the angiotensin-converting enzyme (ACE) gene on the development of essential hypertension, taking into account gender differences.Material and Methods. Clinical data were assessed and a molecular genetic study was performed in 602 people including 401 patients with essential hypertension and 201 individuals of the control group, representing the Belarusian ethnic group. Genotyping was performed using the method of polymerase chain reaction and restriction fragment length polymorphism.Results. The distribution of genotypes of the I/D polymorphism of the ACE gene did not differ between patients with hypertension and normotensive individuals: II, ID, and DD genotypes were detected in 100 (24.9%), 192 (47.9%), and 109 (27.2%) patients and in 52 (25.9%), 108 (53.7%), and 41 (20.4%) people of the comparison group, respectively. Differences were found between the distribution of DD genotype in men with hypertension and in the control group, where the frequencies were 28.4% and 17.3% (p = 0.04), respectively, in contrast to no differences in women: 25.8% and 23.3% (p = 0.64), respectively. Carrying the DD genotype in men compared with the ID and DD genotypes (recessive model) of the I/D polymorphism of the ACE gene increased the probability of developing essential hypertension by 1.9 times (OR = 1.89; 95% CI = 1.04-3.44). The analysis of the prevalence of risk factors depending on the I/D polymorphism of the ACE gene showed that male patients with the DD genotype more often had burdened heredity in regard to the development of premature cardiovascular diseases (23 patients (37.7%)) compared with the individuals with II and ID genotypes: 13 (21.7%) and 14 (14.9%) patients, respectively (χ2 = 1.16; p = 0.005), and mainly through the paternal line.Conclusions. Development of essential hypertension is associated with the carriership of the mutant DD genotype of I/D polymorphism of the ACE gene in men.

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THE EFFECT OF DIET ENRICHED WITH PYROPHOSPHATE (E450) ON EXPRESSION OF GENES ENCODING BONE MORPHOGENETIC PROTEIN AND OSTEOCALCIN IN MOUSE EMBRYONIC MANDIBLE TISSUES

Wiadomości Lekarskie ◽

10.36740/wlek202101108 ◽

2021 ◽

Vol 74 (1) ◽

pp. 43-47

Author(s):

Inessa I. Yakubova ◽

Victor E. Dosenko ◽

Lesya V. Tumanovska ◽

Volodymyr I. Ostrianko

Keyword(s):

Mrna Expression ◽

Molecular Genetic ◽

Mouse Embryos ◽

Control Group ◽

Molecular Genetic Study ◽

Expression Of Genes ◽

Morphogenetic Protein ◽

Genes Encoding ◽

Materials Used ◽

The Impact

The aim: Of our study was to measure the mRNA expression of the investigated odontogenesis factors in mandible tissue of mouse embryos (17th day of pregnancy) gestated by females, kept on a E450 rich diet since 30 days before fertilization to gestation. Materials and methods: The effect of food supplements was studied in «Overload phosphates model». Experiments were carried out on white nonlinear outbred mice with mass 25−28g (n=40). The females from the control group were fed with standard rodent food, whereas the experimental females were fed with pyrophosphate-enriched food. The materials, used for the molecular genetic study, were the lower jaws of 17-days old mouse embryos (E−17). Results: The investigated BMP2 and osteocalcin genes are expressed at approximately the same level. Pyrophosphate-rich diet does not alter BMP2 gene expression, but it significantly increases the expression of osteocalcin. Conclusions: The present study is the first one to describe the impact of the pyrophosphate-rich diet on mRNA expression of key osteogenesis regulators – osteocalcin and BMP2.

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Individual and Combined Assessment of Ser680Asn FSH Receptor and FSHβ -211 G>T Gene Polymorphisms in Ovarian Response in IVF/ICSI Program

Current Pharmaceutical Biotechnology ◽

10.2174/1389201021666201029153518 ◽

2020 ◽

Vol 21 ◽

Author(s):

Elli Anagnostou ◽

Alexia Kafkoutsou ◽

Despina Mavrogianni ◽

Ekaterini Domali ◽

Evangelia Dimitroulia ◽

...

Keyword(s):

Gene Polymorphism ◽

Gene Polymorphisms ◽

Ovarian Response ◽

Greek Population ◽

Control Group ◽

Genotype Distribution ◽

Β Subunit ◽

Molecular Genetic Study ◽

The Impact ◽

First Time

Background: Molecular biology tools, such as the detection of single nucleotide polymorphisms (SNPs), have been considered to assist to the management of the ovarian stimulation protocols. Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied, to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population. Results : The FSH β-211 G>T polymorphism, studied for the first time in the Greek infertile population, appears to be quite rare. When studying the two polymorphisms separately, statistically significant differences were obtained that concerned the LH levels. Discussion: According to the combination analysis of the two polymorphisms by the number of alleles, women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences in pregnancy rates. Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of ovarian response to exogenous gonadotropins.

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MOLECULAR GENETIC STUDY OF THE IMPACT OF SNP C677T OF THE GENE MTHFR IN THE DEVELOPMENT OF CONGENITAL ISOLATED CLEFT LIP AND PALATE

Kuban Scientific Medical Bulletin ◽

10.25207/1608-6228-2018-25-5-104-110 ◽

2018 ◽

Vol 25 (5) ◽

pp. 104-110

Author(s):

V. S. Uchaeva ◽

Yu. A. Vasiliev ◽

A. S. Gracheva ◽

O. V. Gulenko ◽

I. G. Udina

Keyword(s):

Genetic Study ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Control Group ◽

Population Genetic Study ◽

Molecular Genetic Study ◽

Increased Risk ◽

Significant Difference ◽

Congenital Cleft ◽

The Impact

Aim. This research was designed to conduct an associative population genetic study for the consideration of the impact of SNP C677T of the gene MTHFR in the congenital maxillofacial developmental anomalies (CMDA): congenital cleft lip (CCL), congenital cleft palate (CCP), congenital cleft lip and palate (CCLP) in the Krasnodar territory. The aim of the study is to establish the associations between SNP C677T of the gene MTHFR and the development of congenital cleft lip and/ or palate.Materials and methods. In this research, the peculiarities of distribution of SNP C667T of the gene MTHFR in children with congenital cleft lip and/or palate (n=223) and their mothers (n=78) in comparison with the control group (n=124) were studied in the Krasnodar territory. The genetic demographic questionnaires were gathered for children with CMDA, the information about diagnosis was obtained from the medical records. The biological samples, including blood or scrapings of oral mucosa, were collected from children with the pathology and their mothers. The DNA was extracted from the samples by the standard method. The study of the peculiarities of distribution of alleles of SNP C677T of the gene MTHFR was performed by PCR-PFLP with endonuclease Hinf I or by tetra-primer ARMS-PCR method in children with CCL, CCP, CCLP, their mothers and the control group. Statistical processing of the obtained data was performed by the algorithms of the “Statistica” program.Results. While comparing the profiles of frequencies of SNP C677T in children with CCL, CCP and CCLP with the control group, there were identified no significant differences in the frequency of this SNP and no peculiarities of genotypes distribution. There was identified a significant difference in the peculiarities of genotypes distribution with the control group (G=19,5232, d.f.=1, p<0,001) as well as united genotypes (С/C и С/T) in accordance to T/T (G=10,4657, d.f.=1; p<0,001) and united genotypes (C/T и T/T) in accordance to C/C (G=15,1896, d.f.=1, p<0,001) for the mothers of children with CCL, CCP and CCLP.Conclusion. As a result of the study, we established the association of SNP C677T of the MTHFR gene with the development of congenital cleft lip and/or palate: mothers’ T/T genotype is associated with the increased risk of giving birth to a child with CCL, CCP and CCLP (in comparison with mothers with C/C+C/T genotype): odds ratio [OR]=16,63, 95% CI: 3,86-71,71; p=0,0003 and also for mothers with genotypes (C/T+T/T) in comparison with mothers with genotypes C/C: OR=3,22, CI:1,71-6,08; p=0,0002. The amount of risk is not significant in children with CMDA for T/T genotype. So it is possible to make a conclusion about the impact of C677T of the gene MTHFR in the development of CCL, CCP and CCLP only in mother’s genotype.

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GENETIC ASPECTS OF PREGNANCY MISCARRIAGE

Likarska sprava ◽

10.31640/jvd.5-6.2019(8) ◽

2019 ◽

pp. 71-76

Author(s):

K. M. Lisova ◽

I. V. Kalinovska ◽

O. M. Yuzko

Keyword(s):

Pregnant Women ◽

Molecular Genetic ◽

Clinical Signs ◽

Clinical Manifestations ◽

Control Group ◽

Molecular Genetic Study ◽

Immunological Parameters ◽

Fetoplacental Complex ◽

Maternal Genotype ◽

A1166c Polymorphism

Pregnancy miscarriage is a consequence of many factors. The aim of the study was to analyze the effect of miscarriage gene on embryometric, ultrasound, hormonal, immunological parameters in pregnant women, and to evaluate its prognostic value. The main group includes 31 pregnant women who had clinical signs of miscarriage in current or previous pregnancy. The control group consists of 32 healthy pregnant women whose clinical-paraclinical parameters served as a control to compare the data of the pregnancy survey of the main surveillance group. A general clinical examination and a special obstetrical examination (complaints, anamnesis, general medical examination, obstetric examination), biochemical studies (determination of hormones of the fetoplacental complex in blood serum of pregnant women), ultrasound, immunological studies, histological studies of the placenta, molecular genetic study A1166C polymorphism of the AGTR1 gene were made. In the course of the research, the genetic determinism of miscarriage was discovered. The polymorphism of the A1166C of the AGTR1 gene was considered as a prognostic marker of miscarriage in early gestational term and preeclampsia in the second half of pregnancy. A reliable marker of abortion was the maternal genotype 1166AC for the genome AGTR1. The risk of occurrence of clinical manifestations of abortion increased five times. At simultaneous influence of all prognostic factors the risk of abortion increased 6,25 times. Detection of genetic markers of pregnancy miscarriage will allow early correction of this pathology and prevent perinatal loss.

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MOLECULAR GENETIC ASPECTS OF SUCCESSFUL PERFORMANCE IN CYCLIC SPORTS

SCIENCE AND SPORT: current trends ◽

10.36028/2308-8826-2020-8-2-67-79 ◽

2020 ◽

Vol 8 (2) ◽

pp. 67-79

Author(s):

Sergei Melnov ◽

Tatyana Lebed ◽

Elena Komar

Keyword(s):

Genetic Markers ◽

Molecular Genetic ◽

Control Group ◽

Successful Performance ◽

Development Patterns ◽

Genetic Status ◽

Polymerase Chain ◽

Agt Gene ◽

Initial Selection ◽

Relative Similarity

The purpose of the study was a comparative analysis of the genetic status of rowing athletes and swimmers of high sports qualifications. Methods and organization of research. The cohort studies brought together a control group (215 people), a group of rowers (215 people) of high qualification (Candidates Masters of Sports - 54, Masters of Sports - 102, Masters of Sports International Class - 59); a group of swimmers (127) of high qualification (Candidates Masters of Sports - 114, Masters of Sports - 13). The typing of the polymorphism of the studied genes was carried out using the method of polymerase chain reaction (PCR) with subsequent processing of the amplification by restriction endonucleases (NlaIII, TaqI, MspI, BslI). The results of the study. We have substantiated the panel of genetic markers that determine successful performance in rowing, including the following polymorphic systems: I / D of the ACE gene, Met174Thr of the AGT gene, Ser482Gly of the PPARGC1A gene, + 294T / C of the PPARD gene, G2027C of the PPAPA gene, S / L of the 5HTT gene; T102C of the 5HT2A gene. Despite the relative similarity of requirements for successful performance in rowing and swimming, significant differences in the genetic status of successful athletes were revealed. Conclusion. Analysis of the expression of genetic markers, the number of which is constantly increasing, makes it possible to predict not only the development patterns of physical qualities of an athlete, but also to assess his training potential. It helps us to identify approaches to the development and correction of training programs for specific athletes based on their genetic status. Summarizing the results of the initial selection in the cyclic sports section, we can recommend the analysis of the following polymorphic markers: I / D gene ACE, Thr174Met gene AGT, G2528C gene PPARA, Gly482Ser gene PPARGC1A, + 294T / C gene PPARD, C102T gene 5HT2 L, 5HTA S gene 5HTT.

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A Prospective Controlled Study of the Impact of Hyperthyroidism on Reproductive Function in Males

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.87.8.8714 ◽

2002 ◽

Vol 87 (8) ◽

pp. 3667-3671 ◽

Cited By ~ 31

Author(s):

G. E. Krassas ◽

N. Pontikides ◽

V. Deligianni ◽

K. Miras

Keyword(s):

Seminal Plasma ◽

Sperm Morphology ◽

Sperm Parameters ◽

Controlled Study ◽

Control Group ◽

Sperm Density ◽

Semen Volume ◽

Male Patients ◽

The Impact ◽

Prospective Controlled Study

The aim of this prospective controlled study was to ascertain the effect of hyperthyroidism on sperm quality and composition. We studied 23 thyrotoxic male patients, aged 43.8 ± 2.4 yr (mean ± sem), and 15 healthy male controls of approximately the same age (42.2 ± 2.2 yr). Two semen analyses at intervals of 2–3 wk were obtained before and about 5 months after euthyroidism was achieved either by methimazole alone (14 patients) or 131I plus methimazole (9 patients). Total fructose, zinc (Zn), and magnesium (Mg) were also measured in seminal plasma in 16 patients, because 7 had semen volume less than 2 ml. In the control group semen analysis was performed only once. Mean (±sem) semen volume was within normal range both in patients (3.3 ± 0.2 ml) and controls (3.5 ± 0.4 ml; P = NS). Mean sperm density was lower in patients, although the difference compared with controls did not reach statistical significance (35.7 ± 5.3 vs. 51.5 ± 6.1 × 106/ml; P = 0.062). The same was found with sperm morphology (68 ± 7% vs. 78 ± 8%; P = NS). Finally, mean motility was lower in thyrotoxic males than in controls (28 ± 8% vs. 57 ± 7%; P < 0.01). After treatment, sperm density and motility improved [35.7 ± 5.3 vs. 43.3 ± 6.5 × 106/ml (P = NS) and 28 ± 8% vs. 45 ± 7% (P < 0.05), respectively], but sperm morphology did not change (68 ± 7% vs. 70 ± 6%; P = NS). Mean values for fructose, Zn, and Mg did not differ between controls and patients either before or after achievement of euthyroidism [9.2 ± 0.7, 3.0 ± 0.5, and 4.2 ± 0.7 nmol/liter vs. 8.6 ± 0.9, 3.0 ± 0.5, and 4.7 ± 0.8 nmol/liter (patients before) and 9.1 ± 0.7, 3.1 ± 0.6, and 4.5 ± 0.9 nmol/liter (patients after treatment) for fructose, Zn, and Mg, respectively]. Moreover, according to the treatment given, no statistically significant differences were found before or after treatment. Finally, seminal plasma fructose, Zn, and Mg levels did not correlate with sperm parameters or with pretreatment thyroid hormone levels. In conclusion, the results of our study indicate that male patients with hyperthyroidism have abnormalities in seminal parameters, mainly sperm motility. These abnormalities improve or normalize when the patients become euthyroid. Restoration of sperm parameters was independent of the treatment provided for the hyperthyroid syndrome. Moreover, seminal plasma elements, such as fructose, Zn, and Mg, did not correlate with sperm density, motility, or morphology.

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Anthropometric Assessment after Slow Breathing Exercise in Type 2 Diabetic Male Patients

International Journal of Diabetes & Metabolic Disorders ◽

10.33140/ijdmd.05.02.03 ◽

2020 ◽

Vol 5 (2) ◽

Keyword(s):

Statistical Significance ◽

Control Group ◽

Study Group ◽

Physical And Mental Health ◽

Anthropometric Parameters ◽

Breathing Exercise ◽

Male Patients ◽

Slow Breathing ◽

The Impact

Background: Yoga based slow breathing exercise (SBE) has several beneficial effects on physical and mental health. Objectives: To observe the impact of slow breathing exercise on anthropometric parameters in male patients with type 2 diabetes mellitus (T2DM). Methods: This prospective interventional study was conducted on sixty (60) male diagnosed T2DM patients aged 45-55 years with duration of disease 5-10 years enrolled from Out Patients Department of Endocrinology, Bangabandhu Sheikh Mujib Medical University, and Dhaka. By simple random technique the subjects were divided into control group (n=30) and study group (n=30). Yoga based slow breathing exercise was practiced by the study group for 30 minutes twice daily for 3 months. Height, weight, body mass index (BMI), waist circumference, hip circumference and waist/hip ratio were assessed at the start of the study and after 3 months. Independent sample and paired t-test were used for statistical analysis and p<0.05was considered as statistical significance. Results: In this study the value of mean BMI was significantly (p=<0.05) reduced after 3 months of SBE. Again, all the anthropometric parameters were significantly (p=>0.05) increased after 3 months in the group who did not undergo SBE. Conclusion: Anthropometric parameters were improved after slow breathing exercise for 3 months.

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Influence of SARS-CoV-2 Virus Infection on the Course of Psoriasis during Treatment with Biological Drugs

Medicina ◽

10.3390/medicina57090881 ◽

2021 ◽

Vol 57 (9) ◽

pp. 881

Author(s):

Magdalena Mroz ◽

Szymon Mućka ◽

Martyna Miodońska ◽

Dominika Ziolkowska ◽

Ewa Hadas ◽

...

Keyword(s):

Polymerase Chain Reaction ◽

Biological Treatment ◽

Systemic Treatment ◽

Control Group ◽

Similar Data ◽

Chain Reaction ◽

Positive Real ◽

Psoriasis Area Severity Index ◽

Polymerase Chain ◽

The Impact

Background and objectives: Biological treatment is an important and effective therapy for psoriasis. During the COVID-19 pandemic, it remains unclear whether this type of therapy affects the course of SARS-CoV-2 infection. The aim of the study was to observe patients with psoriasis undergoing biological or other systemic treatment in relation to the impact of SARS-CoV-2 infection on the course of psoriasis and the COVID-19 disease itself. Materials and methods: A one-year observational study included 57 patients with diagnosed psoriasis who qualified for biological treatment and a group of 68 similar patients who were administered a different systemic treatment. Patients were analyzed monthly for psoriasis (including Psoriasis Area Severity Index (PASI) assessment) and constantly for SARS-CoV-2 infection (telephone contact). Cases of COVID-19 were confirmed by Polymerase Chain Reaction (PCR) at the study center. Results: SARS-CoV-2 infection was confirmed by a positive Real Time Polymerase Chain Reaction (RT-PCR) test in eight patients (14.0%) with psoriasis on biological therapy. None of the cases in this group required hospitalization for COVID-19. Similar data were obtained in the control group. Specifically, 11 (16%) patients were confirmed to be infected with SARS-CoV-2. These results were statistically comparable (p > 0.05). In the group of patients undergoing biological treatment, six (75%) of eight patients developed an exacerbation of psoriasis during SARS-CoV-2 infection, and similar results were noted in the control group, with eight (72%) patients experiencing an exacerbation of psoriasis. Conclusions: Patients with psoriasis who were administered biological treatment or other systemic therapy may experience a mild course of SARS-CoV-2 infection but might also experience a temporary exacerbation of skin lesions.

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Plasma concentrations soluble ST2 and сardiac dysfunction in patients with essential hypertension

Ukrainian Journal of Cardiology ◽

10.31928/1608-635x-2020.5.5359 ◽

2020 ◽

Vol 27 (5) ◽

pp. 53-59

Author(s):

D. A. Bahrij ◽

O. L. Starzhynska ◽

V. M. Zhebel

Keyword(s):

Cardiovascular Disease ◽

Essential Hypertension ◽

Serum Level ◽

Left Ventricular ◽

Left Ventricular Ejection ◽

Control Group ◽

Soluble St2 ◽

Heart Dysfunction ◽

Peptide Concentration ◽

Male Patients

The aim – to determine the place of soluble ST2 (sST2) as a possible biomarker of remodeling and heart dysfunction in patients with essential hypertension of varying severity.Materials and methods. Examined 150 men with confirmed essential hypertension (EН) of varying severity, including 50 people with EН complicated by heart failure (HF) IIA stage according to the classification of UAHF (groups were representative by age, mean age 50.17±0.48 y.о.), 70 men in the control group (mean age 48.82±0.78 y.о.) The following inclusion criteria were used: age 40 to 60 years, male, verified diagnosis of EH. The structure and function of the heart were studied using echocardiography with Doppler. The serum level of sST2 was determined by immuno assay.Results and discussion. The serum level of sST2 in patients of the control group was 22.14±0.86 ng/ml. It was found, that the peptide concentration in plasma of male patients without cardiovascular disease does not significantly correlate with physical or age parameters, renal function, the condition of systemic or intracardiac hemodynamics. It was found, that for patients with EH the serum level of sST2 was significantly higher than in the control group (p<0.05). The formation of left ventricular hypertrophy (LVH) leads to a significant increase of the peptide concentration in plasma in patients with EH. However, in patients with different types of LVH – concentric and eccentric – the indicator does not differ significantly (26.87±1.04 ng/ml vs. 29.15±1.15 ng/ml, p≥0.05). It was determined, that in case of confirmed diastolic dysfunction (DD) without LVH, the level of the peptide does not increase significantly. And only in patients with a combination of DD and LVH the serum level of sST2 is significantly higher (27.64±1.17 ng/ml, p≥0.05). Also in patients with EH and left ventricular ejection fraction (LV EF) less than 40 %, the serum level of peptide is significantly higher, than in patients with preserved LV EF (25.65±1.14 ng/ml vs. 29.07±1.22 ng/ml, p≥0.01).Conclusions. Thus, in male patients with EH of varying severity, the serum level of sST2 is significantly higher than in people without cardiovascular disease. Peptide concentration in plasma in both cases is not related to age or physical parameters. In patients with uncomplicated EH, significantly higher serum level of sST2 is associated with the development of LVH, regardless of its type, and impaired diastolic function of the heart. In case of HF on the background of EH, the serum level of sST2 also is significantly higher, especially in case of the formation of systolic heart dysfunction with LV FE < 40 %.

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Vibration disease: erectile dysfunction as a comorbidity problem

Sanitarnyj vrač (Sanitary Inspector) ◽

10.33920/med-08-2006-04 ◽

2020 ◽

pp. 36-43

Author(s):

S. Babanov ◽

N. Tatarovskay

Keyword(s):

Erectile Dysfunction ◽

Questionnaire Survey ◽

Erectile Function ◽

Control Group ◽

Local Vibration ◽

Vibration Disease ◽

Male Patients ◽

And Control ◽

The Impact ◽

Second Degree

The article presents data (based on a questionnaire survey) on the impact of vibration disease from the action of local and General vibration on the erectile function of men. The main changes in the parameters of erectile function (frequency, need, etc.) are described in the case of first and second-degree vibrational disease caused by local vibration, and in the case of first-and second-degree vibrational disease caused by General vibration based on data from a questionnaire survey of male patients and control group.

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