scholarly journals The efficacy of diuretics in complex treatment of patients with hypertension according to the Gly460Trp polymorphism of the α-adducin gene

2021 ◽  
Vol 23 (4) ◽  
pp. 503-508
Author(s):  
S. A. Yermolenko ◽  
V. F. Orlovskyi ◽  
O. V. Orlovskyi ◽  
A. V. Zharkova ◽  
I. O. Moiseienko ◽  
...  

The aim of the study was to investigate the effect of thiazide diuretics on blood pressure (BP) depending on Gly460Trp ADD1 gene polymorphism in arterial hypertension (AH) patients of the Ukrainian population in order to predict their individual treatment efficacy. Material and methods. The study included 232 persons: 120 patients with verified stage II AH and 112 healthy individuals. Restriction fragment length polymerase chain reaction (PCR-RFLP) was used to detect genotype (the Gly460Trp-polymorphic locus of the ADD1 gene). The patients received standard therapy, which included ACE inhibitor – ramipril 5 mg, calcium channel antagonist – amlodipine 5 mg, statin – atorvastatin 20 mg, acetylsalicylic acid 75 mg. The patients were randomized into two groups: group I (60 persons) additionally taking treatment with 1.5 mg of indapamide retard and group II (60 persons) – with 25 mg of hydrochlorothiazide. The dynamic reduction of blood pressure has been assessed every 4 weeks for 2 months. Results. Among 120 patients with AH, 91 persons (75.8 %) were homozygous for the G allele (GG), 26 persons (21.7 %) – heterozygous (GT) and 3 persons (2.5 %) – homozygous for the T allele (TT), while the G allele frequency in patients with hypertension was 0.87, and the T allele – 0.13. 98 healthy individuals (87.5 %) were homozygous for the G allele, 13 individuals (11.6 %) were heterozygous, and 1 person (0.9 %) was homozygous for the T allele. The carrier frequency of the G and T alleles was 0.93 and 0.07, respectively. Allelic distribution indicated the predominance of the G allele carriers by Gly460Trp polymorphism of the ADD1 gene among the Ukrainian population, regardless of whether AH symptoms were present. It is noteworthy that the number of the T allele carriers was 2 times large among symptomatic patients than that among healthy individuals. In patients with the T allele, the hypotensive efficacy of indapamide was almost 3 times higher than that in patients with the G allele. The antihypertensive effect of hydrochlorothiazide in patients with the GT and TT genotypes was 2 times greater than that in the GG genotype carriers depending on the presence of the T allele G460T polymorphism of ADD1 gene in the genotype. Conclusions. Allelic distribution indicates the predominance of the G allele carriers by Gly460Trp ADD1 gene polymorphism among the Ukrainian population, regardless of whether AH symptoms are present. Among patients with AH, the accumulation of the T allele G460T polymorphic marker of the α-adducin gene is 2 times more than that in healthy individuals. Patients carrying the T allele demonstrate 2 times higher hypotensive efficacy of indapamide compared with hydrochlorothiazide.

2017 ◽  
Vol 42 (3) ◽  
pp. 153 ◽  
Author(s):  
P. P. Agung ◽  
S. Anwar ◽  
W. P. B. Putra ◽  
M. S. A. Zein ◽  
A. S. Wulandari ◽  
...  

A study was conducted to identify the polymorphism in the intron 3 of the Growth Hormone (GH) gene and also to evaluate the association of the GH gene polymorphism with growth parameters and dressing percentage in the Sumba Ongole (SO) cattle. A total of 267 individual DNA samples were used in the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis. The SO cattle growth parameters data (n=44) including birth weight (BW), weaning weight at 205 days of age (WW205), yearling weight at 365 days of age (YW365) and also dressing percentage (DP) (n=122) were investigated in this study. There were three genotypes (AA, AB, and BB) of the GH gene based on the PCR-RFLP analysis with allele frequency was 0.87 and 0.13 for A allele and B allele respectively. The highest genotype frequency in the SO cattle is AA (0.76) and the lowest is BB (0.02). The Heterozygosity Observed (Ho) value in the SO cattle population is 0.23 and Polymorphism Information Content (PIC) value is 0.20. Therefore, the genetic diversity in the SO cattle based on the GH gene polymorphism is quite low. There is no association (P>0.05) in BW, WW205, YW365, and DP with genotypes of the GH gene. As the result, the GH gene in this study cannot be used as a genetic marker in the SO cattle breeding program.


2020 ◽  
Vol 16 (2) ◽  
pp. 185-189
Author(s):  
Emy Huriyati ◽  
Harry Freitag Luglio ◽  
Ahmad H. Sadewa ◽  
Mohammad Juffrie

Background: Obesity has been associated with genetic and environmental factors. Although carbohydrate intake was previously shown to be associated with a high risk of obesity and insulin resistance, some studies reported that genetic factors also have a role in this association. KCNJ11 is a gene involved in protein K-ATP channels of pancreatic beta cells and previously associated with obesity. Objective: The objective of this study was to determine the interaction between KCNJ11 polymorphism with a high intake of refined carbohydrates in relation to the incidence of obesity in adolescents. Method: This was an observational study with a case-control design. The subjects of this study were male and female adolescents from 10 high schools in Yogyakarta. Dietary intake, body weight, and height were collected. KCNJ11 gene polymorphism was detected by polymerase Chain Reaction- Restriction Fragment Length Polymorphism (PCR-RFLP) method. Result: There is a significant association between KCNJ11 polymorphism with a high intake of refined carbohydrates in the incidence of obesity in adolescents (OR = 2.35, p =0.036). Conclusion: There is a significant association between the KCNJ11 polymorphism with a high intake of refined carbohydrates in adolescent obesity.


2009 ◽  
Vol 78 (2) ◽  
pp. 267-272 ◽  
Author(s):  
Dorota Stępień-Poleszak ◽  
Arkadiusz Pietruszka ◽  
Maria Kawęcka

The study was aimed at defining leptin gene polymorphism and its potential association with values of particular features of fattening and slaughter value of gilts of Line 990. The study included a total of 208 gilts. The polymorphic locus in LEP gene was identified by the restriction enzyme HinfI in 3469 position, by using the polymerase chain reaction-restriction fragment-length polymorphism (PCR–RFLP) method. Two alleles of LEP gene were identified: T (0.94) and C (0.06), resulting in two genotypes: TC (0.12) and TT (0.88). We did not observe any gilts of CC genotype. The analysis of values of fattening and slaughter features, depending on LEP genotype did not reveal significant differences in body mass increase, daily gain from day 63 to 180, and daily gain from birth to day 180, feed conversion per 1 kg body mass and the loin-eye thickness. Significant differences between the LEP genotypes were present for such features as the backfat thickness at points P2 (p ⪬ 0.05) and P4 (p ⪬ 0.01) and average backfat thickness (p ⪬ 0.01) in favour of TT genotype. We noted higher average values of lean meat content in carcass in favour of TT homozygotes, compared to the heterozygotes (p ⪬ 0.05). The investigation contributes additonal information regarding LEP gene polymorphism in gilts of Line 990. Knowledge of LEP genotypes may be useful to improve the slaughter value in gilts primarily due to less fatness. Due to the lack of individuals representing CC genotype in our results, research should continue on a larger population.


2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Svitlana Yermolenko ◽  
Yaroslav Chumachenko ◽  
Viktor Orlovskyi ◽  
Irina Moiseyenko ◽  
Oleksandr Orlovskyi

Arterial hypertension (AH) belongs to the diseases with genetic predisposition that determines the necessity of research on the genetic component’s influence on this disease development. It is suggested that one of the salt-sensitive arterial hypertension potential markers may be the alpha-adducin gene because its protein product is involved in the ion transport regulation in the renal epithelium. Thus, the aim of the study was to investigate the association between ADD1 Gly460Trp-polymorphism and the AH development risk among patients with different risk factors in the Ukrainian population. The study included 232 Ukrainians: 120 patients with diagnosed arterial hypertension and 112 practically healthy individuals. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was used for ADD1 Gly460Trp-polymorphism genotyping. The ADD1 Gly460Trp-polymorphic locus is an important predictor of arterial hypertension development in the Ukrainian population, but other nongenetic factors should be considered in further studies.


2017 ◽  
Vol 8 (2) ◽  
pp. 42-48
Author(s):  
T Afroz ◽  
N Sultana ◽  
MH Rahman ◽  
A Begum ◽  
FZ Muna ◽  
...  

Metabolic syndrome (MetS) is a highly prevalent complex disorder among adults worldwide which includes cardiovascular risk factors such as central obesity, insulin resistance, dyslipidemia and hypertension. MetS or its components are prevalent in patients with benign prostate hyperplasia (BPH), a common urogenital disorder of adult male with increasing age. This cross-sectional study was conducted in the Department of Biochemistry, Dhaka Medical College, Dhaka from July 2014 to June 2015 with a total of 100 subjects. Of these 50 patients of BPH attending the Department of Urology, Dhaka Medical College Hospital, Dhaka was taken as Group I and 50 age-matched apparently healthy adults was taken as Group II. According to the National Cholesterol Education Program Adult Treatment Panel (NCEP-ATP III, 2005) criteria, components of MetS as fasting plasma glucose, serum triglyceride, serum HDL-C level, blood pressure, waist circumference were assessed and compared between groups by chi-square (x2) tests and unpaired student's 't' test as appropriate. A p value <0.05 at 95% CI was considered as significant. Metabolic Syndrome was significantly more common in BPH patients than that of healthy individuals (72% VS 38%, p=0.001). Mean±SD of fasting plasma glucose and serum triglycerides were significantly higher in Group I than that of Group II (5.7±0.6 mmol/l vs 5.13±0.97 mmol/l, p=0.001; and 191.3±33.9 mg/dl vs 159.2±45.5 mg/dl, p=0.001, respectively). Percentage of subjects having high blood pressure, high serum triglyceride and low serum HDL-C were significantly high in BPH patients (Group I) than that of healthy individuals of Group II (BP: 72% VS 44%, p=0.005, TG: 90% vs 54%, p=0.001, HDL-C: 72% VS 54%,p=0.001). Metabolic syndrome or its components are more common among patients with benign prostate hyperplasia. Routine investigations to detect MetS can be done to reduce the risk of cerebrovascular diseases, cardiovascular diseases and type 2 diabetes mellitus in BPH patients.Bangladesh J Med Biochem 2015; 8(2): 42-48


2018 ◽  
Vol 19 (5) ◽  
pp. 1676-1682 ◽  
Author(s):  
HARRY NUGROHO EKO SURNIYANTORO ◽  
YANTI LUSIYANTI ◽  
TUR RAHARDJO ◽  
SITI NURHAYATI ◽  
DEVITA TETRIANA

Surniyantoro HNE, Lusiyanti Y, Rahardjo T, Nurhayati S, Tetriana D. 2018. Association between XRCC1 exon 10(Arg399Gln) gene polymorphism and micronucleus as a predictor of DNA damage among radiation workers. Biodiversitas 19: 1676-1682. This study was aimed to examine the association between XRCC1 exon 10 gene polymorphism and micronucleus frequencies inradiation workers and their relation to the confounding factors. This study involved 37 radiation workers and 37 controls from severalhospitals in Indonesia. Genotyping of X-ray cross-complementing group 1 (XRCC1) exon 10 gene polymorphism and micronucleusassay were performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and Cytokinesis-Block Micronucleus assay (CBMN assay), respectively. The results indicated that MN frequencies were not significantly higher in theexposed workers than in controls (20.46±6.42 versus 16.89 ±9.72; P=0.07). The micronucleus frequencies of radiation workers withmutant genotype showed not significantly higher than controls in the same genotypes (22±6.64 versus 11.75 ± 8.13; P=0.11). Theconfounding factors, like age, years of employment and equivalent doses were significantly associated with micronucleus frequencies(P<0.05). The equivalent dose has a significantly positive correlation with micronucleus frequencies among radiation workers,increasing the MN frequencies by 16.3 per 1 mSv of equivalent dose (P=0.001). The genetic polymorphism of XRCC1 gene exon 10demonstrated no association with the extent of DNA damage in the hospital radiation workers. The MN frequencies were stronglyassociated with age, equivalent dose and years of employment.


2019 ◽  
Vol 27 (2) ◽  
pp. 159-168
Author(s):  
Abdullah Arpacı ◽  
Meral Urhan-Kucuk ◽  
Aysegul Bayramoglu ◽  
Halil İbrahim Guler ◽  
Hasret Ecevit ◽  
...  

Abstract Introduction: Hypertension (HT) is characterized by high blood pressure. The reninangiotensin-aldosterone system (RAAS) plays a crucial role in blood pressure (BP) regulation by maintaining vascular tone and the water-sodium balance. We aimed to investigate whether there is any relation between AGT (M235T), ACE (I/D), and AGTR1 (A1166C) genetic polymorphisms and hypertension among Turkish people from Southeast Anatolia. Method and Results: A total of 210 individuals, consisting of 102 healthy controls and 108 patients with essential hypertension admitted to the Cardiology Department of the Adıyaman University Research and Application Hospital were included the study. DNA isolation was performed from the blood samples via commercial kit. Genotype determination was determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Statistically significant differences were found between the control and patient groups in terms of genotype distribution and allelic frequencies of ACE I/D polymorphisms. Significant differences were found in the frequencies of ICM, DCM, DCT, DAT between the patient and control groups. Conclusions: In this study, we found a significant association of ACE I/D polymorphism with HT, and we showed that the I allele can increase the risk of HT in Turkish people from Southeast Anatolia. Although we did not find any association between independent AGT M235T and AGT1R A1166C polymorphisms and HT, we observed that the DCM, DCT, and DAT haplotypes of ACE/AGT1R/AGT polymorphisms reduced the risk of hypertension, while the ICM haplotype increased it.


Author(s):  
E Minina ◽  
V Novikova ◽  
P Novikov ◽  
A Babenko

Objective. The role of the GLCCI1 gene polymorphism (rs37973) analysis in children with bronchial asthma (BA). Methods. The study involved 60 children 3-17 years old with allergic (n=37) and mixed forms of BA (n=23). The genetic study included performing genotyping of the studied locus of the GLCCI1 gene (rs37973) by PCR-RFLP (polymerase chain reaction – restriction fragment length polymorphism). Results. Analysis of the frequency of genotypes and alleles occurrence established the predominance of heterozygotes (AG) and allele G in the study group. There were statistically significantly higher indices of VC, FVC, FEV1 and MEF75 (according to spirometry data) with a heterozygous genotype (AG) in comparison with a homozygous GG (p<0,05). At the same time, there was a statistically significantly greater number of children with a FEV1 level ≥80% (p=0,009) when comparing the same subgroups of genotypes. Conclusion. The study revealed the association of GLCCI1 gene polymorphism (rs37973) with the respiratory function according to spirometry data. The presence of a heterozygous gene variant (AG) determined higher indicators of the function of respiratory function (VC, FVC, FEV1, MEF75). The study with the establishment of the GLCCI1 gene (rs37973) genotype can be used to diagnose a prognostically favorable and unfavorable course of asthma in children, which should be taken into account when choosing various basic methods of therapy and rehabilitation.


2020 ◽  
Vol 58 (3) ◽  
pp. 281-285
Author(s):  
L. V. Topchieva ◽  
I. E. Malysheva ◽  
O. V. Balan ◽  
I. M. Marusenko ◽  
O. Yu. Barysheva

Objective: to analyze the association of the polymorphic marker rs4537545 (C>T) in the IL6R gene with the development of rheumatoid arthritis (RA) in the population of the Republic of Karelia. Subjects and methods. The investigation included 190 samples of DNA extracted from the whole blood of healthy individuals and 158 samples from patients with RA. Genotyping was performed using a polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis. The expression level of IL6 and IL6R genes in peripheral blood leukocytes (PBLs) from healthy individuals was assessed by real-time PCR. The plasma content of interleukin-6 (IL-6) in healthy donors was measured by enzyme-linked immunosorbent assay (ELISA). Results and discussion. An association of the polymorphic marker rs4537545 (C>T) in the IL6R gene with the development of rheumatoid arthritis was found in the population of the Republic of Karelia. The risk of RA in the persons carrying the T-allele of rs4537545 in the genotypes was 2.1 times higher than that in the C-allele carriers (odds ratio (OR), 2.103; 95% confidence interval, 1.032-4.287). The genotypes were ascertained to have an effect on the level of IL6R gene in PBL and on the plasma content of IL-6 in the healthy donors. Conclusion. The polymorphic marker rs4537545 (C>T) in the IL6R gene is involved in the genetic predisposition of humans to RA development through modulation of the level of transcriptional activity of the IL6R gene and the content of IL-6.


2021 ◽  
Vol 4 (1) ◽  
pp. 30-35
Author(s):  
Wasnaa J. Mohammad ◽  
Noor Alhuda Kh. Ibrahim ◽  
Shahad F . Obed ◽  
Shahad F . Obed ◽  
Mohammed Sh. Jebur

Fifty RA patients and 50 healthy individuals have been participated in this study. 196 M/R polymorphism of TNFRII gene determined by PCR-RFLP, IL-37 level was measured by ELISA technique, also RF, ACCP, CRP measured by ELISA technique. Our study shows an increase in IL-37 levels in patients was suffered from rheumatoid arthritis relative to control group. (M=101.31+10.41) That shows major differences between patients and controls (p<0.01) and increasing level of IL-37 correlate significantly with increasing level of CRP (p<0.05). The frequencies of TNFRII gene polymorphism were significantly correlate with the IL-37 level (p<0.01) in RA patients compared with control group. In conclusion, IL-37 increased in RA patients associated with disease development, also significantly associated with TNFRII polymorphism.


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