Interrelation between the rs2200733 polymorphism of the ATFB5 gene and atrial fibrillation in Uzbek patients.
Atrial fibrillation (AF) is one of the most common cardiac arrhythmias and a major predictor of morbidity and mortality. AF is a polygenic and polyetiological disease. In various ethnic groups, the strongest and most independent relationship with the development of AF was found with the 4q25 locus, where the ATFB5 gene is located. An analysis of the literature data showed that the carriage of the TT genotype of the rs2200733 ATFB5 gene polymorphism is the most unfavorable genotype for the development of AF. The purpose of the study was to identify the prevalence of genotypes and alleles of the rs2200733 polymorphism of the ATFB5 gene in Uzbek patients with AF. The study included 69 Uzbek patients with paroxysmal (n=20) and persistent AF (n=49). The control group (n=30) was composed of Uzbek patients without AF. Genotyping for the carriage of allelic variants of the rs2200733 polymorphism of the ATFB5 gene was performed using the Polymerase Chain Reaction-Restriction Length Polymorphism (PCR-RFLP) method. The distribution of the C and T alleles and the CC, CT, and TT genotypes of the rs2200733 polymorphism of the ATFB5 gene in patients with AF and controls were compared. After genotyping 69 patients with AF, the following distribution of the ATFB5 gene polymorphism rs2200733 was revealed: the CC genotype was detected in 35 (50.72%) patients, the CT genotype in 25 (36.23%) patients, and the TT genotype in 9 (13.05%) patients (p<0.001, χ²=22.435). Moreover, the C allele was detected in 95 (68.8%) patients, and the T allele was detected in 43 (31.2%) patients (p<0.001, χ²=37.696). The distribution of genotypes in the control group was as follows: the CC genotype was detected in 17 individuals (56.7%), the CT genotype was detected in 12 individuals (40%), and the TT genotype was detected in 1 individual (3.3%) (p<0.001, χ²=20.100). Moreover, the C allele was detected in 46 (76.7%) patients, and the T allele was detected in 14 (23.3%) patients (p<0.001, χ²=32.033). The TT genotype of the ATFB5 gene was found to be significantly more prevalent in patients with AF than in controls (13.1% vs 3.3%, p=0.0001). The TT genotype of the rs2200733 polymorphism of the ATFB5 gene was found to be significantly more prevalent in Uzbek patients with AF than in controls.
- Research Article
- 10.21103/article13(3)_oa3
- Sep 5, 2023
- International Journal of Biomedicine
Background: Atrial fibrillation (AF) is one of the most common cardiac arrhythmias and a major predictor of morbidity and mortality. In recent years, genome-wide association studies (GWAS) have identified common genetic variants associated with a higher risk of AF. The aim of our research was to study the possible association of the 4q25/PITX2 SNP rs6817105 with the risk of developing AF in patients with arterial hypertension (AH) in the Uzbek population. Methods and Results: The study included 142 AH (Grades 1-3; ESC/ESH, 2018) patients of Uzbek nationality who were initially diagnosed with paroxysmal form (15[10.6%]), persistent form (43[30.3%]), and permanent form of AF (84[59.1%]). The mean age of these patients was 64.8±10.9 years. AF was verified using ECG Holter monitoring. The control group (n=88) consisted of AH patients without AF with a mean age of 56.5±12.3 years. Echocardiography was carried out according to the recommendations of the American Society of Echocardiography in M- and B-modes. We genotyped SNP rs6817105 (T>C) and examined the relationships among rs6817105 genotype, clinical characteristics, and echocardiographic parameters in AH patients with AF and non-AF AH patients (controls). The rs6817105 minor C allele frequency was significantly higher in AH patients with AF than in non-AF AH patients (71.8% vs. 59.7%, P=0.007). Analysis of the multiplicative model for the rs6817105 SNP showed a significant risk of AF in the carriage of the C allele (OR=1.72, 95% CI: 1.16-2.56, P=0.007). The dominant and additive models for the rs6817105 SNP showed a significant risk of AF with the carriage of the CC+CT genotypes (OR=3.16, 95% CI: 1.37-7.27, P=0.005) and the homozygous CC genotype (OR=1.63, 95% CI: 0.95-2.81, P=0.008), respectively. The allelic distribution showed that the carriage of the C allele was dominant in permanent and persistent AF (110/68.75% vs. 50/31.25% for the T allele [(χ2=22.50, P=0.000], and 73.61% (64/74.41%) vs. 26.39% (22/25.58%) for the T allele [χ2=20.512, P=0.000], respectively). Among AH patients with paroxysmal AF, the C allele prevailed to the greatest extent: 20(90.9%) vs. 2(9.1%) for the T allele (χ2=14.727, P=0.000), indicating a significant accumulation of the C allele and CC genotype among patients with paroxysmal AF. In general, in AH patients with AF, carriers of the CC genotype, the left atrial volume index (LAVI) was significantly higher than the carriers of the CT and TT genotypes: 46.8±13.9 ml/m2 vs. 40.4±13.0 ml/m2 and 36.1±11.0 ml/m2, respectively (P=0.0083). Conclusion: Our results indicate the rs6817105 minor C allele and CC genotype are associated with the risk of developing AF in AH patients of Uzbek nationality. The highest accumulation of the rs6817105 minor C allele and CC genotype is found in paroxysmal AF. In carriers of the rs6817105 CC genotype, the LAVI was significantly larger than in carriers of the CT and TT genotypes.
- Research Article
- 10.38109/2225-1685-2020-4-30-37
- Dec 30, 2020
- Eurasian heart journal
Aim: to study the association of rs2200733 polymorphism with antiarrhythmic efficacy of amiodarone, propafenone and allapinin in the prevention of atrial fibrillation (AF) progression. Material and methods. In order to comparatively evaluate the effectiveness of antiarrhythmic drugs in the prevention of AF progression the analysis included 163 patients (54 (33.1%) – with persistent AF and 109 (66,9%) with paroxysmal) in age from 31 to 77 years (average age 52.16±12.64 years) with an initially restored sinus rhythm (pharmacological or electric cardioversion). To prevent relapse of AF one of the antiarrhythmic drugs (amiodarone, propafenone or allapinin) was recommended to patients. In order to identify the association of rs2200733 polymorphism in ATFB5 gene with AF the study included 69 patients who were initially diagnosed with paroxysmal (n=20) and persistent AF (n=49). The control group (n=30) consisted of individuals of Uzbek nationality without AF in age from 30 years to 77 years. Genotyping of samples for the allelic carriage of rs2200733 polymorphism was performed by PCR-RFLP. The results are presented as M ± SD. Results. It was shown that a persistent form of AF is prognostically unfavorable for AF progression. Moreover, in patients with AF progression the initial body mass index was significantly higher and a higher risk of developing heart failure was observed in the dynamics. The results indicate the predominance of the CC genotype and C allele of rs2200733 polymorphism in Uzbek patients with AF. A similar analysis performed in the control group (without AF) also showed a significant prevalence of the C allele and CC genotype. The association of TT genotype with a risk of AF was shown, since AF was more common among TT genotype carriers compared with CT and CC genotypes carriers (90% versus 67%, p<0.001). The limiting effect of TT carriage on the antiarrhythmic efficacy of the reference drug, amiodarone, in patients with AF was also noted. Conclusion. Thus, our study showed that the TT genotype of rs2200733 polymorphism is a genetic marker of the AF risk in Uzbek population. Carriers of TT genotype of rs2200733 polymorphism also have the most unfavorable prognosis for AF progression. Genotyping of the rs2200733 polymorphism in Uzbek patients with AF will allow differentially prescribing antiarrhythmic drugs and timely conduct procedure for radical elimination of arrhythmogenic substrate using radiofrequency ablation.
- Research Article
4
- 10.20996/1819-6446-2023-2970
- Nov 7, 2023
- Rational Pharmacotherapy in Cardiology
Aim. To study the possible relationship between polymorphic variants of ABCB1 (rs2032582, rs1045642, rs1128503), CYP3A5 (rs776746), CYP3A4 (rs35599367) and CYP2J2 (rs890293) genes with residual equilibrium concentrations (Cmin,ss) of rivaroxaban in patients with non-valvular atrial fibrillation (AF) and stage 3 and 4 chronic kidney disease (CKD).Material and methods. A total of 123 patients 52 to 97 years old (median age, 82 years) with AF in combination with stage 3 and 4 CKD were included in the study. Each patient underwent a pharmacogenetic and pharmacokinetic study.Results. Cmin,ss and dose-adjusted concentration (Cmin,ss/D) of rivaroxaban were significantly higher in patients with the TT genotype than with the CT genotype of the polymorphic variant rs1045642 of the ABCB1 gene (Сmin,ss 60,5 [36,7;173] ng/ml and 54,8 [23,1;97,3] ng/ml, respectively, р=0,016; Сmin,ss/D 4,06[2,3;8,1] ng/ml/mg and 2,2 [1,1;4,9] ng/ml/mg, р=0,006). In patients with the T allele (CT and TT genotypes), compared with CC genotype carriers, Cmin,ss and Cmin,ss/D were significantly higher (Cmin,ss 60,5 [36,7;173] ng/ml and 45,8 [20,9;82,3] ng/ml, respectively, p=0,029; Cmin,ss/D 4,06 [2,3;8,1] ng/ml/ mg and 2,6 [1,2;4,8] ng/ml/mg, respectively, p=0,014). Also, Cmin,ss and Cmin,ss/D was significantly higher in patients with the TT genotype according to the polymorphic variant rs2032582 of the ABCB1 gene than in patients with the GG genotype (p=0,02 and р=0,016 respectively). Cmin,ss and Cmin,ss/D in T allele (GT and TT genotypes) carriers were significantly higher than in T allele homozygotes (Cmin,ss 57,1 [27,7;106,0] ng/ml versus 37,6 [18,6;61,7] ng/ml respectively, p=0,024; Cmin,ss/D 3,6 [1,7;7,4] ng/ml/mg versus 2,3 [1,1;4,09] ng/ml/mg respectively, p=0,032). Differences in Сmin,ss and Сmin,ss/D of rivaroxaban were detected when comparing TC, CC and TT genotypes of polymorphism rs1128503 of the ABCB1 gene. When comparing Сmin,ss and Сmin,ss/D of rivaroxaban among carriers of AG and GG genotypes of the rs776746 polymorphism of the CYP3A56986A>G gene, no significance was detected (p>0,05). Also, no difference in Cmin,ss and Cmin,ss/D was found when comparing carriers of the CC and CT genotypes of the rs35599367 polymorphism of the CYP3A4 gene, and carriers of the CC and AC genotypes of the rs890293 polymorphism of the CYP2J2 gene (p>0,05).Conclusion. The carriage of T allele by polymorphic variants rs1045642 and rs2032582 of the ABCB1 gene affects Cmin,ss and Cmin,ss/D of rivaroxaban.
- Research Article
10
- 10.7499/j.issn.1008-8830.2105035
- Aug 15, 2021
- Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
To study the association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with susceptibility to bronchial asthma and glucocorticoid (GC) efficacy in children. A total of 173 children with bronchial asthma who were hospitalized between June 2018 and December 2020 were selected as the observation group. The children received aerosol inhalation of GC for three consecutive months. A total of 178 healthy children who underwent physical examination during the same period were selected as the control group. PCR was used to detect the genotypes of the MTHFR C677T for the two groups. The differences in genotype distribution between the two groups were analyzed. Children with different genotypes in the observation group were compared in terms of immunoglobulin E (IgE), interleukin-8 (IL-8), leukotriene B4 (LTB4), lung function, and clinical outcome before and after treatment. TT genotype and T allele were significantly more frequent in the observation group than in the control group (P<0.001). TT/CT genotypes and T allele were independent risk factors for bronchial asthma (OR=6.615 and 7.055 respectively; P<0.001). After GC treatment, the children with CC, CT or TT genotypes experienced significantly decreased levels of IgE, IL-8, and LTB4 and significantly increased forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and FEV1/FVC ratio (P<0.001). The children with TT genotype showed significantly lower levels of IL-8 and LTB4 than those with CC genotype, a significantly lower level of LTB4 than those with CT genotype, significantly higher FVC than those with CT genotype, and a significantly higher FEV1/FVC ratio than those with CC genotype (P<0.05). The children with TT genotype had better GC efficacy compared with those with CC genotype (P<0.05). TT genotype was an independent factor for good GC efficacy (OR=2.111, P=0.018). MTHFR gene polymorphism is associated with asthma susceptibility and GC efficacy in children. Children carrying TT/CT genotypes have a higher risk of developing asthma, and those with TT genotype are more sensitive to GC treatment.
- Research Article
- 10.1111/j.1540-8159.2011.03252.x
- Nov 1, 2011
- Pacing and Clinical Electrophysiology
POSTER PRESENTATIONS
- Research Article
1
- 10.54174/utjagr.v11i2.188
- Nov 3, 2022
- University of Thi-Qar Journal of agricultural research
This study was conducted in the poultry field, Animal Production Department, College of Agriculture and Marshes, University of Thi-Qar, from 10/11/2021 to 3/2/2022, the period included field and laboratory stud. A total of 100, one day broilers Ross 308 were used. Laboratory analyzes were carried out in the laboratories of the Marshes Research Center, University of Thi-Qar and the laboratories of the College of Agriculture and Marshes, University of Thi-Qar. Three genotypes CC, CT and TT were identified whose frequency was 0.52, 0.34 and 0.14 respectively and the frequency of the C allele was 0.69 and the frequency of the T allele was 0.31. There were significant differences on Water Holding Capacity (WHC) among the genotypes, the CC genotype was superior to the CT and TT genotypes. As for the thawing and cooking loss, there were no significant differences between the genotypes. A significant differences on pH values among the genotypes, the CC genotype was superior to the CT and TT genotypes. Significant differences in flavor between genotypes, the CC genotype was superior to the CT genotype, and the CT genotype was superior to the TT genotype. Highly significant differences in tenderness, the CC genotype was superior to the TT genotype, while the CT genotype did not differ significantly from the CC and TT genotypes. Highly significant differences between the genotypes in juiciness, the CC genotype was superior to the CT and TT genotypes. No significant differences in color and general acceptable.
- Research Article
- 10.1093/eurheartj/ehac544.2221
- Oct 3, 2022
- European Heart Journal
Purpose To study the features of the course of uncontrolled arterial hypertension (AH) in the Aral Sea region with the identification of the prevalence of various genotypes of the angiotensinogen (AGT) gene in patients with uncomplicated hypertensive crisis. Methods The genetic part included 94 patients with uncomplicated hypertensive crisis, an average age of 55.3±8.6 years, 54 (58.3%)women and 40 men (41.7%). The control group consisted of 50 healthy women and men, an average age of 52.7±6.4 years in equal proportion. The genetic study was carried out by real-time PCR with the determination of the prevalence of genotypes and alleles of genetic polymorphisms AGT 521 C&gt;T, AGT 704 T&gt;C. Results Patients with uncomplicated hypertensive crisis were characterized by LV hypertrophy, thickening of the intima-media thickness of the common carotid artery, and kidney damage. Henken's test showed that patients with AH require a significantly higher concentration of table salt to determine the threshold of taste sensitivity than in the control group: 0.51±0.17% versus 0.21±0.14% concentration of NaCl. The distribution of 704T&gt;C genotypes of the AGT gene polymorphism was as follows: CC genotype 43.6%, CT genotype 45.8%, TT genotype 10.6% of cases, χ2=32.777, p=0.000; C allele – 66.5%, T allele - 33.5% of cases, χ2=40.894, p=0.000. Among healthy individuals, the distribution by genotypes showed a significant predominance of the CC genotype: CC 76%, CT 24%, TT genotype was not detected in the presented sample, χ2=67.92, p=0.000; C-allele 88%, T-allele 12%, χ2=115.52, p=0.000. The above data of the group of patients and healthy people corresponded to the theoretical Hardy-Weinberg equilibrium. The distribution of 521T&gt;C genotypes of the AGT gene polymorphism among AH patients was as follows: CC genotype – 79.8%, CT genotype – 16%, TT genotype – 4.2% of cases, χ2=139.8, p=0.000; C-allele – 87.8%, T-allele – 12.2%, χ2=214.5, p=0.000. Among healthy individuals, a significant predominance of the CT genotype was shown: CC genotype – 40%, CT genotype – 60% of cases, χ2=42.0, p=0.000; C-allele – 70%, T-allele – 30%, χ2=32.0, p=0.000. The above data of the group of patients and healthy people did not correspond to the theoretical Hardy-Weinberg equilibrium Conclusion Patients with uncomplicated hypertensive crisis, living in the aral sea region, are characterized by severe damage of target organs, a high threshold of taste sensitivity to table salt. Based on genetic models of inheritance, a significant prevalence of the C-allele and CC genotype 704 T&gt;C AGT gene polymorphism in healthy individuals was revealed, which characterizes the C-allele and CC genotype as protective against AH in people of the Aral Sea region. Significantly greater accumulation of the C-allele 521 C&gt;T polymorphism of the AGT gene among AH patients is a factor of predisposition to a complicated course of AH in people of the aral sea region. Funding Acknowledgement Type of funding sources: None.
- Research Article
13
- 10.1007/s40291-015-0154-3
- Aug 19, 2015
- Molecular Diagnosis & Therapy
Chemotherapy is the standard and recommended treatment for lung cancer apart from surgery and radiotherapy. Chemotherapy is administered as mono-agents or as combination therapy. In this study, we examined the role of MDR1 C3435T polymorphisms in lung cancer patients undergoing chemotherapy. We genotyped 126 cases with lung cancer and 111 healthy controls, using the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). Frequencies of MDR1 C3435C, C3435T and T3435T genotypes were 61, 16 and 23% in lung cancer patients and 86, 9 and 5% in the controls, respectively. The T3435T genotypes had a 5.23-fold increased risk for lung cancer. (OR 5.23; 95% CI 2.082-13.146; p=0.0004). Patients with TT genotypes were more frequent in stage IV and were significantly associated with the disease (p=0.05). Habitual smoker lung cancer patients were 50% CC genotypes whereas TT genotypes were 34%. The non-smokers had 46% CC genotypes and 23% TT genotypes. Furthermore, we collected tissue biopsy samples for expression analysis from 20 patients (for controls we used the non-cancerous region of the same tissue). The present study showed mRNA expression of MDR1 was up-regulated in 80% of the cancer group in comparison with the control group (p=0.0002). We also correlated the association between MDR1 genotypes with different combinations of chemotherapy. The combinations and genotype distributions in the group receiving paclitaxel+cisplatin were as follows: CC (67%), CT (24%) and TT (9%) genotypes, respectively, and the group receiving carboplatin+gemcitabine CC (46%), CT (19%) and TT (35%) genotypes, respectively. We found that MDR1 (rs1045642) C3435T polymorphism and gene expression was significantly associated with the clinical outcome in lung carcinoma patients. In conclusion, it is suggested that MDR1 TT genotypes had higher risk for the development of lung cancer. Also, this polymorphism could be used as a genetic marker for predicting the clinical outcome of lung cancer patients.
- Abstract
4
- 10.1182/blood.v118.21.1692.1692
- Nov 18, 2011
- Blood
Multidrug Resistance Gene (MDR1) C3435T Polymorphism and Imatinib Response in Patients with Chronic Myeloid Leukemia
- Research Article
- 10.21931/rb/css/2023.08.02.88
- Sep 15, 2023
- Bionatura
One day, 100 birds of commercial broiler Ross308 were used. The results showed the success of the amplification process for the studied segment of the CAPN1 gene through electrophoresis assay. Three genotypes, CC, CT and TT, were identified, whose frequency was 0.52, 0.34 and 0.14, respectively. C allele frequency was 0.69, and the T allele was 0.31. There are no significant differences in body weight and weight gain among CC, CT and TT genotypes. The results showed that there were highly significant differences (P<0.01) in the Water Holding Capacity (WHC) among the genotypes. The CC genotype was superior to the CT and TT genotypes. Also, there were significant differences in the pH values (P<0.01) among the genotypes. CC genotype was superior to the CT and TT genotypes. There were significant differences in flavor between the genotypes; the CC genotype was superior to the CT genotype, and the CT genotype was superior to the TT genotype. There are significant differences (P<0.01) in tenderness. CC genotype was superior to the TT genotype. CT genotypes did not differ significantly from the CC and TT genotypes. There was a highly significant difference (P<0.01) among the genotypes on the juiciness. The CC genotype was superior to the CT and TT genotypes—no significant differences in color and generally acceptable. Keywords: genetic analysis, polymorphisms, CAPN1 gene, productive, meat qualitative, broiler.
- Research Article
- 10.3760/cma.j.issn.1008-1372.2013.07.009
- Jul 20, 2013
- 中国医师杂志
Objective To investigate the correlation between CD40-1C/T gene polymorphism and serum soluble CD40L (sCD40L) expression in cerebral infarction.Methods According to the inclusion and exclusion criteria,select the acute large artery atherosclerosis in patients with cerebral infarction as the case group,select the same period without a history of stroke examination subjects as the control group.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology was used to detect CD40 gene polymorphism and sequencing,double-antibody sandwich enzyme-linked immunosorbent assay (ELISA) was used to detect the expression levels of serum sCD40L.Results A total of 209 patients with large artery atherosclerotic cerebral infarction (case group) and 87 subjects without history of stroke (control group) were included.The CC genotype (31.6%) and C allele frequency (53.8%) of the case group were significantly higher than that of the control group (17.2%,39.1%) (x2 =6.94,10.69,P <0.01).Case group serum sCD40L expression level was significantly higher than those in the control group [(3.97 ± 1.20) vs (2.69 ±0.88)] (t =10.19,P <0.001).Case group serum sCD40L expression level was different among CC,CT,and TT genotypes (F =19.22,P <0.001),serum sCD40L level (4.55± 1.16) of CC genotype in patients was significantly higher than that of CT (3.93 ± 1.17) and TT genotypes (3.27 ± 0.90),serum sCD40L level (3.93 ± 1.17) of CT genotype in patients was significantly higher than the TT genotype (3.27 ±0.90).The serum sCD40L expression level of the control group in the CC,CT,TT has no statistically significant differences among various genotypes [(2.91 ±0.79),(2.67 ±0.89),(2.61 ±0.91),F =0.619,P =0.541).Conclusions CD40-1C/T gene polymorphism is associated with serum sCD40L expression level in cerebral infarction,serum sCD40L level of the CC genotype was significantly higher. Key words: Brain infarction; CD40 ligand; Polymorphism, genetic; Polymorphism, restriction fragment length; Antigens, CD40
- Research Article
1
- 10.15419/bmrat.v5i02.420
- Mar 9, 2018
- Biomedical Research and Therapy
Introduction: Beta three adrenergic receptor (ADRB3) is an adrenergic receptor that induces activation of adenylate cyclase located mainly in adipose tissue and is involved in the thermogenesis of brown fat tissue and in the regulation of lipolysis. Agonists of ADRB3 are found to induce the thermogenesis process of human brown fat tissue and thus believed to be excellent anti-obesity targets. The most studied single nucleotide polymorphism (SNP) of ADRB3 is rs4994. Inconsistent findings have been found in earlier studies about the association of rs4994 polymorphisms with obesity among different populations. The association of ADRB3/rs4994 polymorphism with obesity among the Saudi population is unknown. This study aimed to investigate the association of ADRB3/rs4994 polymorphism with obesity, blood lipids and blood pressure in the Saudi population.
 Method: This study was a case control study involving 88 obese healthy volunteers and 84 non-obese (controls) volunteers recruited from the King Khaled University Hospital (KKUH), Riyadh City, Saudi Arabia. Using KASPTM (Competitive Allele-Specific PCR) the rs4994 genotype for each participant was determined. The frequency, distribution, and association of each genotype with body mass index (BMI) and lipid profile were calculated.
 Results: The distribution of CC, TT and CT genotypes in the study population was 0.37, 0.06 and 0.56, respectively. The heterozygote CT genotype was associated with a reduced risk of obesity (odds ratio (OR)=0.4398, 95%CI=0.2338 to 0.8277, P-value=0.010). It was more frequent in the non-obese participants compared to the obese participants (67.9% vs. 44.3%, respectively). Moreover, participants with the CT genotype had a significantly lower BMI (P=0.004). In contrast, the CC genotype was associated with an increased risk of obesity (OR=2.5, 95%CI=1.3467 to 4.8758, P-value=0.004). The frequency of the CC genotype was higher in obese participants compared to the non-obese ones (46.6% vs. 28.6%, respectively). Participants with the CC genotype demonstrated a significantly higher BMI than participants with the CT or TT genotypes (Q= 4.5, P=0.004). The TT genotype had no significant effects on the participants’ BMI (OR=2.9, 95%CI=0.7563 to 11.5759, P value=0.11), and it was higher in obese compared to non-obese participants (9.1% vs. 3.6%, respectively). No significant effect of ADRB3/rs4994 polymorphism on blood lipid profile or blood pressure was observed.
 Conclusion: The findings of this study suggested that the heterozygote CT genotype of the ADRB3/rs4994 polymorphism is associated with a reduced risk of obesity among the Saudi population. In the future, larger scale studies are required to further confirm these observations.
- Research Article
110
- 10.1016/j.arcmed.2007.07.009
- Oct 15, 2007
- Archives of Medical Research
The 677 C/T MTHFR Polymorphism is Associated with Essential Hypertension, Coronary Artery Disease, and Higher Homocysteine Levels
- Research Article
- 10.33145/2304-8336-2016-21-312-321
- Jan 1, 2016
- Проблеми радіаційної медицини та радіобіології = Problems of Radiation Medicine and Radiobiology
This study consisted in examination the features of structural and functional state of the cardiovascular system in emergency workers (EW) of the Chernobyl nuclear power plant (ChNPP) who suffered from coronary heart disease (CHD) and having different genotypes due to polymorphism rs966221 phosphodiesterase 4D (PDE4D) gene. The study involved 121 EW and 63 non irradiated patients with CHD. Standardized survey included echo doppler cardiography (EchoCG) that was done by Diagnostic Ultrasound System DS N3 (Mindray). Polymorphism rs966221 PDE4D determined by polymerase chain reaction followed by restriction reaction products. The distribution of genotypes PDE4D in EW was as follows: CC - 42, CT - 49 and TT - 30 patients. In the con trol group, carriers of the same genotypes were 27, 21 and 15 persons respectively. All echocardiographic parame ters in EW workers and non irradiated patients did not differ significantly. Amongst TT genotype carriers of both groups the proportion of patients with increased myocardial mass index was the highest (82.9%) compared to CC genotype (78.4%) and CT (71.4%). The concentric type of left ventricular (LV) hypertrophy was found in 54.9% of patients with CC genotype, in 51.8% with CT genotype and 45.7% with TT genotype, while the eccentric type in 23.5, 21.4 and 37.1% respectively. The relative number of people with high LV end diastolic volume (EDV) normalized by body surface area (BSA) was 27.5% in CC genotype carriers, 26.8% in CT genotype and 40% in TT genotype carriers (p > 0.05). The increase of BSA indexed LV end systolic volume (ESV) was found in 27.5, 30.4 and 28.6%, and the ejection fraction in 15.7, 23.2 and 22.9% respectively. The largest number of CHD patients with inadequate dias tolic function was in carriers of TT genotype (75%) compared with the data in CC (66.7%) and CT genotypes (42.9%) carriers. In patients with the same genotype, both EW and non irradiated persons there were virtually no dif ferences in indicators of the structural and functional status of LV. The analysis of changes of LV structure the fol lowing feature was revealed: eccentric type of LV hypertrophy was more common for patients with TT genotype, but concentric type for CC genotype carriers. In one third of patients with CC and CT genotypes and in 40% of TT geno type carriers it was observed LV systolic function disorders. Diastolic dysfunction manifested as often in patients with TT genotype compared with CC and CT genotypes carriers.
- Research Article
1
- 10.1097/md.0000000000018937
- Jan 31, 2020
- Medicine
This study is to investigate the relationship of P-selectin (Ps) gene rs1800807 and rs1800808 polymorphisms with plasma soluble P-selectin (sPs) in Han, Uygur, and Kazakh people with atrial fibrillation (AF) and thromboembolism (TE) in Xinjiang, China.A total of 778 Han patients (including 131 patients with AF and TE, 229 patients with AF and 418 healthy individuals), 660 Uygur patients (including 118 patients with AF and TE, 232 patients with AF and 310 healthy individuals), and 505 Kazakh patients (including 42 patients with AF and TE, 156 patients with AF and 307 healthy individuals) were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism and direct DNA sequence analysis were used to analyze the polymorphisms of rs1800807 and rs1800808 of Ps gene. ELISA was used to determine the plasma sPs level. The association between plasma sPs levels and Ps gene polymorphisms was further analyzed.The sPs concentrations of GG genotype at rs1800807 locus in the Han, Uygur and Kazakh ethnic groups in Xinjiang, China were significantly higher than those of the CC genotype and CG genotype (P < .05). In the rs1800808 locus, plasma sPs concentrations of the heterozygous mutant CT genotypes in Han and Uygur populations were significantly higher than those in the CC and TT genotypes, whereas the plasma sPs concentrations in Kazakh TT genotypes were significantly higher than those in the CC and CT genotypes (P < .05). Among different ethnic groups, there were significant differences in sPs levels of rs1800807 and rs1800808 genotypes (P < .05).Plasma sPs concentrations are associated with Ps genotypes and sPs concentration of the same genotype shows racial differences.