scholarly journals The role of certain genetic polymorphism in development of sudden cardiac death in the Trans-Baikal Territory

2021 ◽  
pp. 35-42
Author(s):  
D.N. Zaitsev ◽  
◽  
P.V. Vasilenko ◽  
A.V. Govorin ◽  
E.A. Vasilenko ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Single Nucleotide Polymorphism ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Statistical Significance ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Aim of the study. To study genetic polymorphisms rs10798 KCNQ1, rs3010396 CASQ2, rs20455 KIF6, rs2298566 SNX19, rs12143842 NOS1AP of subjects who died due to sudden cardiac death in Trans-Baikal Territory. Material and Methods. Over the period of 2017-2020, a total of 2211 autopsy protocols of subjects who died due to SCD were analysed. Th ese patient constituted the 1st study group (n=113). The control group consisted of healthy volunteers (n=70). The groups were comparable in age and gender. Molecular and genetic typing of the studied genes was performed. Results. The CC genotype of the single-nucleotide polymorphism rs3010396 CASQ2 showed statistical signifi cance in comparison with the control group(the chi-squared=26.95, df=2, p=0.001). The TT genotype was predominant in the control group amounting to 60% against 19.5% in the study group. Single-nucleotide polymorphism rs2298566 of gene SNX19 was also observed to be of statistical significance in the group of subjects who died from myocardial infarction. In the group of patients with SCD, rs20455 KIF6 and rs12143842 NOS1AP were of signifi cance along with rs3010396 CASQ2. Conclusion. Single-nucleotide polymorphism rs3010396 of the CASQ2 gene can be a predictor of sudden cardiac death, since in the 1st study group with this genotype showed its statistical signifi cance in all nosological groups. However, in the group, in which sudden cardiac death (cases coded I46.1 according to ICD-10) was indicated as the fi nal diagnosis, in addition to their statistical signifi cance single-nucleotide polymorphisms of the gene KIF6 rs20455, rs12143842 NOS1AP gene were noted; in the group where the cause of death was myocardial infarction, rs2298566 SNX19 gene polymorphism had statistical signifi cance. The results obtained make it possible to consider these polymorphisms as possible predictors of sudden cardiac death in the population of the Trans-Baikal Territory.

scholarly journals Association of single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529 with sudden cardiac death

2019 ◽  
pp. 35-41
Author(s):  
A. A. Ivanova ◽  
V. N. Maksimov ◽  
S. K. Malutina ◽  
V. P. Novoselov ◽  
M. I. Voevoda
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Sudden Cardiac Death ◽  
Single Nucleotide Polymorphisms ◽  
Cardiac Death ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

Aim. To confirm the association between sudden cardiac death (SCD) and single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529, identified in own genome-wide associative study as new molecular genetic markers of SCD.Material and methods. As design we used case-control study. The SCD group was formed using the SCD criteria of the European Society of Cardiology (n=438, average age 53,2±9,1 years, male — 72,7%, women — 28,3%). The control group (n=435, average age 53,2±8,9 years, men — 70,0%, women — 30,0%) was selected by gender and age for the SCD group from the DNA bank of the international projects MONICA and HAPIEE. DNA was isolated by phenol-chloroform extraction from myocardial tissue in the SCD group and venous blood in the control group. Genotyping was performed by polymerase chain reaction followed by analysis of estriction fragment length polymorphism. The results are statistically processed using the SPSS 16.0 software package.Results. No carriers of the rare allele A of the single nucleotide polymorphism rs74765750 were found in the SCD group and the control group. No statistically significant differences were found between the SCD group and the control group relating to frequencies of genotypes and alleles of single nucleotide polymorphisms rs7164665 and rs71461059. In the age group older than 50 years, the proportion of carriers of the heterozygous CT genotype of the single nucleotide polymorphism rs6762529 in the SCD group is statistically significantly lower compared to the control group (CT vs CC+TT: OR=0,686, 95% CI 0,483-0,967 p=0,035).Conclusion. The CT genotype of the single nucleotide polymorphism rs6762529 is associated with a protective effect on SCD for people over 50 years of age. The association with single nucleotide polymorphisms rs7164665, rs71461059, rs74765750 with SCD has not been confirmed.

scholarly journals Association of single-­nucleotide polymorphisms rs10867772, rs4700290 with sudden cardiac death

2021 ◽  
Vol 17 (1) ◽  
pp. 7-11
Author(s):  
A. A. Ivanova ◽  
S. K. Malyutina ◽  
V. P. Novoselov ◽  
I. A. Rodina ◽  
O. V. Khamovich ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Single Nucleotide Polymorphisms ◽  
Cardiac Death ◽  
Statistical Significance ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genotype Frequencies

The aim of the research is to verify the association with sudden cardiac death (SCD) of single nucleotide polymorphisms rs10867772 and rs4700290, identified as new molecular genetic markers of SCD in the own genome-wide pooled allelotyping.Material and methods. Case-control study. The SCD group is formed using the criteria of the European Society of Cardiology from the DNA bank of suddenly deceased residents of the Oktyabrsky district of Novosibirsk (n = 437, average age—53.1 ± 9.0 years, men — 73.5%, women — 26.5%) The control group (n = 405, average age 53.2 ± 9.2 years, men — 70.0%, women — 30.0%) is formed from the DNA bank of participants of MONICA and HAPIEE projects. DNA was isolated by phenol-­chloroform extraction from myocardial tissue in the SCD group and venous blood in the control group. Genotyping was performed by the PCR-RFLP method.Results. No statistical significance was found in allele and genotype frequencies of rs10867772 and rs4700290 between groups, even in separating in sex and age (p> 0.05). Conclusion. Single nucleotide polymorphism rs10867772 and rs4700290 are not associated with SCD.

scholarly journals THE PROGNOSTIC SIGNIFICANCE OF TET2 SINGLE NUCLEOTIDE POLYMORPHISM IN EGYPTIAN CHRONIC MYELOID LEUKEMIA

2020 ◽  
Vol 12 (1) ◽  
pp. e2020004
Author(s):  
Enas A Dammag ◽  
Nahla A.M. Hamed ◽  
Nabil A El Halawani ◽  
Heba S Kassem ◽  
Mona W Ayad
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Statistical Significance ◽  
Control Group ◽  
Spleen Size ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Prognostic Criteria ◽  
And Control

Background: Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm. The pathogenesis of CML is based on the oncoprotein termed BCR‐ABL1. TET2 initiates DNA demethylation and is frequently mutated in hematological malignancies including CML.(1) The relation between TET2 acquisition and CML transformation and/or imitinab resistance is needed to be investigated. (2) Aim: To evaluate Ten Eleven Translocation 2 gene (TET2) single nucleotide polymorphism (SNP) (rs2454206, rs34402524, rs61744960) in chronic myeloid leukemia (CML) in relation to the disease prognostic criteria. Materials & Method: The study included 84 subjects; 54 CML in chronic phase and 30 healthy subjects as control group matched for age and sex. Routine investigations including CBC, bone marrow aspiration, biochemical investigations and molecular study were performed in CML patients to identify the disease stage. DNA extraction and SNP assay for TET2 gene polymorphism was done using (Thermo-Fisher predesigned SNP, USA) PCR prism 7500. Results: The mean age was 45.98±15.7 yrs in CML patients and   39.3±6.587 yrs in control group (p>0.05). TET2 SNP rs 34402524 was either heterozygous and homozygous in CML (48%,and 46.2%) but was mainly homozygous among control (80%) group (p=0.012). TET2 SNP rs 2454206 cases within CML (65.4%) and control (63.3%) group had wild patterns (p=0.046). TET2 SNP rs 61744960 showed a homozygous pattern among all groups (CML and control) showing no statistical significance (p=0.528). TET2 SNP in CML cases did not alter the prognostic criteria as no statistical significance was noted (p>0.05) yet, it was significantly related to spleen size in rs 34402524 where homozygous group had huger sizes and higher BCR-ABL1 levels 6 months after starting TKIs (p<0.05). Conclusions/Recommendation: TET2 SNP is a common in Egyptian chronic myeloid leukemia. TET2 SNP rs 3442524 was associated with huger spleen size and higher BCR-ABL1 levels after 6 months of starting TKIs suggesting disease progression.

scholarly journals Influence of a single-nucleotide polymorphism of AKT1 (rs2498796) and HEY2 (rs13328928) genes on the risk of endometrial cancer in women of the Republic of Tatarstan

2019 ◽  
Vol 100 (5) ◽  
pp. 769-773
Author(s):  
R I Gabidullina ◽  
F R Nukhbala ◽  
G A Smirnova ◽  
Yu I Orlova ◽  
A A Shakirov ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Endometrial Cancer ◽  
Statistical Significance ◽  
Control Group ◽  
Endometrioid Carcinoma ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cancer Group ◽  
The Republic ◽  
Group 2

Aim. To analyze the prevalence of different polymorphisms of AKT1 gene (rs2498796) and HEY2 gene (rs13328928) and to determine the association of revealed polymorphisms with the risk of endometrioid carcinoma in women living in the Republic of Tatarstan. Methods. 161 female citizens of Tatarstan were enrolled. The study group included 60 patients with endometrial cancer (endometrioid carcinoma) and the control group enrolled 101 women without endometrial pathology. The age of the subjects ranged from 41 to 91 years. The single-nucleotide polymorphism of AKT1 gene (rs2498796) and HEY2 gene (rs13328928) was determined by real-time polymerase chain reaction. We ran a 2 test and evaluated the odds ratio. Results. The risk of endometrial cancer was higher in carriers of homozygous T/T genotype of AKT1 gene (rs2498796) without statistical significance (OR=1.61, 95% CI=0.614.21, p=0.62). Homozygous C/C genotype of HEY2 gene (rs13328928) with the mutant allele C was observed in endometrial cancer group with a frequency of 0.383 and 0.287 in the control group (2=1.70, p=0.43). The risk of endometrial cancer was higher in the group of homozygous C/C genotype without statistical significance (OR=1.54, 95% CI=0.793.03, p=0.43). Conclusion. Among 161 females citizens of the Republic of Tatarstan included into the study, the associations of the mutant alleles of AKT1 gene (rs2498796) and HEY2 gene (rs13328928) with the risk of endometrial cancer were not identified; the prevalence of alleles and genotypes was found to be comparable with the European one.

scholarly journals New insight on the Xq28 association with systemic sclerosis

2013 ◽  
Vol 72 (12) ◽  
pp. 2032-2038 ◽  
Author(s):  
F David Carmona ◽  
M Carmen Cénit ◽  
Lina-Marcela Diaz-Gallo ◽  
Jasper C A Broen ◽  
Carmen P Simeón ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Systemic Sclerosis ◽  
Meta Analysis ◽  
Conditional Logistic Regression ◽  
Statistical Significance ◽  
The Other ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Conditional Logistic Regression Analysis

ObjectiveTo evaluate whether the systemic sclerosis (SSc)-associated IRAK1 non-synonymous single-nucleotide polymorphism rs1059702 is responsible for the Xq28 association with SSc or whether there are other independent signals in the nearby methyl-CpG-binding protein 2 gene (MECP2).MethodsWe analysed a total of 3065 women with SSc and 2630 unaffected controls from five independent Caucasian cohorts. Four tag single-nucleotide polymorphisms of MECP2 (rs3027935, rs17435, rs5987201 and rs5945175) and the IRAK1 variant rs1059702 were genotyped using TaqMan predesigned assays. A meta-analysis including all cohorts was performed to test the overall effect of these Xq28 polymorphisms on SSc.ResultsIRAK1 rs1059702 and MECP2 rs17435 were associated specifically with diffuse cutaneous SSc (PFDR=4.12×10−3, OR=1.27, 95% CI 1.09 to 1.47, and PFDR=5.26×10−4, OR=1.30, 95% CI 1.14 to 1.48, respectively), but conditional logistic regression analysis showed that the association of IRAK1 rs1059702 with this subtype was explained by that of MECP2 rs17435. On the other hand, IRAK1 rs1059702 was consistently associated with presence of pulmonary fibrosis (PF), because statistical significance was observed when comparing SSc patients PF+ versus controls (PFDR=0.039, OR=1.30, 95% CI 1.07 to 1.58) and SSc patients PF+ versus SSc patients PF− (p=0.025, OR=1.26, 95% CI 1.03 to 1.55).ConclusionsOur data clearly suggest the existence of two independent signals within the Xq28 region, one located in IRAK1 related to PF and another in MECP2 related to diffuse cutaneous SSc, indicating that both genes may have an impact on the clinical outcome of the disease.

scholarly journals Diagnostic Application of Postmortem Cardiac Troponin I Pericardial Fluid/Serum Ratio in Sudden Cardiac Death

Diagnostics ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 614
Author(s):  
Diana Hernández-Romero ◽  
María del Rocío Valverde-Vázquez ◽  
Juan Pedro Hernández del Rincón ◽  
José A. Noguera-Velasco ◽  
María D. Pérez-Cárceles ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Sudden Cardiac Death ◽  
Cardiac Troponin ◽  
Cardiac Death ◽  
Troponin I ◽  
Sampling Site ◽  
Pericardial Fluid ◽  
Cardiac Troponin I ◽  
Control Group ◽  
Complementary Method

In approximately 5% of unexpected deaths, establishing a conclusive diagnosis exclusively on the basis of anatomo-pathological findings in a classic autopsy is difficult. Postmortem biomarkers have been actively investigated as complementary indicators to help to reach valid conclusions about the circumstances of death. Several studies propose either the pericardial fluid or peripheral veins as a location for troponin determination, but the optimum sampling site is still a matter of debate. Our objective was to evaluate the association between the ratio of troponin values in the pericardial fluid and serum (determined postmortem) and the diagnosis of acute myocardial infarction (AMI) in the context of sudden cardiac death. We included 175 forensic cases. Two groups were established: AMI deaths (48; 27.4%) and the control group (127; 72.6%). The cardiac Troponin I (cTnI) values in the pericardial fluid and the troponin ratio were found to be associated with the cause of death. Univariate regression analyses showed that both age and the cTnI ratio were significantly associated with the diagnosis of AMI death. In a multivariate analysis, adjusting for confounding factors, the age and cTnI ratio were independent predictors of death from myocardial infarction. We performed a receiver operating characteristic (ROC) curve for the cTnI ratio for AMI death and selected a cut-off point. Our biomarker was found to be a valuable and highly effective tool for use in the forensic field as a complementary method to facilitate diagnosis in nonconclusive autopsies.

scholarly journals Association between CTSS gene polymorphism and the risk of acute atherosclerotic cerebral infarction in Chinese population: a case–control study

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Lian Luo ◽  
Mingli Zhu ◽  
Jiajun Zhou
Keyword(s):  
Cerebral Infarction ◽  
Case Control Study ◽  
Case Control ◽  
Cathepsin S ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Independent Risk Factors ◽  
Control Study

Objective: To investigate the association between the gene polymorphisms of rs774320676, rs768437857, rs928508030, and rs2275235 loci of Cathepsin S (CTSS) and risk of acute atherosclerotic cerebral infarction. Methods: A total of 315 patients with acute atherosclerotic cerebral infarction (study group) and 220 healthy subjects (control group) were enrolled in the present study. The genetic polymorphism of rs774320676, rs768437857, rs928508030, and rs2275235 loci of CTSS of subjects was analyzed by PCR-Sanger sequencing. Results: The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of CTSS in study group was significantly higher than the proportion in control group (P=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200–1.460; P<0.001, adjusted OR = 1.185, 95% CI = 1.055–1.314; P=0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of CTSS were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020–4.652, P=0.006; OR = 2.016, 95% CI = 1.031–4.385, P=0.031). Conclusion: The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of CTSS gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of CTSS were genetic susceptibility genes of acute atherosclerotic cerebral infarction.

scholarly journals Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women

2021 ◽  
Vol 48 (1) ◽  
pp. 69-79
Author(s):  
Amer Mahmoud Sindiani ◽  
Osamah Batiha ◽  
Esra’a Al-zoubi ◽  
Sara Khadrawi ◽  
Ghadeer Alsoukhni ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Statistical Significance ◽  
Ovarian Response ◽  
Control Group ◽  
P Value ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Poor Ovarian Response ◽  
Single Nucleotide ◽  
Number Of Patients

Objective: Poor ovarian response (POR) refers to a subnormal follicular response that leads to a decrease in the quality and quantity of the eggs retrieved after ovarian stimulation during assisted reproductive treatment (ART). The present study investigated the associations of multiple variants of the estrogen receptor 2 (ESR2) and follicle-stimulating hormone receptor (FSHR) genes with POR in infertile Jordanian women undergoing ART.Methods: Four polymorphisms, namely ESR2 rs1256049, ESR2 rs4986938, FSHR rs6165, and FSHR rs6166, were investigated in 60 infertile Jordanian women undergoing ART (the case group) and 60 age-matched fertile women (the control group), with a mean age of 33.60±6.34 years. Single-nucleotide polymorphisms (SNPs) were detected by restriction fragment length polymorphism and then validated using Sanger sequencing.Results: The p-value of the difference between the case and control groups regarding FSHR rs6166 was very close to 0.05 (p=0.054). However, no significant differences were observed between the two groups in terms of the other three SNPs, namely ESR2 rs1256049, ESR2 rs4986938, and FSHR rs6165 (p=0.561, p=0.433, and p=0.696, respectively).Conclusion: The association between FSHR rs6166 and POR was not statistically meaningful in the present study, but the near-significant result of this experiment suggests that statistical significance might be found in a future study with a larger number of patients.

scholarly journals Association of rs556621 Polymorphism with Development of Stroke in Patients with Cardiovascular Pathology

2019 ◽  
Vol 15 (5) ◽  
pp. 634-640
Author(s):  
S. Yu. Nikulina ◽  
V. A. Shulman ◽  
A. A. Chernova ◽  
S. V. Prokopenko ◽  
D. A. Nikulin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Arterial Hypertension ◽  
Main Group ◽  
Lipid Lowering ◽  
Control Group ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cardiovascular Pathology ◽  
Supraventricular Tachycardias ◽  
Brachiocephalic Arteries

Aim. To study the association of single nucleotide polymorphism rs556621 (G> T) with development of stroke in patients of the East Siberian population with cardiovascular pathology and risk factors.Material and methods. The study involved 260 patients (157 men and 103 women) with stroke (mean age 57.0 [51.0-62.0]) and 272 patients (170 men and 102 women) of the control group (mean age 55.0 [51.0-62.0]). The examination of the main group included: collection of complaints, anamnesis, clinical examination, computed tomography of the brain, electrocardiography, echocardioscopy, ultrasound duplex scanning of extracranial brachiocephalic arteries, daily blood pressure and heart rate monitoring, analysis of the blood coagulation system. The patients of the main group have arterial hypertension, paroxysmal supraventricular tachycardias, dyslipidemia, atherosclerosis of the brachiocephalic arteries, disorders of the hemostatic system. The control group was studied in the framework of the HAPIEE international project. Molecular genetic research was performed by real-time polymerase chain reaction.Results. There were no statistically significant differences in the frequencies of genotypes and single nucleotide polymorphism rs556621 alleles (G>T) in the subgroup of patients with stroke and those in the control group. The frequency of the rare TT genotype among patients with stroke was 13.3%±4.16, among healthy individuals – 8.8±3.37% (p=0.1). Gender differences when comparing the frequencies of genotypes and alleles were also not detected (p>0.05). The frequencies of the TT genotype were approximately the same in the subgroup of patients with arterial hypertension (13.1%±4.22) and in the control group (7.4±5.25%; p>0.05). No significant differences were observed in the frequencies of the rare genotype of the studied polymorphism in the subgroup of patients with supraventricular tachycardias (20.0±14.37%), hypercoagulability (15.9±7.64%) and the control group (8.8±3.37%), p>0.05. A statistically significant relationship was found between the rare genotype TT of single nucleotide polymorphism rs556621 (G>T) and the development of stroke in patients with dyslipidemia and atherosclerotic lesions of the coronary arteries (p=0.041; odds ratio 1.86, 95% confidence interval 1.02-3.41).Conclusion. The genotype of TTs of single nucleotide polymorphism rs556621 (G> T) increases the risk of developing stroke in patients with dyslipidemia and atherosclerosis of the brachiocephalic arteries compared with carriers of the GG and GT genotypes. The obtained data are recommended to be considered when prescribing lipid-lowering and antithrombotic therapy. 

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