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.

Genome-Wide Single-Nucleotide Polymorphism-Array Based Karyotyping Detects Clonal Aberrations, and Predicts the Risk of Imatinib Failure In Chronic Myeloid Leukemia.

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 3387-3387
Author(s):  
Boram Han ◽  
Jungwon Huh ◽  
Jun Ho Yi ◽  
Ha Yeon Lee ◽  
Jong-Won Kim ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chronic Myeloid Leukemia ◽  
Treatment Outcomes ◽  
Copy Number ◽  
Myeloid Leukemia ◽  
Conflicts Of Interest ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genome Wide ◽  
Prediction Of Prognosis

Abstract Abstract 3387 Background: The current study investigated the diagnostic and clinical role of genome-wide, single nucleotide polymorphism arrays (SNP-A) which can detect microscopic copy number changes in chronic myeloid leukemia (CML). Methods and Materials: Genome-Wide Human SNP 6.0 Array (Affymetrix, CA, USA) was used for SNP-A karyotyping analysis in 132 CML patients. All patients were treated with imatinib and treatment outcomes were compared according to the presence of clonal aberrations (CAs) detected by SNP-A or additional cytogenetic abnormalities (ACAs) detected by metaphase cytogenetics (MCs). Result: Forty four clonal aberrations were identified in addition to t(9;22) (40 losses, 2 gains, 2 loss of heterozygosity [LOH]) that were not detected by MCs. The 9q34 deletions were found in 11% of cases, while 22q11.2 deletions were observed in 14% of cases. Nine cases harbored both 5'-ABL and 3'-BCR deletions adjacent to the t(9;22) breakpoint (7%). Copy number gains were identified at 8p and 9p, and losses at 2q, 7q, 8q, 11q, 13q, and 16p. Two cases with variant translocation showed additional deletions on the 3rd chromosome with involvement in variant translocations, which were missed by MC. We defined 3 commonly deleted regions (CDRs) on 9q34 and 22q11.2: CDR1 on 9q34 spanned approximately 162 kb between 9q34.11 and 9q34.12; CDR2 on 22q11.23 spanned 138 kb; CDR3 on 22q11.23 encompassed 102 kb. When we compared treatment outcomes according to the combination of the presence of CAs by SNP-A and/or ACAs, the patients having both CAs and ACAs showed a higher risk of failure following imatinib therapy than those with either CAs/ACAs or none (p=0.015). Conclusion: The present study suggests that SNP-A analysis is a useful tool for detection of clonal aberrations in the CML genome, and could improve the prediction of prognosis in CML patients. In addition, our data suggest that SNP-A analysis is a useful tool to detect cryptic aberrations in CML genome, could improve the prediction of prognosis in CML patients and enables us to delineate CDRs on 9q34 and 22q11.2 which might be associated with CML leukemogenesis. Disclosures: No relevant conflicts of interest to declare.

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.

Single nucleotide polymorphism in PTEN-Long gene: A risk factor in chronic myeloid leukemia

Gene ◽  
2019 ◽  
Vol 694 ◽  
pp. 71-75 ◽  
Author(s):  
C. Ferri ◽  
N. Weich ◽  
L. Gutiérrez ◽  
C. De Brasi ◽  
M.R. Bengió ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Risk Factor ◽  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

No Prognostic Impact of the WT1 Gene Single Nucleotide Polymorphism rs16754 in Pediatric Acute Myeloid Leukemia

2010 ◽  
Vol 28 (28) ◽  
pp. e523-e526 ◽  
Author(s):  
Iris H.I.M. Hollink ◽  
Marry M. van den Heuvel-Eibrink ◽  
Martin Zimmermann ◽  
Brian V. Balgobind ◽  
Susan T.C.J.M. Arentsen-Peters ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Prognostic Impact ◽  
Wt1 Gene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Pediatric Acute Myeloid Leukemia ◽  
Gene Single Nucleotide Polymorphism ◽  
Acute Myeloid

scholarly journals ADHD and DIRAS Single Nucleotide Polymorphism as an Indicator of Prolonged Concussion Recovery

CommonHealth ◽  
2021 ◽  
Vol 2 (3) ◽  
pp. 94-101
Author(s):  
Taziah Kenney ◽  
Jane McDevitt
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Rare Allele ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Adhd Diagnosis ◽  
Hyperactivity Disorder ◽  
Recovery Times ◽  
Prolonged Recovery ◽  
Concussion Recovery ◽  
And Control

The purpose of this study was to determine the association between the presence of a single nucleotide polymorphism (SNP; rs1412005) within DIRAS2 (i.e., a gene associated with attention-deficit/hyperactivity disorder (ADHD) and prolonged recovery following a sport-related concussion. A case-control study design was implemented, where cases and controls were selected from a cohort of 117 deidentified concussed athletes. Eleven samples from this patient cohort self-reported ADHD diagnosis and were age and sex-matched to 22 participants with no self-reported ADHD diagnoses. The average recovery times were 21.50 + 13.96 days and 15.66 + 8.50 days for the case and control groups, respectively. The authors found that only 13.6% of the individuals without an ADHD diagnosis recovered in > 30 days (p = 0.044). Also, the authors found that 72.7% of the carriers of the T allele (i.e., minor allele) recovered in greater than 30 days (p = 0.213).  Researchers concluded that individuals with ADHD had a higher risk of prolonged concussion recovery lasting greater than 30 days. Also, carrying the rare allele was associated with prolonged recovery, which suggests this SNP could be a potential genetic marker for both prolonged concussion recovery and the presence of ADHD.

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. 

Sign in / Sign up

Export Citation Format

Share Document