scholarly journals Association between single nucleotide polymorphism of rs1937 in TFAM gene and longevity among the elderly Chinese population: based on the CLHLS study

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Qing Chen ◽  
Zhi-Hao Li ◽  
Wei-Qi Song ◽  
Yao Yao ◽  
Yu-Jie Zhang ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Logistic Regression ◽  
Saliva Sample ◽  
Sensitivity Analyses ◽  
Control Group ◽  
Binary Logistic Regression Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Potential Biomarker ◽  
Significant Difference

Abstract Background To investigate whether the mitochondrial transcription factor A (TFAM) rs1937 single nucleotide polymorphism (SNP) is associated with longevity. Methods We conducted a case-control study among Chinese long-lived individuals (≥90 years). Data were obtained on 3294 participants who were able to voluntarily provided a saliva sample during 2008–2009 from the Chinese Longitudinal Healthy Longevity Survey (CLHLS). In this study, 1387 young elderly (65–74 years) were allocated to the control group, and 1907 long-lived individuals were recruited as the case group. SNP rs1937 on TFAM were genotyped. Logistic regression models were applied to evaluate the association between rs1937 SNP and longevity. Results The genotype frequency of the SNP of rs1937 in the two groups had a significant difference (p = 0.003). Binary logistic regression analysis showed that compared to younger elderly, the long-lived individuals with “CC genotype” of rs1937 were more closely related to increased longevity than those with “GG genotype” (OR: 1.989, 95% CI: 1.160–3.411). The positive association between rs1937 SNP and longevity was robust in stratified analyses and sensitivity analyses. Conclusions We found the SNP of rs1937 may be a potential biomarker for longer human life span. Further studies are necessary to elucidate the biological mechanism of rs1937 on TFAM with promoting longevity.

scholarly journals The role of single-nucleotide polymorphism rs10824026 of the SYNPO2L gene in the development of atrial fibrillation in a study in the East-Siberian population

2019 ◽  
Vol 10 (4) ◽  
pp. 34-38
Author(s):  
Kseniia Yu. Shishkova ◽  
Svetlana Yu. Nikulina ◽  
Vladimir A. Shulman ◽  
Anna A. Chernova ◽  
Vladimir N. Maksimov ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Single Nucleotide Polymorphism ◽  
National Standard ◽  
World Health ◽  
Control Group ◽  
Genome Wide Association Studies ◽  
Siberian Population ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Significant Difference

Background. Atrial fibrillation (AF) is the most common type of heart rhythm disturbance, leading to the development of lifethreatening conditions, such as cardio embolism, heart failure, and even sudden cardiac death. In recent years, the genetic aspects of AF have been actively discussed. The largest number of genetic predictors of AF was identified after a full genome-wide association studies (GWAS). Given that so far no studies of the association of rs10824026 polymorphism of chromosome 10q22 with the development of AF have been conducted in the Russian population, we conducted this clinical study. Aim. Checking the associations of the development of AF with the single-nucleotide polymorphism rs10824026 of the SYNPO2L gene in the East-Siberian population. Materials and methods. The study design was formed in accordance with the National Standard of the Russian Federation Good Clinical Practice, GOST P 52379-2005. The study uses design - “case-control”. The main group of patients - patients with known cardiac arrhythmias by the type of AF (n=106, average age 57.0±9 years, men 49.4%, women 50.6%), the group was formed using the criteria of the World Health Organization and the European Society of cardiologists. The control group (n=105, average age 57.0±9 years, men - 50.0%, women - 50.0%) was selected by age and gender from the DNA bank of international studies MONICA (Multinational MONItoring of trends and determinants in cardiovascular disease) under a joint agreement with the Research Institute of Therapy and preventive medicine - Novosibirsk. DNA was isolated by phenol-chloroform extraction. Among other things, among the research methods, routine laboratory methods were used; instrumental data; and invasive tactics such as CAG. Results. As a result of clinical genetic testing, it was found that the frequency of G/G polymorphism of the SYNPO2L gene in patients with AF shows a statistically significant difference.

scholarly journals Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Serena Bucossi ◽  
Stefania Mariani ◽  
Mariacarla Ventriglia ◽  
Renato Polimanti ◽  
Massimo Gennarelli ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphism ◽  
Logistic Regression ◽  
Atp7b Gene ◽  
Regression Analyses ◽  
Susceptibility Loci ◽  
Nucleotide Polymorphism ◽  
Sporadic Alzheimer’S Disease ◽  
Single Nucleotide

Nonceruloplasmin-bound copper (“free”) is reported to be elevated in Alzheimer's disease (AD). In Wilson's disease (WD) Cu-ATPase 7B protein tightly controls free copper body levels. To explore whether the ATP7B gene harbours susceptibility loci for AD, we screened 180 AD chromosomes for sequence changes in exons 2, 5, 8, 10, 14, and 16, where most of the Mediterranean WD-causing mutations lie. No WD mutation, but sequence changes corresponding to c.1216 T>G Single-Nucleotide Polymorphism (SNP) and c.2495 A>G SNP were found. Thereafter, we genotyped 190 AD patients and 164 controls for these SNPs frequencies estimation. Logistic regression analyses revealed either a trend for the c.1216 SNP (P=.074) or a higher frequency for c.2495 SNP of the GG genotype in patients, increasing the probability of AD by 74% (P=.028). Presence of the GG genotype in ATP7B c.2495 could account for copper dysfunction in AD which has been shown to raise the probability of the disease.

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. 

Single-nucleotide Polymorphism in the CD14 Promoter and Periodontal Disease Expression in a Japanese Population

2003 ◽  
Vol 82 (8) ◽  
pp. 612-616 ◽  
Author(s):  
K. Yamazaki ◽  
K. Ueki-Maruyama ◽  
T. Oda ◽  
K. Tabeta ◽  
Y. Shimada ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Periodontal Disease ◽  
Japanese Population ◽  
Young Patients ◽  
Genotype Distribution ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Control Subjects ◽  
Significant Difference ◽  
And Gender

It has been reported that there is a relationship between a single-nucleotide polymorphism (SNP) in the promoter region of the CD14 gene at position -159 (C→T) and infectious diseases. The aim of the present study was to test the hypthesis that expression of this SNP correlates with periodontal disease in a Japanese population. The CD14 genotype was determined in 163 subjects with periodontitis and in 104 age- and gender-matched control subjects without periodontitis. The genotype distribution and allele frequency within the periodontitis patients were not significantly different from those of control subjects. There was, however, a significant difference in the genotype distribution between young patients (< 35 yrs) and older patients (≥ 35 yrs). These findings suggest that CD14 -159C/T polymorphism is not related to the development of periodontitis in a Japanese population, but that, within the periodontitis subjects, expression of the SNP may be related to early disease activity.

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.

BTNL2 gene polymorphism and sarcoid uveitis

2019 ◽  
pp. bjophthalmol-2018-312949 ◽  
Author(s):  
Mayeul Chaperon ◽  
Yves Pacheco ◽  
Delphine Maucort-Boulch ◽  
Jean Iwaz ◽  
Laurent Perard ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Gene Polymorphism ◽  
Nucleotide Polymorphism ◽  
Predisposing Factor ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Subgroup Ii ◽  
Significant Difference ◽  
Caucasian Women ◽  
Patient Subgroups

BackgroundUveitis is a frequent and early feature of sarcoidosis. As BTNL2 (butyrophilin-like 2) gene polymorphism was found linked with the susceptibility to sarcoidosis, we investigated whether a specific genotype of BTNL2 gene G16071A (or rs2076530) single-nucleotide polymorphism (SNP) would be associated with the risk of sarcoid uveitis in all patient subgroups.MethodsThe study compared the genotype frequencies of SNP G16071A of 135 patients with sarcoid uveitis (Sa+Uv+) with those of 196 patients with sarcoidosis without uveitis (Sa+Uv−), 81 patients with uveitis without sarcoidosis (Sa−Uv+), and 271 controls with no sarcoidosis nor uveitis (Sa−Uv−). Three hypothetical subgroups of patients with sarcoid uveitis (Sa+Uv+ cases) were considered: (1) subgroup I: patients aged <45 years of both sexes and all ethnic origins; (2) subgroup II: Caucasian women aged >45 years; and (3) subgroup III: all other patients.ResultsA statistically significant difference in genotype frequencies was found between the groups Sa+Uv− and Sa−Uv− (p=3.2×10−6) and between the groups Sa+Uv+ and Sa+Uv− (p=7.1×10−3). There was no difference between the three subgroups of Sa+Uv+ patients. There was a statistically significant difference in genotype frequencies between Sa+Uv− and Sa+Uv+ subgroup II (p=0.005) but no difference between Sa+Uv− and Sa+Uv+ subgroup I.ConclusionNo association was found between G16071A and the susceptibility to sarcoid uveitis. BTNL2 gene G16071A SNP seems to be a predisposing factor for sarcoidosis except in Caucasian postmenopausal women with sarcoid uveitis in whom the GG genotype prevails. These and future results will help in understanding differences between particular subgroups of patients with sarcoid uveitis.

scholarly journals Bovine cardiac troponin I gene (<i>TNNI3</i>) as a candidate gene for bovine dilated cardiomyopathy

2009 ◽  
Vol 52 (2) ◽  
pp. 113-123
Author(s):  
M. Owczarek-Lipska ◽  
G. Dolf ◽  
K. E. Guziewicz ◽  
T. Leeb ◽  
C. Schelling ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Dilated Cardiomyopathy ◽  
Candidate Gene ◽  
Expression Analysis ◽  
Cardiac Troponin ◽  
Troponin I ◽  
Troponin T ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Significant Difference

Abstract. The cardiac troponin complex, which is an important component of the contractile apparatus, is composed of the three subunits troponin I (TnI), troponin C (TnC) and troponin T (TnT). Troponin I is the inhibitory subunit and consists of three isoforms encoded by TNNI1, TNNI2 and TNNI3 genes, respectively. Due to the different types of cardiomyopathies caused by mutations in the TNNI3 gene and its fluorescence in situ hybridization (FISH) mapping on bovine chromosome 18q26, which was shown to be linked to the recessively inherited bovine dilated cardiomyopathy (BDCMP), bovine TNNI3 was considered as candidate gene for BDCMP. Real-time polymerase chain reaction (PCR) TNNI3 expression analysis resulted in a significant difference between BDCMP affected and unaffected animals when normalized to ACTB gene expression, but there was no significant difference in expression when normalized to GAPDH. Northen blotting experiment was in agreement with the expression analysis and did not reveal a significant difference between the group of BDCMP affected and unaffected animals. Sequencing of the bovine TNNI3 gene revealed a single nucleotide polymorphism in intron 6 (c.378+315G>A), but this single nucleotide polymorphism (SNP)was present regardless of the BDCMP status. In summary our data provide evidence to exclude the bovine TNNI3 gene as a candidate for BDCMP.

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.

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