scholarly journals Association of the -844G>A polymorphism in the catalase gene with the increased risk of essential hypertension in smokers

2016 ◽  
Vol 88 (9) ◽  
pp. 50-54 ◽  
Author(s):  
O Yu Bushueva ◽  
V P Ivanov ◽  
V N Ryzhaeva ◽  
I V Ponomarenko ◽  
M I Churnosov ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Essential Hypertension ◽  
Odds Ratio ◽  
Healthy Individuals ◽  
Chain Reaction ◽  
Predisposing Factor ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Cat Gene ◽  
Apparently Healthy

Aim. To investigate whether the functionally relevant -844G>A promotor polymorphism in the catalase (CAT) gene is associated with the development of essential hypertension (EH). Subjects and methods. The investigation enrolled 2,339 unrelated ethnic Russian people, including 1,269 EH patients and 770 apparently healthy individuals. Genotyping of CAT -844G>A (rs769214) polymorphism was performed using a TaqMan real-time polymerase chain reaction assay. Results. The -844A allele (odds ratio (OR)=1.31; 95% confidence interval (CI), 1.04 to 1.64; р=0.02) and the -844AA genotype (OR=1.41; 95% CI, 1.02 to 1.94; р=0.03) were found to be related to a higher risk of EH in the smokers. No association was found between this polymorphism and EH risk in the non-smokers. Conclusion. Smoking is a predisposing factor for development of EH in CAT -844AA genotype carriers.

scholarly journals Longest reported case of symptomatic COVID-19 reporting positive for over 230 days in an immunocompromised patient in the United States

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110400
Author(s):  
Bilal Chaudhry ◽  
Lidiya Didenko ◽  
Maaria Chaudhry ◽  
Andrew Malek ◽  
Kirill Alekseyev
Keyword(s):  
Risk Factors ◽  
Polymerase Chain Reaction ◽  
Immunocompromised Patient ◽  
The United States ◽  
Immunocompromised Patients ◽  
Chain Reaction ◽  
Viral Shedding ◽  
Time Period ◽  
Increased Risk ◽  
Polymerase Chain

Coronavirus 2019 (COVID-19) pneumonia was first noted in Wuhan, China. Since the start of the pandemic, there have been millions of cases diagnosed. The average time from onset of symptoms to testing negative SARS-CoV-2 via reverse transcription polymerase chain reaction is roughly 25 days. In patients who continually test positive for COVID-19, it is essential to determine precisely which risk factors contribute to the increase in viral shedding duration. We present a case about a 62-year-old man who has persistently tested positive for COVID-19 for more than 230 days. We followed his treatment course, in which he had been hospitalized multiple times since the onset of symptoms back in April 2020. We have determined that patients with immunosuppression, especially those taking corticosteroids, are at increased risk of prolonged viral shedding. It is essential to continually monitor these immunocompromised patients as they required a greater time period in order to have an appropriate immune response in which antibodies are created.

Prevalence, survival outcomes, and clinicopathologic factors associated with negative high risk human papillomavirus in surgical specimens of cervical cancer with pretreatment negative DNA genotype test

2019 ◽  
Vol 29 (1) ◽  
pp. 10-16
Author(s):  
Gun Oh Chong ◽  
Hyung Soo Han ◽  
Ji Young Park ◽  
Seon Duk Lee ◽  
Yoon Hee Lee ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Polymerase Chain Reaction ◽  
Human Papillomavirus ◽  
High Risk ◽  
Odds Ratio ◽  
Survival Outcomes ◽  
Chain Reaction ◽  
Genotype Test ◽  
Polymerase Chain ◽  
Papillomavirus Dna

ObjectiveThe aim of this study was to detect high risk human papillomavirus in cervical cancer with a pretreatment negative high risk human papillomavirus DNA genotype test and to evaluate clinicopathologic characteristics and survival outcomes according to high risk human papillomavirus status.MethodsWe investigated high risk human papillomavirus status in surgical specimens from 30 cases of cervical cancer using polymerase chain reaction. Polymerase chain reaction primers were set to detect the presence of the common L1 and E7 regions of human papillomavirus types 16, 18, 31, 33, 45, 52, and 58. We analyzed the following clinicopathologic parameters to evaluate their relationships with high risk human papillomavirus status: age, histology, stage, tumor size, invasion depth, lymphovascular invasion, and recurrent status.ResultsAmong 30 cases with a pretreatment negative DNA genotype test, high risk human papillomavirus was detected in 12 (40.0%), whereas 18 (60.0%) were negatives. Of 12 high risk human papillomavirus positive cases, 10 (33.3%) were positive for the L1 region, 6 (20.0%) of the 7 types were positive for the E7 region, and 4 (13.1%) were positive for both L1 and E7 regions. According to a multiple logistic regression model, tumor size (odds ratio 7.80; 95% confidence interval 1.476 to 41.216; P=0.0097) and stage (odds ratio 7.00; 95% confidence interval 1.293 to 37.910; P=0.0173) were associated with negative high risk human papillomavirus DNA status. Kaplan–Meier survival plots showed that negative high risk human papillomavirus status was associated with worse disease free survival in contrast with positive high risk human papillomavirus status (P=0.0392).ConclusionsNegative high risk human papillomavirus was found in 60% of cervical cancers with a pretreatment negative DNA genotype test. Moreover, the negative high risk human papillomavirus group was associated with worse survival outcome.

scholarly journals Association between Platelet-Specific Collagen Receptor Glycoprotein 6 Gene Variants, Selected Biomarkers, and Recurrent Pregnancy Loss in Korean Women

Genes ◽  
2020 ◽  
Vol 11 (8) ◽  
pp. 862
Author(s):  
Hui Jeong An ◽  
Eun Hee Ahn ◽  
Jung Oh Kim ◽  
Chang Soo Ryu ◽  
Han Sung Park ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Pregnancy Loss ◽  
Adjusted Odds Ratio ◽  
Recurrent Pregnancy Loss ◽  
Korean Women ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Polymerase Chain

This paper investigates whether glycoprotein 6 (GP6) gene polymorphisms are a risk factor for recurrent pregnancy loss (RPL) in Korean women. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism and real-time polymerase chain reaction amplification. We identified five polymorphisms in the GP6 gene: rs1654410 T>C, rs1671153 T>G, rs1654419 G>A, rs12610286 A>G, and rs1654431 G>A. GP6 rs1654410 CC was associated with decreased RPL risk (adjusted odds ratio = 0.292, 95% confidence interval = 0.105–0.815, p = 0.019), and recessive genotypes were also significantly associated with decreased RPL risk (adjusted odds ratio = 0.348, 95% confidence interval = 0.128−0.944, p = 0.038). GP6 rs1654419 GA was associated with decreased RPL risk (adjusted odds ratio = 0.607, 95% confidence interval = 0.375-0.982, p = 0.042), and dominant genotypes were significantly associated with decreased RPL risk (adjusted odds ratio = 0.563, 95% confidence interval = 0.358−0.885, p = 0.013). Altogether, the genotype frequencies of GP6 rs1654410 T>C and GP6 rs1654419 G>A were significantly different between RPL patients and control participants. Therefore, although GP6 polymorphisms may be useful as biomarkers of RPL, additional studies with heterogeneous cohorts are required to better understand the influence of GP6 and assess its performance as a biomarker.

scholarly journals ALLELIC POLYMORPHISMS OF DNA REPAIR GENES AND THEIR INFLUENCE ON THE FORMATION OF RESISTANCE TO THE DEVELOPMENT OF BRONCHOPULMONARY PATHOLOGY UNDER THE ACTION OF INDUSTRIAL AEROSOLS

2019 ◽  
Vol 72 (5) ◽  
pp. 784-789
Author(s):  
Tetyana A. Andrushchenko ◽  
Sergiy V. Goncharov ◽  
Victor E. Dosenko ◽  
Konstantin E. Ishhejkin
Keyword(s):  
Polymerase Chain Reaction ◽  
Dna Repair ◽  
Respiratory System ◽  
Preventive Measures ◽  
Dna Repair Genes ◽  
Chain Reaction ◽  
Asbestos Cement ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Repair Genes

Introduction: The frequency of alleles and genotypes of DNA repair genes in people working due to the influence of industrial aerosols (miners and workers of asbestos-cement plants (n = 215)) was studied. The aim of the work was to identify allelic polymorphisms affecting the formation of resistance or leading to an increased risk of developing bronchopulmonary pathology. Materials and methods: In 90 patients with bronchopulmonary pathology and 125 persons working under the same conditions but without respiratory system diseases, the polymerase chain reaction in real time was determined by the polymorphisms of DNA repair genes: XPD (rs13181, rs799793), ERCC1 (rs11615), XRCC1 ( rs25487) and XRCC3 (rs861539), ATM (rs664677), XRCC7 (rs7003908) and MLH1 (rs1799977). Results: In the course of this study the alleles and genotypes contributing to resistance to the development of respiratory system pathologies were determined: XRCC1•G/A (rs25487) (OR=0.57; 95% CI: 0.32-1.02; P≤0.040; χ²=4.14); MLH1•A (rs1799977) (OR=0.62; 95% CI: 0.40-0.96; P≤0.020; χ²=5.06); MLH1•A/A (rs1799977) (OR=0.43; 95% CI: 0.24-0.79; P≤0.003; χ²=8.73). Also, we established the alleles and genotypes associated with the risk of developing bronchopulmonary pathology: XPD•C/C (rs13181) (OR=2.20, 95% CI: 1.02-4.77; P≤0.020; χ²=4.85); XRCC1•A/A (rs25487) (OR=3.37; 95 % CI: 1.22-9.63; P≤0.008; χ²=6.94); ATM•T/T (rs664677) (OR=2.48; 95% CI: 1.16-5.31; Р≤0.010; χ²=6.61); MLH1•G (rs1799977) (OR=1.61; 95% CI: 1.04-2.49; P≤0.020; χ²=5.06); MLH1•A/G (rs1799977) (OR=2.32; 95% CI: 1.29-4.21; P≤0.002; χ²=9.01). Conclusions: The results indicate the influence of allelic polymorphisms of DNA repair genes on the formation of resistance to the development of bronchopulmonary pathology under the action of industrial aerosols and open up prospects for the development of modern preventive measures.

Angiotensin-Converting Enzyme Polymorphism and the Risk of Coronary Heart Disease in the Saudi Male Population

2000 ◽  
Vol 124 (4) ◽  
pp. 531-534 ◽  
Author(s):  
Nduna Dzimiri ◽  
Chona Basco ◽  
Azadali Moorji ◽  
Brian F. Meyer
Keyword(s):  
Coronary Heart Disease ◽  
Polymerase Chain Reaction ◽  
Heart Disease ◽  
Saudi Population ◽  
Converting Enzyme ◽  
Chain Reaction ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Genotype Ii ◽  
Saudi Male

Abstract Objective.—To determine the relevance of angiotensin I–converting enzyme (ACE) gene polymorphism for coronary artery disease (CAD) in the Saudi population. Methods and Results.—DNA of 84 male Saudi patients with established CAD, 36 male controls who underwent angiography, and 327 healthy Saudi male blood donors was amplified by polymerase chain reaction, using oligonucleotide primers flanking the insertion (I)/deletion (D) sites in the polymorphic region of intron 16 of the ACE gene. Polymerase chain reaction amplification resulted in 490-bp (II), 190-bp (DD), or 490- and 190-bp (ID) fragments. The genotype II distribution was 16.7% in the control group, 7.3% in the blood donor group, and 7.2% in the patients with CAD, and the distribution for DD was 58.3%, 47.1%, and 41.0%, respectively. Notably, 61.9% (P < .0001) of CAD patients presented with angina on admission, and 52.4% had diabetes mellitus. Conclusions.—The results show no increased risk of CAD in association with either the II or DD genotypes in the Saudi population. However, further investigation of genotype II as a predictor for atherosclerosis rather than increased risk of coronary heart disease may be indicated.

scholarly journals Evaluation of ‘white-spotted kidneys’ associated with leptospirosis by polymerase chain reaction based LipL32 gene in slaughtered cows

2012 ◽  
Vol 83 (1) ◽  
Author(s):  
Shahrzad Azizi ◽  
Elahe Tajbakhsh ◽  
Mohammad R. Hajimirzaei ◽  
Mohssen Gholami Varnamkhast ◽  
Hossein Sadeghian ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Mononuclear Cells ◽  
Plasma Cells ◽  
Zoonotic Disease ◽  
Health Concern ◽  
Chain Reaction ◽  
White Spots ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Pcr Targeting

The presence of white spots in the kidneys of cattle at slaughter (so-called white-spotted kidneys) can be an indication of infection with Leptospira, a spirochaete of public health concern because it causes zoonotic disease. In this study, 24 kidneys of 180 slaughtered cows (13.3%) showed focal to multifocal white spots at inspection. These kidneys, together with matching urine (n = 18) and blood (n = 24) samples, were examined by polymerase chain reaction (PCR) targeting the LipL32 gene. Leptospiral deoxyribonucleic acid (DNA) was detected in 19 (79.2%) out of 24 kidneys, as well as 7 (29.2%) blood and 10 (55.5%) urine samples of cows with white spots in their kidneys. Histopathological findings revealed multifocal infiltration of mononuclear cells, including lymphocytes and a few plasma cells in the renal interstitial tissues. In addition, 14 apparently normal kidneys and associated urine and blood samples were similarly examined by PCR but did not provide any positive results. In this study, high detection of leptospirosis in kidneys with interstitial nephritis suggests that Leptospira spp. are associated with white spotted kidneys. The present findings indicate that white spotted kidneys can be due to leptospirosis in this region in southwestern Iran, which indicates an increased risk of zoonotic disease. The data show that LipL32-based primers are useful for PCR-based diagnosis of leptospirosis.

Association ofCx43rs2071166 polymorphism with an increased risk for atrial septal defect

2017 ◽  
Vol 28 (3) ◽  
pp. 397-402 ◽  
Author(s):  
Ruoyi Gu ◽  
Wei Sheng ◽  
Xiaojing Ma ◽  
Guoying Huang
Keyword(s):  
Confidence Interval ◽  
Atrial Septal Defect ◽  
Odds Ratio ◽  
Septal Defect ◽  
Healthy Controls ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Polymerase Chain

AbstractAtrial septal defect is one of the most common CHD. The pathogenesis of atrial septal defect still remains unknown.Cx43is the most prevalent connexin in the mammalian heart during development. Its genetic variants can cause several CHD. The aim of our study was to investigate the association of genetic variations of theCx43with sporadic atrial septal defect. A total of 450 paediatric patients were recruited, including 150 cases with atrial septal defect and 300 healthy controls. The promoter region ofCx43was analysed by sequencing after polymerase chain reaction. All data were analysed by using the Statistic Package for Social Science 19.0 software. The frequency of the single nucleotide polymorphism rs2071166 was significantly higher in atrial septal defect cases than in healthy controls. The CC genotype at rs2071166 site inCx43was correlated with an increased risk for atrial septal defect (p<0.0001, odds ratio=3.891, 95% confidence interval 1.948–7.772) and the C allele was positively correlated with atrial septal defect (p=0.007, odds ratio=1.567, 95% confidence interval 1.129–2.175). In conclusion, our results confirmed that rs2071166 inCx43may be relevant with an increased atrial septal defect risk.

scholarly journals Circulating Neuroblastoma Cells Detected by Reverse Transcriptase Polymerase Chain Reaction for Tyrosine Hydroxylase mRNA Are an Independent Poor Prognostic Indicator in Stage 4 Neuroblastoma in Children Over 1 Year

2001 ◽  
Vol 19 (6) ◽  
pp. 1795-1801 ◽  
Author(s):  
Susan A. Burchill ◽  
Ian J. Lewis ◽  
Keith R. Abrams ◽  
Richard Riley ◽  
John Imeson ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Peripheral Blood ◽  
Neuroblastoma Cells ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Increased Risk ◽  
Stage 4 ◽  
Polymerase Chain ◽  
Disease Free ◽  
Th Mrna

PURPOSE: In this prospective, multicenter study, the independent prognostic power of neuroblastoma cells detected by reverse transcriptase polymerase chain reaction (RT-PCR) for tyrosine hydroxylase (TH) mRNA was evaluated. PATIENTS AND METHODS: The clinical significance of disease detected by RT-PCR in peripheral blood from children at diagnosis was compared with established prognostic markers [ie, age, lactate dehydrogenase (LDH), neuron-specific enolase, ferritin, and MYCN gene amplification] by multivariate analysis. The value of disease detection by RT-PCR during treatment and follow-up was also examined. RESULTS: TH mRNA was detected in peripheral blood from 33 of 49 (67%) children with stage 4 neuroblastoma > 1 year old at diagnosis and was a significant predictive factor for overall survival [hazard ratio (HR) = 2.40, 95% confidence interval (CI) 1.19 to 4.84, P = .014) and event-free survival (HR = 2.09, 95% CI 1.06 to 4.17, P = .034) in a multivariate analysis. Detection of disease in blood from clinically disease-free children was related to increased risk of death (HR 2.54, 95% CI 1.42 to 4.55, P = .0014). CONCLUSION: TH mRNA in peripheral blood of children with neuroblastoma is a poor prognostic indictor, reflecting the propensity for dissemination via the bloodstream. When combined with a serum LDH > 1500 IU/L, this is the most powerful poor prognostic model at diagnosis for children > 1 year old with stage 4 disease. The detection of TH mRNA in peripheral blood from clinically disease-free children is related to increased risk of relapse and death.

The role ofOnchocerca volvulusin the development of epilepsy in a rural area of Tanzania

Parasitology ◽  
2010 ◽  
Vol 137 (10) ◽  
pp. 1559-1568 ◽  
Author(s):  
REBEKKA KÖNIG ◽  
AMIR NASSRI ◽  
MICHAEL MEINDL ◽  
WILLIAM MATUJA ◽  
ASLAM R. KIDUNDA ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Cerebrospinal Fluid ◽  
Rural Area ◽  
Clinical Information ◽  
Onchocerca Volvulus ◽  
Antibody Index ◽  
Healthy Individuals ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Skin Snips

SUMMARYIntroduction.Several reports indicate high prevalences of both onchocerciasis and epilepsy in some regions of Africa. This raises the question of whether these diseases are associated. We therefore investigated people with epilepsy and/or onchocerciasis living in an area in Tanzania endemic forOnchocerca volvulus(O. volvulus).Methods.We collected clinical information, skin snips, and blood from 300 individuals, and cerebrospinal fluid (CSF) from 197. Participants were allocated to 4 groups consisting of people with epilepsy and onchocerciasis (n=135), those with either epilepsy (n=61) or onchocerciasis only (n=35), and healthy individuals (n=69). Samples were evaluated for microfilaria, IgG4antibodies againstO. volvulus,O. volvulusantibody index (CSF/serum), and CSF routine parameters. Polymerase chain reaction (PCR) was performed on skin snips and CSF.Results.No difference was found in microfilarial density between participants with and without epilepsy (P=0·498). The antibody index was raised in 2 participants. CSF PCR was negative in all samples tested.Discussion.Our results do not give evidence of a relationship betweenO. volvulusand epilepsy. Despite the fact that 2 participants had raised antibody index, the existence of cerebral onchocerciasis caused by migration of microfilariae into the CSF appears unlikely. However, to date unexplored reactions to the infestation withO. volvuluscausing epilepsy cannot be excluded.

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