Application of the genetic risk model for the analysis of predisposition to nonlacunar ischemic stroke

2019 ◽  
Vol 16 (5) ◽  
pp. 369-378
Author(s):  
Vitaly Korchagin ◽  
Konstantin Mironov ◽  
Alexander Platonov ◽  
Olga Dribnokhodova ◽  
Elina Akselrod ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Genetic Risk ◽  
Operating Characteristic ◽  
Risk Model ◽  
Characteristic Curve ◽  
Predictive Ability ◽  
Classification Model ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Satisfactory Performance

Aim: The purpose of our study was to analyze the predictive ability of the multiplicative model of genetic risk of nonlacunar ischemic stroke (IS) for independent samples from Russia. Patients & methods: A total of 181 patients and 360 healthy controls were included in this study. The discriminative accuracy of model was evaluated by the area under the receiver operating characteristic curve (AUC). Results: Classification model based on 15 single-nucleotide polymorphisms (SNPs), which are associated with a cardioembolic subtype of IS, had an AUC of 0.62 in patients with corresponding subtypes and an AUC of 0.58 for all patients. Conclusion: Risk calculation approach based on IS-associated SNPs had satisfactory performance in predicting the predisposition to the disease.

The breast cancer genetic risk model based on eight single nucleotide polymorphisms

The Breast ◽  
2019 ◽  
Vol 44 ◽  
pp. S137
Author(s):  
Z. Dankova ◽  
P. Zubor ◽  
M. Grendar ◽  
M. Kalman ◽  
K. Zelinova ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Risk ◽  
Risk Model ◽  
Nucleotide Polymorphisms ◽  
Cancer Genetic ◽  
Single Nucleotide ◽  
Model Based

scholarly journals MicroRNAs-1299, -126-3p and -30e-3p as Potential Diagnostic Biomarkers for Prediabetes

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 949
Author(s):  
Cecil J. Weale ◽  
Don M. Matshazi ◽  
Saarah F. G. Davids ◽  
Shanel Raghubeer ◽  
Rajiv T. Erasmus ◽  
...  
Keyword(s):  
Receiver Operating Characteristic ◽  
Operating Characteristic ◽  
Characteristic Curve ◽  
Predictive Ability ◽  
Roc Curves ◽  
Tolerance Test ◽  
Cross Sectional Study ◽  
Oral Glucose ◽  
Cross Sectional ◽  
Receiver Operating

This cross-sectional study investigated the association of miR-1299, -126-3p and -30e-3p with and their diagnostic capability for dysglycaemia in 1273 (men, n = 345) South Africans, aged >20 years. Glycaemic status was assessed by oral glucose tolerance test (OGTT). Whole blood microRNA (miRNA) expressions were assessed using TaqMan-based reverse transcription quantitative-PCR (RT-qPCR). Receiver operating characteristic (ROC) curves assessed the ability of each miRNA to discriminate dysglycaemia, while multivariable logistic regression analyses linked expression with dysglycaemia. In all, 207 (16.2%) and 94 (7.4%) participants had prediabetes and type 2 diabetes mellitus (T2DM), respectively. All three miRNAs were significantly highly expressed in individuals with prediabetes compared to normotolerant patients, p < 0.001. miR-30e-3p and miR-126-3p were also significantly more expressed in T2DM versus normotolerant patients, p < 0.001. In multivariable logistic regressions, the three miRNAs were consistently and continuously associated with prediabetes, while only miR-126-3p was associated with T2DM. The ROC analysis indicated all three miRNAs had a significant overall predictive ability to diagnose prediabetes, diabetes and the combination of both (dysglycaemia), with the area under the receiver operating characteristic curve (AUC) being significantly higher for miR-126-3p in prediabetes. For prediabetes diagnosis, miR-126-3p (AUC = 0.760) outperformed HbA1c (AUC = 0.695), p = 0.042. These results suggest that miR-1299, -126-3p and -30e-3p are associated with prediabetes, and measuring miR-126-3p could potentially contribute to diabetes risk screening strategies.

scholarly journals Evaluation of factors that predict the success rate of trial of labor after the cesarean section

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yang Mi ◽  
Pengfei Qu ◽  
Na Guo ◽  
Ruimiao Bai ◽  
Jiayi Gao ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Cesarean Section ◽  
Receiver Operating Characteristic Curve ◽  
Success Rate ◽  
Operating Characteristic ◽  
Characteristic Curve ◽  
Predictive Ability ◽  
Training Set ◽  
History Of ◽  
Operating Characteristic Curve

Abstract Background For most women who have had a previous cesarean section, vaginal birth after cesarean section (VBAC) is a reasonable and safe choice, but which will increase the risk of adverse outcomes such as uterine rupture. In order to reduce the risk, we evaluated the factors that may affect VBAC and and established a model for predicting the success rate of trial of the labor after cesarean section (TOLAC). Methods All patients who gave birth at Northwest Women’s and Children’s Hospital from January 2016 to December 2018, had a history of cesarean section and voluntarily chose the TOLAC were recruited. Among them, 80% of the population was randomly assigned to the training set, while the remaining 20% were assigned to the external validation set. In the training set, univariate and multivariate logistic regression models were used to identify indicators related to successful TOLAC. A nomogram was constructed based on the results of multiple logistic regression analysis, and the selected variables included in the nomogram were used to predict the probability of successfully obtaining TOLAC. The area under the receiver operating characteristic curve was used to judge the predictive ability of the model. Results A total of 778 pregnant women were included in this study. Among them, 595 (76.48%) successfully underwent TOLAC, whereas 183 (23.52%) failed and switched to cesarean section. In multi-factor logistic regression, parity = 1, pre-pregnancy BMI < 24 kg/m2, cervical score ≥ 5, a history of previous vaginal delivery and neonatal birthweight < 3300 g were associated with the success of TOLAC. The area under the receiver operating characteristic curve in the prediction and validation models was 0.815 (95% CI: 0.762–0.854) and 0.730 (95% CI: 0.652–0.808), respectively, indicating that the nomogram prediction model had medium discriminative power. Conclusion The TOLAC was useful to reducing the cesarean section rate. Being primiparous, not overweight or obese, having a cervical score ≥ 5, a history of previous vaginal delivery or neonatal birthweight < 3300 g were protective indicators. In this study, the validated model had an approving predictive ability.

scholarly journals A microRNA panel compared to environmental and polygenic scores for colorectal cancer risk prediction

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Janhavi R. Raut ◽  
Ben Schöttker ◽  
Bernd Holleczek ◽  
Feng Guo ◽  
Megha Bhardwaj ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Risk Prediction ◽  
Risk Score ◽  
Characteristic Curve ◽  
Predictive Ability ◽  
Population Based ◽  
Polygenic Risk Score ◽  
Nucleotide Polymorphisms ◽  
Polygenic Scores

AbstractCirculating microRNAs (miRNAs) could improve colorectal cancer (CRC) risk prediction. Here, we derive a blood-based miRNA panel and evaluate its ability to predict CRC occurrence in a population-based cohort of adults aged 50–75 years. Forty-one miRNAs are preselected from independent studies and measured by quantitative-real-time-polymerase-chain-reaction in serum collected at baseline of 198 participants who develop CRC during 14 years of follow-up and 178 randomly selected controls. A 7-miRNA score is derived by logistic regression. Its predictive ability, quantified by the optimism-corrected area-under-the-receiver-operating-characteristic-curve (AUC) using .632+ bootstrap is 0.794. Predictive ability is compared to that of an environmental risk score (ERS) based on known risk factors and a polygenic risk score (PRS) based on 140 previously identified single-nucleotide-polymorphisms. In participants with all scores available, optimism-corrected-AUC is 0.802 for the 7-miRNA score, while AUC (95% CI) is 0.557 (0.498–0.616) for the ERS and 0.622 (0.564–0.681) for the PRS.

Predictors of thermal increase in magnetic resonance–guided focused ultrasound treatment for essential tremor: histogram analysis of skull density ratio values for 1024 elements

2021 ◽  
pp. 1-6
Author(s):  
Ken Iijima ◽  
Hajime Yokota ◽  
Toshio Yamaguchi ◽  
Masayuki Nakano ◽  
Takahiro Ouchi ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Operating Characteristic ◽  
Focused Ultrasound ◽  
Characteristic Curve ◽  
Density Ratio ◽  
Predictive Ability ◽  
Curve Analysis ◽  
Regression Analyses ◽  
Multivariate Logistic Regression ◽  
Operating Characteristic Curve

OBJECTIVE Sufficient thermal increase capable of generating thermocoagulation is indispensable for an effective clinical outcome in patients undergoing magnetic resonance–guided focused ultrasound (MRgFUS). The skull density ratio (SDR) is one of the most dominant predictors of thermal increase prior to treatment. However, users currently rely only on the average SDR value (SDRmean) as a screening criterion, although some patients with low SDRmean values can achieve sufficient thermal increase. The present study aimed to examine the numerical distribution of SDR values across 1024 elements to identify more precise predictors of thermal increase during MRgFUS. METHODS The authors retrospectively analyzed the correlations between the skull parameters and the maximum temperature achieved during unilateral ventral intermediate nucleus thalamotomy with MRgFUS in a cohort of 55 patients. In addition, the numerical distribution of SDR values was quantified across 1024 elements by using the skewness, kurtosis, entropy, and uniformity of the SDR histogram. Next, the authors evaluated the correlation between the aforementioned indices and a peak temperature > 55°C by using univariate and multivariate logistic regression analyses. Receiver operating characteristic curve analysis was performed to compare the predictive ability of the indices. The diagnostic performance of significant factors was also assessed. RESULTS The SDR skewness (SDRskewness) was identified as a significant predictor of thermal increase in the univariate and multivariate logistic regression analyses (p < 0.001, p = 0.013). Moreover, the receiver operating characteristic curve analysis indicated that the SDRskewness exhibited a better predictive ability than the SDRmean, with area under the curve values of 0.847 and 0.784, respectively. CONCLUSIONS The SDRskewness is a more accurate predictor of thermal increase than the conventional SDRmean. The authors suggest setting the SDRskewness cutoff value to 0.68. SDRskewness may allow for the inclusion of treatable patients with essential tremor who would have been screened out based on the SDRmean exclusion criterion.

Causal associations of obesity with chronic kidney disease and arterial stiffness: a Mendelian randomization study

2021 ◽  
Author(s):  
Chaojie Ye ◽  
Lijie Kong ◽  
Zhiyun Zhao ◽  
Mian Li ◽  
Shuangyuan Wang ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Standard Deviation ◽  
Kidney Disease ◽  
Single Nucleotide Polymorphisms ◽  
Arterial Stiffness ◽  
Genetic Risk ◽  
Mendelian Randomization ◽  
Genetic Risk Score ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Abstract Purpose Observational studies have associated obesity with chronic kidney disease (CKD) and arterial stiffness, but the causality remains unclear. We aimed to investigate the causality of obesity with CKD and arterial stiffness using Mendelian randomization (MR) analysis. Methods We genotyped 14 body mass index (BMI)-associated variants validated in East Asians in 11384 Chinese adults. A genetic risk score based on the 14 variants and the 14 individual single nucleotide polymorphisms were respectively used as instrumental variables (IVs). CKD was defined as estimated glomerular filtration rate &lt;60 mL/min/1.73 m 2. Arterial stiffness was defined as brachial-ankle pulse wave velocity &gt;1550 cm/s. Results Using the genetic risk score as the IV, we demonstrated causal relations of each 1-standard deviation increment in BMI with CKD (odds ratio [OR]: 2.36; 95% confidence interval [CI]: 1.11-5.00) and arterial stiffness (OR: 1.71; 95% CI: 1.22-2.39). Using the 14 single nucleotide polymorphisms individually as IVs, each 1-standard deviation increment in BMI casually associated with CKD (OR: 2.58; 95% CI: 1.39-4.79) and arterial stiffness (OR: 1.87; 95% CI: 1.24-2.81) in the inverse-variance weighted analysis, and MR-Egger regression revealed no evidence of horizontal pleiotropy (Both P for intercept≥0.34). The causality between obesity and CKD was validated in two-sample MR analysis among Europeans (681275 of Genetic Investigation of ANthropometric Traits and 133413 of CKD Genetics). Conclusions This study provided novel insights into causality of obesity with CKD and arterial stiffness, highlighting the importance of weight management for primary prevention and control of subclinical vascular diseases.

scholarly journals Interaction between COX-1 and COX-2 increases susceptibility to ischemic stroke in a Chinese population

2019 ◽  
Author(s):  
Lei Zhao ◽  
Jinghuan Fang ◽  
Muke Zhou ◽  
Jie Zhou ◽  
Lihua Yu ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Gene Interaction ◽  
Additive Effect ◽  
Large Artery ◽  
Nucleotide Polymorphisms ◽  
Vessel Occlusion ◽  
Single Nucleotide ◽  
Ischemic Stroke Risk ◽  
Cox 2 ◽  
Cox 1

Abstract Background Mutations of cyclooxygenase gene (COX gene) may increase the susceptibility of ischemic stroke. We investigated five variants (rs5788, rs1330344, rs3842788, rs20417, and rs689466) of two COX genes to explain the association between these polymorphisms and ischemic stroke risk determine whether gene–gene interaction between these genes increase the susceptibility of ischemic stroke or its subtypes. Methods A total of 1981 study subjects (1078 cases and 903 control subjects) were recruited. The interaction of multiple factors was investigated using Multifactor Dimensionality Reduction and additive effect of single nucleotide polymorphisms on ischemic stroke or its subtypes were analyzed by multiple factor logistic regression. Results At COX-1(rs1330344), AA genotype carriers had a lower susceptibility of ischemic stroke (OR=0.657, 95%CI= 0.437-0.988, P = 0.044), and A allele carriers had a lower susceptibility of ischemic stroke (OR=0.812, 95%CI= 0.657-0.978, P = 0.029). At COX-1(rs3842788), AA genotype carriers had a higher susceptibility of ischemic stroke (OR =5.203, 95% CI=1.519-5.159, P =0.016). At COX-2 (rs689466), AA genotype carriers had a higher susceptibility of large-artery atherosclerosis (OR =1.404, 95% CI=1.019-1.934, P =0.038). COX-1(rs1330344, rs3842788) and COX-2 rs689466 interacted in SVO, but had no additive effect with ischemic stroke or its subtypes. Conclusions At rs1330344, AA genotype may reduce the susceptibility of ischemic stroke. At rs3842788, AA genotype may increase the susceptibility of ischemic stroke. At rs689466, AA genotype may increase the susceptibility of large-artery atherosclerosis (LAA). COX-1(rs1330344, rs3842788) and COX-2 rs689466 interacted in small vessel occlusion (SVO), but had no additive effect with ischemic stroke or its subtypes.

scholarly journals Functional Inflammatory Genotypes in Ischemic Stroke: Could We Use Them to Predict Age of Onset and Long-Term Outcome?

2011 ◽  
Vol 2011 ◽  
pp. 1-7 ◽  
Author(s):  
Stella Marousi ◽  
Anna Antonacopoulou ◽  
Haralambos Kalofonos ◽  
Panagiotis Papathanasopoulos ◽  
Marina Karakantza ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Cox Regression ◽  
Age Of Onset ◽  
Adverse Outcome ◽  
Nucleotide Polymorphisms ◽  
Term Outcome ◽  
Single Nucleotide ◽  
Long Term Outcome ◽  
Tnf Α

Functional single-nucleotide polymorphisms (SNPs) of inflammatory cytokines have been previously related to the occurrence of an ischemic stroke (IS). We investigated whether five functional SNPs (i.e., TNF-α-308G>A, IL6-174G>C, IL12B 1188A>C, IL4-589C>T, and IL10-1082G>A) might be associated with the age of onset and 6-month outcome of an acute IS. A probe-free real-time PCR methodology was used to genotype 145 consecutively admitted cases with a first-ever IS. Simple Kaplan-Mayer and adjusted Cox regression analyses showed no association between inflammatory genotypes and the age of IS onset. IL6-174G>C, IL12B 1188A>C, IL4-589C>T, and IL10-1082G>A were not found to significantly contribute to the long-term outcome of the disease. However, carriage of the TNF-α-308 GG genotype was significantly associated with reduced odds for an adverse outcome. Larger studies are needed to confirm our results.

scholarly journals Accuracy and adequacy of waist circumference cut-off points currently recommended in Brazilian adults

2013 ◽  
Vol 17 (4) ◽  
pp. 861-869 ◽  
Author(s):  
Carolina Avila Vianna ◽  
Rogério da Silva Linhares ◽  
Renata Moraes Bielemann ◽  
Eduardo Coelho Machado ◽  
David Alejandro González-Chica ◽  
...  
Keyword(s):  
Cardiovascular Risk ◽  
Waist Circumference ◽  
Receiver Operating Characteristic ◽  
Sensitivity And Specificity ◽  
Operating Characteristic ◽  
Characteristic Curve ◽  
Predictive Ability ◽  
Youden Index ◽  
Southern Brazil ◽  
Receiver Operating

AbstractObjectiveTo evaluate the adequacy and accuracy of cut-off values currently recommended by the WHO for assessment of cardiovascular risk in southern Brazil.DesignPopulation-based study aimed at determining the predictive ability of waist circumference for cardiovascular risk based on the use of previous medical diagnosis for hypertension, diabetes mellitus and/or dyslipidaemia. Descriptive analysis was used for the adequacy of current cut-off values of waist circumference, receiver operating characteristic curves were constructed and the most accurate criteria according to the Youden index and points of optimal sensitivity and specificity were identified.SettingPelotas, southern Brazil.SubjectsIndividuals (n2112) aged ≥20 years living in the city were selected by multistage sampling, since these individuals did not report the presence of previous myocardial infarction, angina pectoris or stroke.ResultsThe cut-off values currently recommended by WHO were more appropriate in men than women, with overestimation of cardiovascular risk in women. The area under the receiver operating characteristic curve showed moderate predictive ability of waist circumference in men (0·74, 95 % CI 0·71, 0·76) and women (0·75, 95 % CI 0·73, 0·77). The method of optimal sensitivity and specificity showed better performance in assessing the accuracy, identifying the values of 95 cm in men and 87 cm in women as the best cut-off values of waist circumference to assess cardiovascular risk.ConclusionsThe cut-off values currently recommended for waist circumference are not suitable for women. Longitudinal studies should be conducted to evaluate the consistency of the findings.

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