Genetic Predisposition to Cervical Cancer and the Association With XRCC1 and TGFB1 Polymorphisms

2017 ◽  
Vol 27 (9) ◽  
pp. 1949-1956 ◽  
Author(s):  
Najla M. Al-Harbi ◽  
Sara S. Bin Judia ◽  
Krishna N. Mishra ◽  
Mohamed M. Shoukri ◽  
Ghazi A. Alsbeih
Keyword(s):  
Confidence Interval ◽  
Cancer Patients ◽  
Genetic Predisposition ◽  
Odds Ratio ◽  
Direct Sequencing ◽  
Trend Test ◽  
Nucleotide Polymorphisms ◽  
Control Subjects ◽  
Allele Dosage ◽  
Increased Risk

ObjectiveCervical carcinoma (CC), a multifactorial cancer, is assumed to have a host genetic predisposition component that modulates its susceptibility in various populations. We investigated the association between CC risk in Saudi women and 6 single-nucleotide polymorphisms (SNPs) in hypothesis-driven candidate genes.MethodsA total of 545 females were included, comprising 232 CC patients and 313 age-/sex-matched control subjects. Six SNPs (CDKN1A C31A, ATM G1853A, HDM2 T309G, TGFB1 T10C, XRCC1 G399A, and XRCC3 C241T) were genotyped by direct sequencing.ResultsOf the 6 SNPs studied, TGFB1 T10C (odds ratio, 0.74; 95% confidence interval, 0.57–0.94) and XRCC1 G399A (odds ratio, 1.45; 95% confidence interval, 1.11–1.90) displayed different frequencies in cancer patients and control subjects and showed statistically significant association in univariate (P = 0.017, P = 0.005, respectively) analysis. The Cochran-Armitage trend test had confirmed the results (P = 0.027 and P = 0.006, respectively), indicating an ordering in the effect of the risk alleles in CC patients. The 2 SNPs, TGFB1 T10C and XRCC1 G399A, showed also degrees of deviation from Hardy-Weinberg equilibrium in cancer patients (P = 0.001 and P = 0.083, respectively) but not in the control subjects. Furthermore, correction for multiple testing using multivariate logistic regression to assess the joint effect of all SNPs has sustained significant statistical association (P = 0.025 and P = 0.009, respectively).ConclusionsTGFB1 T10C and XRCC1 G399A SNPs were associated with CC risk in univariate and multivariate analysis and displayed allele-dosage effects and coselection in cancer patients. Patients harboring the majority allele TGFB1 T10 (Leu) or the variant allele XRCC1 399A (Gln) have approximately 1.5-fold increased risk to develop CC. Host SNPs genotyping may provide relevant biomarkers for CC risk assessment in personalized preventive medicine.

Severe Varicella Associated With Steroid Use

PEDIATRICS ◽  
1993 ◽  
Vol 92 (2) ◽  
pp. 223-228 ◽  
Author(s):  
Scott F. Dowell ◽  
Joseph S. Bresee
Keyword(s):  
Confidence Interval ◽  
Incubation Period ◽  
Odds Ratio ◽  
Low Dose ◽  
Systemic Corticosteroid ◽  
Steroid Use ◽  
Inhaled Steroids ◽  
Control Subjects ◽  
Short Course ◽  
Increased Risk

Objective. To evaluate whether corticosteroid use is associated with severe varicella. Design. The odds of corticosteroid exposure were compared among 35 children with severe varicella and 10 000 control subjects. Results. Five (26.3%) of 19 case patients without known immunosuppression had received steroids within 30 days prior to the onset of their rash compared with 20 of the 10 000 control subjects (0.2%), giving an odds ratio of 178 (95% confidence interval 59 to 541). If 16 case patients with leukemia or other known immunosuppressive conditions were included, the odds ratio was larger (odds ratio 420, 95% confidence interval 189 to 935). Of the 13 case patients whose dosage was recorded, 7 received less than the equivalent of 2 mg/kg per day of prednisone. The timing of the steroid use in those who had severe varicella clustered within the incubation period for the virus. Conclusions. Systemic corticosteroid use appears to increase substantially the risk of severe or fatal varicella. The timing of corticosteroid exposure, in addition to dose and duration, may be an important factor in determining vulnerability. Further studies are needed to determine whether short-course, low-dose, or inhaled steroids are associated with similarly increased risk. Physicians should be aware that varicella-susceptible patients receiving corticosteroids are at considerably increased risk for severe varicella and should consider how to counsel their patients.

scholarly journals TNFα–308G/A Polymorphism as a Risk Factor for HPV Associated Cervical Cancer in Indian Population

2007 ◽  
Vol 29 (3) ◽  
pp. 249-256
Author(s):  
Indu Kohaar ◽  
Nisha Thakur ◽  
Sudha Salhan ◽  
Swaraj Batra ◽  
Veena Singh ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Direct Sequencing ◽  
Hpv Infection ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Promoter Polymorphisms ◽  
Hpv 16 ◽  
Indian Women ◽  
Control Subjects ◽  
Increased Risk

Background: Investigation of the potential association of single nucleotide polymorphisms (SNPs) at –308 G/A and –238 G/A of Tumor necrosis factor α (TNFα) with susceptibility to HPV-16 associated cervical cancer in Indian women. Methods: The study included 165 histologically confirmed cases with 45 precancer and 120 cancer patients and an equal number (165) of healthy controls with normal cervical cytology. PCR-RFLP was employed to analyze TNFα promoter polymorphisms, which were confirmed by direct sequencing. Both patients and controls were screened for Human Papillomavirus (HPV) infection. Results: The frequency of –308 A allele in TNFα was significantly higher in cases compared with control subjects (21% in cases vs. 9% in controls; p < 0.01), with an odds ratio of 2.7 (95% CI = 1.41–5.15). Also, women carrying A allele for this locus presented 3 times increased susceptibility to HPV 16 infection as evident from carrier genotype distribution between HPV positive cases and control subjects (24% in HPV positive cases vs. 9% in controls; p < 0.01; OR = 3.1; 95% CI = 1.60–6.03). No such association was found for TNFα–238 (G/A) polymorphism with the risk of development of cervical cancer. Conclusion: It suggests that SNP at –308 (G/A) of TNFα promoter may represent an increased risk for HPV infection and development of cervical cancer in Indian women.

KNG1 Ile581Thr and susceptibility to venous thrombosis

Blood ◽  
2011 ◽  
Vol 117 (13) ◽  
pp. 3692-3694 ◽  
Author(s):  
Pierre-Emmanuel Morange ◽  
Tiphaine Oudot-Mellakh ◽  
William Cohen ◽  
Marine Germain ◽  
Noémie Saut ◽  
...  
Keyword(s):  
Risk Factor ◽  
Confidence Interval ◽  
Venous Thrombosis ◽  
Partial Thromboplastin Time ◽  
Genetic Risk ◽  
Odds Ratio ◽  
Activated Partial Thromboplastin Time ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk

Abstract Three single nucleotide polymorphisms (SNPs) were recently found to be associated with activated partial thromboplastin time (aPTT). Because shortened aPTT levels have been observed in patients experiencing venous thrombosis (VT), we investigated the effects of these 3 aPTT-associated SNPs, rs2731672, rs9898, and rs710446, on the risk of VT in a sample of 1110 healthy patients and 1542 patients with VT. Among the 3 tested SNPs, only rs710446 was associated with VT risk; the rs710446-C allele was associated with an increased risk of VT (odds ratio 1.196, 95% confidence interval 1.071-1.336, P = .0012). This association also was observed in an independent sample of 590 controls and 596 patients (odds ratio 1.171, 95% confidence interval 0.889-1.541, P = .059). We also confirmed that the rs710446-C allele was associated with decreased aPTT levels, making this nonsynonymous Ile581Thr variant a new genetic risk factor for VT.

Do Children Who Experience Laryngospasm Have an Increased Risk of Upper Respiratory Tract Infection?

1996 ◽  
Vol 85 (3) ◽  
pp. 475-480. ◽  
Author(s):  
Mark S. Schreiner ◽  
Irene O'Hara ◽  
Dorothea A. Markakis ◽  
George D. Politis
Keyword(s):  
Confidence Interval ◽  
Respiratory Infection ◽  
Odds Ratio ◽  
Signs And Symptoms ◽  
Control Group ◽  
Upper Respiratory Tract ◽  
Upper Respiratory Infection ◽  
Airway Surgery ◽  
Increased Risk ◽  
Upper Respiratory

Background Laryngospasm is the most frequently reported respiratory complication associated with upper respiratory infection and general anesthesia in retrospective studies, but prospective studies have failed to demonstrate any increase in risk. Methods A case-control study was performed to examine whether children with laryngospasm were more likely to have an upper respiratory infection on the day of surgery. The parents of all patients (N = 15,183) who were admitted through the day surgery unit were asked if their child had an active or recent (within 2 weeks of surgery) upper respiratory infection and were questioned about specific signs and symptoms to determine if the child met Tait and Knight's definition of an upper respiratory infection. Control subjects were randomly selected from patients whose surgery had occurred within 1 day of the laryngospasm event. Results Patients who developed laryngospasm (N = 123) were 2.05 times (95% confidence interval 1.21-3.45) more likely to have an active upper respiratory infection as defined by their parents than the 492 patients in the control group (P &lt; or = 0.01). The development of laryngospasm was not related to Tait and Knight's definition for an upper respiratory infection or to recent upper respiratory infection. Children with laryngospasm were more likely to be younger (odds ratio = 0.92, 95% confidence interval 0.87-0.99), to be scheduled for airway surgery (odds ratio = 2.08, 95% confidence interval 1.21-3.59), and to have their anesthesia supervised by a less experienced anesthesiologist (odds ratio = 1.69, 95% confidence interval 1.04-2.7) than children in the control group. Conclusion Laryngospasm was more likely to occur in children with an active upper respiratory infection, children who were younger, children who were undergoing airway surgery, and children whose anesthesia were supervised by less experienced anesthesiologists. Understanding the risk factors and the magnitude of the likely risk should help clinicians make the decision as to whether to anesthetize children with upper respiratory infection.

scholarly journals Validity of the LACE index for identifying frequent early readmissions after hospital discharge in children

2021 ◽  
Author(s):  
Thang S Han ◽  
David Fluck ◽  
Christopher H Fry
Keyword(s):  
At Risk ◽  
Confidence Interval ◽  
Hospital Discharge ◽  
Odds Ratio ◽  
Hospital Readmissions ◽  
Index Score ◽  
Children At Risk ◽  
Increased Risk ◽  
Scoring Tool ◽  
Event Rates

AbstractThe LACE index scoring tool has been designed to predict hospital readmissions in adults. We aimed to evaluate the ability of the LACE index to identify children at risk of frequent readmissions. We analysed data from alive-discharge episodes (1 April 2017 to 31 March 2019) for 6546 males and 5875 females from birth to 18 years. The LACE index predicted frequent all-cause readmissions within 28 days of hospital discharge with high accuracy: the area under the curve = 86.9% (95% confidence interval = 84.3–89.5%, p < 0.001). Two-graph receiver operating characteristic curve analysis revealed the LACE index cutoff to be 4.3, where sensitivity equals specificity, to predict frequent readmissions. Compared with those with a LACE index score = 0–4 (event rates, 0.3%), those with a score > 4 (event rates, 3.7%) were at increased risk of frequent readmissions: age- and sex-adjusted odds ratio = 12.4 (95% confidence interval = 8.0–19.2, p < 0.001) and death within 30 days of discharge: OR = 5.0 (95% CI = 1.5–16.7). The ORs for frequent readmissions were between 6 and 14 for children of different age categories (neonate, infant, young child and adolescent), except for patients in the child category (6–12 years) where odds ratio was 2.8.Conclusion: The LACE index can be used in healthcare services to identify children at risk of frequent readmissions. Focus should be directed at individuals with a LACE index score above 4 to help reduce risk of readmissions. What is Known:• The LACE index scoring tool has been widely used to predict hospital readmissions in adults. What is New:• Compared with children with a LACE index score of 0–4 (event rates, 0.3%), those with a score > 4 are at increased risk of frequent readmissions by 14-fold.• The cutoff of a LACE index of 4 may be a useful level to identify children at increased risk of frequent readmissions.

miR-146a and miR-196a-2 genes polymorphisms and its circulating levels in lung cancer patients

2019 ◽  
Vol 166 (4) ◽  
pp. 323-329 ◽  
Author(s):  
Randa H Mohamed ◽  
Heba F Pasha ◽  
Doaa M Gad ◽  
Mostafa M Toam
Keyword(s):  
Lung Cancer ◽  
Cancer Risk ◽  
Cancer Patients ◽  
Lung Cancer Risk ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Lung Cancer Patients ◽  
Increased Risk ◽  
Increase Risk ◽  
Circulating Levels

AbstractRecently, MicroRNAs polymorphisms and their serum expression have been linked to increase risk of various cancers. The aim of this study was to elucidate the association between single nucleotide polymorphisms of miR-146a and miR-196a-2 and their serum expression and lung cancer risk. One hundred and twenty lung cancer patients and 120 health controls were included in this study. Genotyping and expression for miR-146a and miR-196a-2 were performed using polymerase chain reaction (PCR)-restriction fragment length polymorphism and quantitative real-time PCR. Individuals carrying miR-146a CG and CC genotypes had significantly increased risk for lung cancer than those carrying miR-146a GG genotype. MiR-146a expression significantly decreased in miR-146a CG and CC genotypes carriers as compared with GG genotype carriers. MiR-196a-2 CT and TT genotypes were significantly associated with increased lung cancer while the highest expression of MiR-196a-2 was detected in miR-196a-2 CC genotype carriers. Serum miR-146a was significantly decreased in lung cancer patients while serum miR-196a-2 expression was significantly increased in lung cancer patients. In conclusion, miR-146a and miR-196a-2 genes polymorphisms and their circulating levels were associated with lung cancer risk in Egyptians and may be helpful in early detection of lung cancer.

Second-Generation Consequences of Small-for-Dates Birth

PEDIATRICS ◽  
1989 ◽  
Vol 84 (2) ◽  
pp. 343-347
Author(s):  
Mark A. Klebanoff ◽  
Olav Meirik ◽  
Heinz W. Berendes
Keyword(s):  
Confidence Interval ◽  
Birth Outcomes ◽  
Odds Ratio ◽  
Intrauterine Growth Retardation ◽  
Long Term Effects ◽  
Intrauterine Growth ◽  
Increased Risk ◽  
Reported Study ◽  
Increase In Risk

This is the first reported study of birth outcomes of a group of women whose own birth weights and gestational ages had been previously recorded. Births occurring from 1972 to 1983 among 1154 Swedish women, born from 1955 to 1965, were studied. Women who were themselves small for gestational age (SGA) at birth were at increased risk of giving birth to a SGA infant (odds ratio = 2.21, 95% confidence interval = 1.41, 3.48). Women who had been SGA had an even greater increase in risk of giving birth to a preterm infant (odds ratio = 2.96, 95% confidence interval = 1.47, 5.94). Women who were preterm at birth were not at increased risk of giving birth to either preterm (odds ratio = 0.65, 95% confidence interval = 0.15, 2.74) or SGA (odds ratio 1.21, 95% confidence interval = 0.62, 2.38) infants. It is concluded that the long-term effects of intrauterine growth retardation may extend to the next generation; women who had been SGA should be considered at increased risk to give birth to both growth-retarded and preterm infants.

scholarly journals Metabolic and lifestyle factors in relation to senile cataract: a Mendelian randomization study

2022 ◽  
Vol 12 (1) ◽  
Author(s):  
Shuai Yuan ◽  
Alicja Wolk ◽  
Susanna C. Larsson
Keyword(s):  
Standard Deviation ◽  
Odds Ratio ◽  
Mendelian Randomization ◽  
Coffee Consumption ◽  
Smoking Initiation ◽  
Lifestyle Factors ◽  
Senile Cataract ◽  
Nucleotide Polymorphisms ◽  
Standard Deviation Increase ◽  
Increased Risk

AbstractWe conducted a Mendelian randomization study to determine the associations of body mass index (BMI), type 2 diabetes (T2D), systolic blood pressure (SBP), coffee and alcohol consumption and smoking initiation with senile cataract. Independent single nucleotide polymorphisms associated with the metabolic and lifestyle factors at the p < 5 × 10–8 were selected as instrument variables. Summary-level data for senile cataract were obtained from the FinnGen consortium (20,157 cases and 154,905 non-cases) and UK Biobank study (6332 cases and 354,862 non-cases). Higher genetically predicted BMI and SBP and genetic predisposition to T2D and smoking initiation were associated with an increased risk of senile cataract. The combined odds ratios were 1.19 (95% confidence interval (CI) 1.09–1.29; p < 0.001) per one standard deviation increase in BMI (~ 4.8 kg/m2), 1.13 (95% CI 1.04–1.23; p = 0.004) per 10 mmHg increase in SBP, 1.06 (95% CI 1.03–1.09; p < 0.001) per one unit increase in log-transformed odds ratio of T2D, and 1.19 (95% CI 1.10–1.29; p < 0.001) per one standard deviation increase in prevalence of smoking initiation. Genetically predicted coffee consumption showed a suggestive association with senile cataract (odds ratio per 50% increase, 1.18, 95% CI 1.00–1.40; p = 0.050). This study suggests causal roles of obesity, T2D, SBP and smoking in senile cataract.

Siblings and Birth Order—Are They Important for the Occurrence of ADHD?

2018 ◽  
Vol 25 (1) ◽  
pp. 81-90 ◽  
Author(s):  
Charlotte Reimelt ◽  
Nicole Wolff ◽  
Heike Hölling ◽  
Sabine Mogwitz ◽  
Stefan Ehrlich ◽  
...  
Keyword(s):  
Confidence Interval ◽  
Birth Order ◽  
Odds Ratio ◽  
Epidemiological Data ◽  
Developmental Period ◽  
Order Number ◽  
Diagnostic Bias ◽  
German Health ◽  
Kiggs Study ◽  
Increased Risk

Objective: The associations of birth order, number of siblings, and ADHD was examined. Method: The analysis based on representative, epidemiological data from the German Health Interview and Examination Survey for Children and Adolescents (KiGGS) study ( N = 13,488). Results: An increased risk for ADHD in firstborn versus youngest born children (odds ratio [OR] = 1.31, 95% confidence interval [CI] [1.09, 1.58]) and also versus children with no sibling (OR = 1.31, 95% CI [1.03, 1.68]) was revealed, while number of siblings was not associated with ADHD. Results remained stable after controlling for confounders. Conclusion: Firstborn children may receive simultaneously less parental resources and more responsibilities if younger siblings are born. This happens during the vulnerable developmental period of ADHD. In addition, due to higher levels of insecurity, parents are assumed to focus more on potential physical or psychological abnormities in their firstborn children. This may result in a diagnostic bias in firstborn children.

Abstract 16584: Association of Lower Height and Higher LDL-c in a Statewide Schoolchild Cholesterol Screening Program

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Lee A Pyles ◽  
Christa Lilly ◽  
Eloise Elliott ◽  
William A Neal
Keyword(s):  
Short Stature ◽  
Odds Ratio ◽  
Screening Program ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Primordial Prevention ◽  
Lipid Panel ◽  
Increased Risk ◽  
Lower Height ◽  
Chi Square Analysis

Introduction: The Coronary Artery Risk Detection in Appalachian Communities (CARDIAC) Project has screened West Virginia 5th graders since 1998 to facilitate primordial prevention of coronary heart disease (CHD) in WV. LDL-c levels above 175 mg/dl in children suggest Familial Hyperlipidemia (FH) in the child’s family and a level above 160 mg/dl with history of CHD in relatives can also establish a diagnosis. Hypothesis: Based on previous adult literature, the association of lower height with higher LDL level observed in adults begins in childhood and is prominent in children with LDL in FH range. Methods: Fifth graders are screened yearly in WV schools with parental consent for Body Mass Index and lipid panel. Lipids were analyzed with respect to either short stature < 2 SD for height or comparing 1st (shortest) and 4th quartiles of the population. Statistical analysis for age- and gender-adjusted height percentiles was performed in SAS. Results: 59,386 children had lipid and height data. Mean LDL-c for 1st vs. 4th quartile of height was 94.08 mg/dl (95% Confidence Interval-CI 93.66-94.51) vs. 90.03 mg/dl (CI 89.65-90.42). First quartile of height students had average 4.05 mg/dl higher LDL-c (95% CI 3.48 -4.62 mg/dl). 4398 children had an LDL level above 130 g/dl, 632 above 160 mg/dl and 247 above 175 mg/dl. The Chi square analysis of short stature (height 130 g/dl was also significant (p=0.013) with increased odds of LDL-c above 130 g/dl compared to non-short stature (OR= 1.37, CL 1.07-1.75). Table 1 shows odds ratio for varying levels of elevated LDL-c for the first (shortest) vs. 4th (tallest) quartile of students. Conclusions: Shorter stature is associated with higher LDL-c level in WV 5th graders generally and in those children with increased risk for genetic dyslipidemia. The trend to increasing odds ratio in strata of higher LDL-c supports a recent report of association of single nucleotide polymorphisms selecting for lower genetic height and higher LDL-c.

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