scholarly journals Association ofNEFLGene Polymorphisms with Wilms’ Tumor Susceptibility in Chinese Children

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Wei Jia ◽  
Jinhong Zhu ◽  
Wen Fu ◽  
Shibo Zhu ◽  
Fuming Deng ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Chinese Population ◽  
Renal Tumor ◽  
Wilms Tumor ◽  
Statistical Significance ◽  
Renal Tissue ◽  
Neurofilament Light ◽  
Tumor Susceptibility ◽  
Variant Genotype ◽  
Single Locus Analysis

Wilms’ tumor is renal tumor of childhood, characterized by the appearance of embryonic renal tissue and other kidney malformations. The genetic etiology of sporadic Wilms’ tumor remains largely unknown. Neurofilament light (NEFL) is a tumor suppressor. We evaluated the association between threeNEFLgene polymorphisms (rs11994014 G>A, rs2979704 T>C and rs1059111 A>T) and Wilms’ tumor susceptibility in a Chinese population consisting of 145 cases and 531 controls. In the single locus analysis, rs2979704 CC variant genotype was associated with a decreased risk of Wilms’ tumor [CC vs. TT: adjusted odds ratio (OR)=0.48, 95% confidence interval (CI)=0.24-0.94; CC vs. TT+CT: adjusted OR=0.51, 95% CI=0.27-0.97]. We also observed that carriers of the three protective genotypes had significantly decreased risk of Wilms’ tumor when compared to those with 0-2 protective genotypes (adjusted OR=0.49, 95% CI=0.25-0.95). The association between rs11994014 G>A or rs1059111 A>T polymorphisms and Wilms’ tumor susceptibility did not reach statistical significance. No significant association was detected in the stratified analyses. Our findings suggested that theNEFLrs2979704 T>C polymorphism may be associated with Wilms’ tumor susceptibility in the Chinese population.

Polymorphisms in the PRTOR gene in relation to gastric adenocarcinoma susceptibility in an Eastern Chinese population.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e15552-e15552
Author(s):  
Meng-Yun Wang ◽  
Ming Jia ◽  
Jing He ◽  
Qing-Yi Wei
Keyword(s):  
Gastric Cancer ◽  
Odds Ratio ◽  
Chinese Population ◽  
Adjusted Odds Ratio ◽  
Mrna Level ◽  
Nucleotide Polymorphisms ◽  
Gastric Cancer Risk ◽  
Single Nucleotide ◽  
Variant Genotype ◽  
Never Smokers

e15552 Background: RPTOR is an essential scaffold for MTOR complex which is necessary for the MTOR-catalyzed phosphorylation. Methods: In this study of 1,100 gastric cancer (GCa) cases and 1,137 matched cancer-free controls, we investigated associations between eight potentially functional single nucleotide polymorphisms (SNPs) (rs3751934 C > A, rs1062935 T > C, rs12602885 G > A, rs1468032 T > A, rs1468033 A > G, rs2271610 C > G, rs2271612 C > T, and rs2878052 G > A) in RPTOR and gastric cancer risk in an Eastern Chinese Population. Results: In logistic regression analysis, a significantly increased GCa risk was associated with the rs1468032 AA variant genotype (adjusted odds ratio [OR] = 1.32, 95% confidence interval [CI] = 1.09-1.60) under a dominant model, which remained significant after correction by the false-positive reporting probability. This risk was more evident in subgroups of younger subjects, females, never smokers, never drinkers, cancers of non-cardia and stage of Ⅲ+Ⅳ. We then performed SNP-mRNA expression correlation analysis in GTEx database as well as using real-time PCR in adjacent noncancerous tissues. We found that the AA variant genotype was associated with non-significantly decreased expression of RPTOR mRNA level. Conclusions: Our results suggest that the RPTOR rs1468032 A variant may be markers for GCa susceptibility. Larger, independent studies are warranted to validate our findings.

scholarly journals PARP1 rs1136410 Val762Ala contributes to an increased risk of overall cancer in the East Asian population: a meta-analysis

2021 ◽  
Vol 49 (3) ◽  
pp. 030006052199295
Author(s):  
Yijuan Xin ◽  
Liu Yang ◽  
Mingquan Su ◽  
Xiaoli Cheng ◽  
Lin Zhu ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Odds Ratio ◽  
Chinese Population ◽  
Meta Analysis ◽  
Asian Population ◽  
Cancer Type ◽  
East Asians ◽  
Asian Populations ◽  
Increased Risk ◽  
Meta Analyses

Objectives To investigate the association between poly(ADP-ribose) polymerase 1 ( PARP1) rs1136410 Val762Ala and cancer risk in Asian populations, as published findings remain controversial. Methods The PubMed and EMBASE databases were searched, and references of identified studies and reviews were screened, to find relevant studies. Meta-analyses were performed to evaluate the association between PARP1 rs1136410 Val762Ala and cancer risk, reported as odds ratio (OR) and 95% confidence interval (CI). Results A total of 24 studies with 8 926 cases and 15 295 controls were included. Overall, a significant association was found between PARP1 rs1136410 Val762Ala and cancer risk in East Asians (homozygous: OR 1.19, 95% CI 1.06, 1.35; heterozygous: OR 1.10, 95% CI 1.04, 1.17; recessive: OR 1.13, 95% CI 1.02, 1.25; dominant: OR 1.13, 95% CI 1.06, 1.19; and allele comparison: OR 1.09, 95% CI 1.03, 1.15). Stratification analyses by race and cancer type revealed similar results for gastric cancer among the Chinese population. Conclusion The findings suggest that PARP1 rs1136410 Val762Ala may be significantly associated with an increased cancer risk in Asians, particularly the Chinese population.

scholarly journals The value of Wilms tumor susceptibility gene 1 in cytologic preparations as a marker for malignant mesothelioma

Cancer ◽  
2002 ◽  
Vol 96 (2) ◽  
pp. 105-109 ◽  
Author(s):  
Jonathan L. Hecht ◽  
Benjamin H. Lee ◽  
Jack L. Pinkus ◽  
Geraldine S. Pinkus
Keyword(s):  
Malignant Mesothelioma ◽  
Wilms Tumor ◽  
Susceptibility Gene ◽  
Tumor Susceptibility ◽  
Tumor Susceptibility Gene

Association of β-defensin 1 gene Polymorphism and dental caries susceptibility in Tamil Ethnicity

2021 ◽  
pp. 4731-4735
Author(s):  
Harini Venkata Subbiah ◽  
Usha Subbiah ◽  
Athira Ajith
Keyword(s):  
Dental Caries ◽  
Odds Ratio ◽  
Regulatory Elements ◽  
Microbial Colonization ◽  
Nucleotide Polymorphisms ◽  
First Line ◽  
Single Nucleotide ◽  
Variant Genotype ◽  
Dental Caries Susceptibility ◽  
Genetic And Environmental Factors

Dental caries is a multifactorial disease that affects a large proportion of the population with both genetic and environmental factors contributing to the disease. Even in healthy oral environmental conditions, some individuals are susceptible to dental caries due to potential genetic contribution. Antimicrobial peptides are expressed in oral cavity and play an important role against microbial colonization and form an important first line defense against cariogenic bacteria. In the present study, we attempt to identify genetic variants that would cause significant functional impact towards susceptibility to dental caries. We investigated single nucleotide polymorphisms (SNPs) of beta-defensin 1 (DEFB1) as predictors of dental caries in tamil ethnic population. A total of 120 subjects were recruited for this study, which included 60 dental caries patients (DMFT>5) and 60 healthy controls (DMFT=0). Three SNPs of 5’UTR regulatory elements of DEFB1 were genotyped by PCR followed by Sanger sequencing. The genotypes associated with susceptibility to caries were found to be significant between rs11362 (p=.025, odds ratio = 3.72, 95% confidence interval (CI) = 1.289-10.742), rs1799946 (p=.023, odds ratio=4.32, 95% CI = 1.33-14.028) gene polymorphisms and risk of dental caries (DMFT>5) in tamil ethnicity. The variant genotype GG of rs1800972 polymorphism was found to be high in cases than controls but was not significant (p=0.136). Our data suggested that β-defensin 1 polymorphisms play a role in the susceptibility to dental caries.

Worth a second look: outcomes of patients with initial finding of regular renal tissue in CT-guided renal tumor biopsies

2018 ◽  
Vol 36 (5) ◽  
pp. 789-792 ◽  
Author(s):  
M. Sadat-Khonsari ◽  
M. Papayannis ◽  
P. Schriefer ◽  
L. Kluth ◽  
C. Meyer ◽  
...  
Keyword(s):  
Renal Tumor ◽  
Renal Tissue ◽  
Initial Finding ◽  
Ct Guided ◽  
Second Look ◽  
Tumor Biopsies

Abstract 18881: New Oral Anticoagulants for Periprocedural Management of Anticoagulation in Patients Undergoing Radiofrequency Catheter Ablation for Atrial Fibrillation: a Meta-analysis

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Abdul Shokor Parwani ◽  
Daniel Blaschke ◽  
Alexander Wutzler ◽  
Martin Huemer ◽  
Phillip Attanasio ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Catheter Ablation ◽  
Odds Ratio ◽  
Observational Studies ◽  
Radiofrequency Catheter Ablation ◽  
Statistical Significance ◽  
Oral Anticoagulants ◽  
Current Evidence ◽  
Minor Bleeding ◽  
Warfarin Group

Introduction: Thromboembolic events are the most feared complication of radiofrequency catheter ablation (RFCA) of atrial fibrillation (AF). The traditional periprocedural anticoagulation approach is discontinuation of vitamin K antagonist and bridging with heparin. Newly procedures are done under therapeutic INR 2-3. Recent studies used periprocedural new direct oral anticoagulants (NOACs). Hypothesis: We evaluated the available evidence on the efficacy and safety of NOACs for periprocedural anticoagulation during RFCA of AF. Methods: Pubmed, Embase and Cochrane Central were searched. Retrospective and prospective studies published as peer-reviewed full-size articles were included if they reported embolic events and major and minor bleeding. Results: Fifteen studies were identified (14 observational studies, 1 small randomized trial). A total of 7050 patients were included (NOACs group: 2887 ). A total of 37 thromboembolic complications occurred (0,5%) with 17 events in the NOAC group (0,6%) and 20 in the warfarin group (0,5%) (odds ratio 0.97, 95% confidence interval (CI) 0.48 to 1.99). Major bleeding were numerically higher in the warfarin group compared to the NOACs group. However, the difference did not reach statistical significance (odds ratio 0.69, CI 0.43 to 1.10). Subgroup analysis did not reveal any differences in event rates. Conclusions: Our review suggests that dabigatran etexilate and rivaroxaban are as effective and safe as warfarin for periprocedural anticoagulation in patients undergoing RFCA of AF. However, it has to be acknowledged that the current evidence is mainly based on observational studies.

scholarly journals Genetic Analysis of Patients With Sickle Cell Anemia and Stroke Before 4 Years of Age Suggest an Important Role for Apoliprotein E

2020 ◽  
Vol 13 (5) ◽  
pp. 531-540
Author(s):  
John N. Brewin ◽  
Alexander E. Smith ◽  
Riley Cook ◽  
Sanjay Tewari ◽  
Julie Brent ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Odds Ratio ◽  
Multiple Testing ◽  
Statistical Significance ◽  
Principal Component ◽  
Population Substructure ◽  
Reference Allele ◽  
Primary Finding

Background: Ischemic stroke is a devastating complication affecting children with sickle cell anemia. Genetic factors are likely to be important in determining the risk of stroke but are poorly defined. Methods: We have studied a cohort of 19 children who had an overt ischemic stroke before 4 years of age. We predicted genetic determinants of stroke would be more prominent in this group. We performed whole exome sequencing on this cohort and applied 2 hypotheses to our variant filtering. First, we looked for strong, potentially mono- or oligogenic variants for ischemic stroke, and second, we considered that more common polygenic variants will be enriched in our cohort. Candidate variants emerging from both strategies were validated in a cohort of 283 patients with sickle cell anemia and known pediatric cerebrovascular outcomes. We used principal component analysis in this cohort to control for relatedness and population substructure. Results: Our primary finding was that the Apoliprotein E genotypes ε2/ε4 and ε4/ ε4, defined by the interplay of rs7412 and rs429358 , were associated with increased stroke risk, with an odds ratio of 4.35 ([95% CI, 1.85–10.0] P =0.0011) for ischemic stroke in the validation cohort. We also found that rs2297518 in NOS (NO synthase) 2 (odds ratio, 2.25 [95% CI, 1.21–4.19]; P =0.014) and rs2230123 in signal transducer and activator of transcription (odds ratio, 2.60 [95% CI, 1.30–5.20]; P =0.009) both had increased odds ratios for ischemic stroke, although these two variants were below the threshold for statistical significance after correction for multiple testing. Conclusions: These data identify new loci for future functional investigations into cerebrovascular disease in sickle cell anemia. Based on African population reference allele frequencies, the Apoliprotein E genotypes would be present in about 10% of children with sickle cell anemia and represent a genetic risk factor that is potentially modifiable by both dietary and pharmaceutical manipulation of its dyslipidemic effects.

scholarly journals Predictors of Unsafe Induced Abortion among Women in Ghana

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Michael Boah ◽  
Stephen Bordotsiah ◽  
Saadogrmeh Kuurdong
Keyword(s):  
Odds Ratio ◽  
Legal Status ◽  
Statistical Significance ◽  
Induced Abortion ◽  
Health Concern ◽  
Unsafe Abortion ◽  
Care Seeking ◽  
Safe Abortion ◽  
Maternal Morbidity And Mortality ◽  
Unwanted Pregnancies

Background. Unsafe induced abortion is a major contributor to maternal morbidity and mortality in Ghana. Objective. This study aimed to explore the predictors of unsafe induced abortion among women in Ghana. Methods. The study used data from the 2017 Ghana Maternal Health Survey. The association between women’s sociodemographic, obstetric characteristics, and unsafe induced abortion was explored using logistic regression. The analysis involved a weighted sample of 1880 women aged 15-49 years who induced abortion in the period 2012-2017. Analysis was carried out using STATA/IC version 15.0. Statistical significance was set at p <0.05. Results. Of the 1880 women, 64.1% (CI: 60.97-67.05) had an unsafe induced abortion. At the univariate level, older women (35-49 years) (odds ratio=0.50, 95% CI: 0.28-0.89) and married women (odds ratio=0.61, 95% CI:0.44-0.85) were less likely to have an unsafe induced abortion while women who did not pay for abortion service (odds ratio=4.44, 95% CI: 2.24-8.80), who had no correct knowledge of the fertile period (odds ratio =1.47, 95% CI: 1.10-1.95), who did not know the legal status of abortion in Ghana (odds ratio =2.50, 95% CI: 1.68-3.72) and who had no media exposure (odds ratio =1.34, 95% CI: 1.04-1.73) had increased odds for an unsafe induced abortion. At the multivariable level, woman’s age, payment for abortion services, and knowledge of the legal status of abortion in Ghana were predictors of unsafe induced abortion. Conclusion. Induced abortion is a universal practice among women. However, unsafe abortion rate in Ghana is high and remains an issue of public health concern. We recommend that contraceptives and safe abortion services should be made available and easily accessible to women who need these services to reduce unwanted pregnancies and unsafe abortion rates, respectively, in the context of women’s health. Also, awareness has to be intensified on abortion legislation in Ghana to reduce the stigma associated with abortion care seeking.

Health Effects of Migration: U.S. Chinese in and outside the Chinatown

1987 ◽  
Vol 21 (3) ◽  
pp. 555-576 ◽  
Author(s):  
Haitung King ◽  
Frances B. Locke
Keyword(s):  
Health Effects ◽  
San Francisco ◽  
Health Risks ◽  
Chinese Population ◽  
Statistical Significance ◽  
Socioeconomic Characteristics ◽  
Study Results ◽  
Causes Of Deaths ◽  
Two Populations ◽  
The U.S

Previous studies on health effects of migration at the international level have seldom been directed to those concentrated in segregated enclaves. This study hypothesizes that in spite of the known deviations in certain demographic and socioeconomic characteristics of Chinatown (San Francisco-N.Y.C.) residents from the U.S. Chinese population, no consistent relationship seems to exist between these attributes and health risks, as reflected in the mortality levels of the two populations. A convergence in mortality was observed for a noticeable number of causes of deaths, with but a few disease-cause sets of non-convergence with statistical significance. The study results were interpreted in terms of varying degree of acculturation experience.

Sign in / Sign up

Export Citation Format

Share Document