Association of a GATA Binding Protein 4 Polymorphism with the Risk of Hypospadias in the Chinese Children

2021 ◽  
pp. 1-6
Author(s):  
Jiawei Chen ◽  
Xinhai Cui ◽  
Aiwu Li ◽  
Guowei Li ◽  
Fengyin Sun
Keyword(s):  
Case Control Study ◽  
Binding Protein ◽  
Luciferase Reporter ◽  
Urogenital System ◽  
Reporter Assay ◽  
Unconditional Logistic Regression ◽  
Functional Polymorphisms ◽  
Child Patients ◽  
Control Study

<b><i>Purpose:</i></b> GATA binding protein 4 (GATA4) has been implicated in the etiology of congenital malformation of the urogenital system. The present study investigated the influence of <i>GATA4</i> polymorphisms on susceptibility to hypospadias. <b><i>Methods:</i></b> We genotyped 4 potentially functional polymorphisms (rs12458, rs12825, rs884662, and rs904018) in <i>GATA4</i> in the hospital-based case-control study including 410 child patients and 520 nonmalformed individuals by the TaqMan MGB method. Risk associations were assessed using unconditional logistic regression, adjusted for potential confounding factors. <b><i>Results:</i></b> A significant association was found between rs12458 (3′-UTR of <i>GATA4</i>) and susceptibility to hypospadias (<i>p</i> = 0.008). Compared with rs12458 AA genotype individuals, those harboring the variant allele (rs12458 AT/TT) were correlated with significantly higher risk of hypospadias (AT/TT vs. AA: OR = 1.42, 95% CI = 1.17–2.35, <i>p</i> = 0.036). Furthermore, the rs12458T allele showed significantly decreased activity in a luciferase reporter assay, indicating a possible role of rs12458 variant in regulating the combination of microRNAs with the <i>GATA4</i> mRNA. <b><i>Conclusions:</i></b> The present results indicate that the functional <i>GATA4</i> rs12458 variant confers individuals’ susceptibility to hypospadias, possibly through regulating the <i>GATA4</i> expression level.

scholarly journals Role of Functional Polymorphisms of VEGF and risk of breast cancer in north-western Indians: A Case-Control Study

2017 ◽  
Vol 28 ◽  
pp. vii16-vii17
Author(s):  
K. Guleria ◽  
V. Sambyal ◽  
R. Kapahi ◽  
M. Manjari ◽  
M. Sudan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Case Control Study ◽  
Case Control ◽  
Functional Polymorphisms ◽  
North Western ◽  
Control Study

scholarly journals A Function Variant at miR-501 Alters Susceptibility to Hepatocellular Carcinoma in a Chinese Han Population

2016 ◽  
Vol 38 (6) ◽  
pp. 2500-2508 ◽  
Author(s):  
Yang Liu ◽  
Yi Chai ◽  
Jian Zhang ◽  
Junwei Tang
Keyword(s):  
Hepatocellular Carcinoma ◽  
Cell Proliferation ◽  
Case Control Study ◽  
Case Control ◽  
Luciferase Reporter Assay ◽  
Luciferase Reporter ◽  
Reporter Assay ◽  
Study Results ◽  
Control Study ◽  
Dual Luciferase Reporter Assay

Backgroud/Aims: Previous studies have shown that miR-501 is involved in the development of hepatocellular carcinoma (HCC) by promoting cell proliferation through CYLD. From the published MirSNP database that enrolls all single nucleotide polymorphisms(SNPs) of microRNA (miRNA), we found an interesting SNP (rs112489955, G>A) located in the mature region of miR-501. Methods: We performed a case-control study focusing on the predicted SNP located in miRNA-501 to investigate the further relationship of the SNPs with miRNAs among HCC patients. Genotyping, real time PCR assay, cell transfection and the dual luciferase reporter assay were used in our study. Results: Bioinformatic analysis indicated that this SNP would inhibit the binding of miR-501 to CYLD. In a case-control study, subjects with the variant genotypes (AG, GG) showed a significantly increased risk of HCC relative to AA carriers. A significant association of miR-501 variant genotypes with enhanced tumor growth was also observed. Further functional analyses indicated that patients with the AA genotype might attenuate the level of CYLD compared to that regulated by miR-501 with the GG genotype. A dual luciferase reporter assay also confirmed that miR-501 with the A allele had reduced binding to CYLD. We further confirmed a suppression of cell proliferation and promotion of apoptosis in SMMC-7721 and Hep3B cell lines treated with the AA genotype. Conclusions: We identified a novel SNP located in miR-501 acting as an important factor of the HCC susceptibility by modulating miR-501 and CYLD levels.

Role of Functional Polymorphisms of P53 and P73 Genes with the Risk of Prostate Cancer in a Case-Control Study from Northern India

2011 ◽  
Vol 42 (2) ◽  
pp. 122-127 ◽  
Author(s):  
Rama Devi Mittal ◽  
Ginu P. George ◽  
Jyotsna Mishra ◽  
Tulika Mittal ◽  
Rakesh Kapoor
Keyword(s):  
Prostate Cancer ◽  
Case Control Study ◽  
Case Control ◽  
Functional Polymorphisms ◽  
Northern India ◽  
Control Study

scholarly journals Impact of PD-1 gene polymorphism and its interaction with tea drinking on susceptibility to tuberculosis

2021 ◽  
Vol 149 ◽  
Author(s):  
Jing Wang ◽  
Mian Wang ◽  
Zihao Li ◽  
Xinyin Wu ◽  
Xian Zhang ◽  
...  
Keyword(s):  
Case Control Study ◽  
Preventive Measures ◽  
Nucleotide Polymorphisms ◽  
Unconditional Logistic Regression ◽  
Negative Interaction ◽  
Single Nucleotide ◽  
High Risk Populations ◽  
Tea Drinking ◽  
The Impact ◽  
Control Study

Abstract The aim of this study was to explore the impact of polymorphism of PD-1 gene and its interaction with tea drinking on susceptibility to tuberculosis (TB). A total of 503 patients with TB and 494 controls were enrolled in this case–control study. Three single-nucleotide polymorphisms of PD-1 (rs7568402, rs2227982 and rs36084323) were genotyped and unconditional logistic regression analysis was used to identify the association between PD-1 polymorphism and TB, while marginal structural linear odds models were used to estimate the interactions. Genotypes GA (OR 1.434), AA (OR 1.891) and GA + AA (OR 1.493) at rs7568402 were more prevalent in the TB patients than in the controls (P < 0.05). The relative excess risk of interaction (RERI) between rs7568402 of PD-1 genes and tea drinking was −0.3856 (95% confidence interval −0.7920 to −0.0209, P < 0.05), which showed a negative interaction. However, the RERIs between tea drinking and both rs2227982 and rs36084323 of PD-1 genes were not statistically significant. Our data demonstrate that rs7568402 of PD-1 genes was associated with susceptibility to TB, and there was a significant negative interaction between rs7568402 and tea drinking. Therefore, preventive measures through promoting the consumption of tea should be emphasised in the high-risk populations.

scholarly journals Diagnostic utility of a Ferritin-to-Procalcitonin Ratio to differentiate patients with COVID-19 from those with Bacterial Pneumonia: A multicenter study

2021 ◽  
Author(s):  
Amal A Gharamti ◽  
Fei Mei ◽  
Katherine C Jankousky ◽  
Jin Huang ◽  
Peter Hyson ◽  
...  
Keyword(s):  
Bacterial Pneumonia ◽  
Operating Characteristic ◽  
Case Control Study ◽  
Receiver Operating Characteristic Analysis ◽  
Similar Proportion ◽  
Characteristic Analysis ◽  
Multivariable Analyses ◽  
Prevalence Of Diabetes Mellitus ◽  
Control Study

Abstract Background There is an urgent need for accurate, rapid, inexpensive biomarkers that can differentiate COVID-19 from bacterial pneumonia. We assess the role of the ferritin-to-procalcitonin (F/P) ratio to classify pneumonia cases into those due to COVID-19 or due to bacterial pathogens. Methods This multicenter case-control study compared patients with either COVID-19 and bacterial pneumonia, admitted between March 1 and May 31, 2020. Patients with COVID-19 and bacterial pneumonia co-infection were excluded. The F/P in patients with COVID-19 or with bacterial pneumonia were compared. Receiver operating characteristic analysis determined the sensitivity and specificity of various cut-off F/P values for COVID-19 versus bacterial pneumonia. Results A total of 242 COVID-19 pneumonia cases and 34 bacterial pneumonia controls were included. Patients with COVID-19 pneumonia had a lower mean age (57.11 vs 64.4 years, p=0.02) and a higher BMI (30.74 vs 27.15 kg/m 2, p=0.02) compared to patients with bacterial pneumonia. Cases and controls had a similar proportion of women (47% vs 53%, p=0.5) and COVID-19 patients had a higher prevalence of diabetes mellitus (32.6% vs 12%, p=0.01). The median F/P was significantly higher in patients with COVID-19 (4037.5) compared to the F/P in bacterial pneumonia (802, p&lt;0.001). An F/P ≥ 877 used to diagnose COVID-19 resulted in a sensitivity of 85% and a specificity of 56%, with a positive predictive value of 93.2%, and a likelihood ratio of 1.92. In multivariable analyses, an F/P ≥ 877 was associated with greater odds of identifying a COVID-19 case (OR: 11.27, CI: 4-31.2, p&lt;0.001). Conclusion An F/P ≥ 877 increases the likelihood of COVID-19 pneumonia compared to bacterial pneumonia.

scholarly journals Gly972Arg Variant of Insulin Receptor Substrate 1 Gene and Colorectal Cancer Risk in Overweight/Obese Subjects

2016 ◽  
Vol 31 (1) ◽  
pp. 68-72 ◽  
Author(s):  
Touraj Mahmoudi ◽  
Keivan Majidzadeh-A ◽  
Khatoon Karimi ◽  
Hamid Farahani ◽  
Reza Dabiri ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Insulin Receptor ◽  
Case Control Study ◽  
Insulin Receptor Substrate ◽  
Protective Effects ◽  
Insulin Receptor Substrate 1 ◽  
Pcr Rflp ◽  
Obese Subjects ◽  
Control Study

Background Given the major role of obesity and insulin resistance (IR) in colorectal cancer (CRC), we investigated whether genetic variants in ghrelin ( GHRL), resistin ( RETN) and insulin receptor substrate 1 ( IRS1) were associated with CRC risk. Methods This study was conducted as a case-control study, and 750 subjects, including 438 controls and 312 patients with CRC, were enrolled and genotyped using the PCR-RFLP method. Results No significant differences were observed for GHRL (rs696217), RETN (rs3745367) and IRS1 (rs1801278, Gly972Arg or G972R) gene variants between the cases and controls. However, the IRS1 G972R R allele compared with the G allele and the G972R RR+GR genotype compared with the GG genotype appeared to be markers of decreased CRC susceptibility in the overweight/obese subjects (p = 0.024; odds ratio [OR] = 0.42, 95% confidence interval [95% CI], 0.20-0.91; and p = 0.048; OR = 0.42, 95% CI, 0.17-0.99, respectively). Furthermore, the R allele and RR+GR genotype were also associated with decreased risks for obesity in the patients with CRC (p = 0.007; OR = 0.35, 95% CI, 0.15-0.77; and p = 0.015; OR = 0.35, 95% CI, 0.15-0.72, respectively). Conclusions In accordance with previous studies, our findings suggest that the IRS1 G972R R allele and RR+GR genotype have protective effects for CRC in overweight/obese patients and for obesity in patients with CRC. Nevertheless, further studies are required to confirm these findings.

scholarly journals MicroRNA-384 Inhibits the Growth and Invasion of Renal Cell Carcinoma Cells by Targeting Astrocyte Elevated Gene 1

2018 ◽  
Vol 26 (3) ◽  
pp. 457-466 ◽  
Author(s):  
Haitao Song ◽  
Yanwei Rao ◽  
Gang Zhang ◽  
Xiangbo Kong
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Bioinformatic Analysis ◽  
Carcinoma Cells ◽  
Luciferase Reporter ◽  
Reporter Assay ◽  
Antitumor Effects ◽  
Potential Therapeutic Target

MicroRNAs (miRNAs) are emerging as pivotal regulators in the development and progression of various cancers, including renal cell carcinoma (RCC). MicroRNA-384 (miR-384) has been found to be an important cancer-related miRNA in several types of cancers. However, the role of miR-384 in RCC remains unclear. In this study, we aimed to investigate the potential function of miR-384 in regulating tumorigenesis in RCC. Here we found that miR-384 was significantly downregulated in RCC tissues and cell lines. Overexpression of miR-384 significantly inhibited the growth and invasion of RCC cells, whereas inhibition of miR-384 had the opposite effects. Bioinformatic analysis and luciferase reporter assay showed that miR-384 directly targeted the 3′-untranslated region of astrocyte elevated gene 1 (AEG-1). Further data showed that miR-384 could negatively regulate the expression of AEG-1 in RCC cells. Importantly, miR-384 expression was inversely correlated with AEG-1 expression in clinical RCC specimens. Moreover, miR-384 regulates the activation of Wnt signaling. Overexpression of AEG-1 significantly reversed the antitumor effects of miR-384. Overall, these findings suggest that miR-384 suppresses the growth and invasion of RCC cells via downregulation of AEG-1, providing a potential therapeutic target for the treatment of RCC.

scholarly journals P2-233: The role of hippocampal atrophy for the differentiation between MCI subtypes: Results of a case-control study

2012 ◽  
Vol 8 (4S_Part_9) ◽  
pp. P341-P341
Author(s):  
Martha Dlugaj ◽  
Christoph Mönninghoff ◽  
Hans-Jürgen Huppertz ◽  
Isabel Wanke ◽  
Daniel Jokisch ◽  
...  
Keyword(s):  
Case Control Study ◽  
Case Control ◽  
Hippocampal Atrophy ◽  
Control Study
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