scholarly journals The Association between Micro-RNA Gene Polymorphisms and Development of Hepatocellular Carcinoma in Egyptian Patients

2021 ◽  
Author(s):  
Maha Allam ◽  
Karema Diab ◽  
Fatma Khalil ◽  
Fatma Khalaf ◽  
Mohamed Abdel-Samiee ◽  
...  
Keyword(s):  
Risk Factors ◽  
Hepatocellular Carcinoma ◽  
Gene Polymorphisms ◽  
Tumor Staging ◽  
Staging System ◽  
Micro Rna ◽  
Nucleotide Polymorphisms ◽  
Group I ◽  
Increased Risk ◽  
Egyptian Patients

IntroductionThe development and progression of hepatocellular carcinoma (HCC) is a multistage process involving the deregulation of genes that are crucial to cellular processes. Multiple risk factors are correlated with HCC. MicroRNA is differentially expressed in development of different types of malignancies, including hepatic malignancy. Single nucleotide polymorphisms (SNPs) are the most common sequence variation in human genome. SNPs in miRNAs may affect transcription, processing or target recognition and result in malignant diseases. Aim: To determine the association between micro-RNA gene polymorphisms and development of HCC in Egyptian Patients.Material and methodsThis study included 200 individual who were matched in age and sex. Tumor staging was done using BCLC staging system. Quantification and genotyping of Micro-RNA were performed.ResultsAmong the 200 patients, 2 groups were described: group I included 90 HCC patients with a male majority (72.2%) and 110 controls in group II. Diabetes and hypertension were detected as risk factors. Three microRNA SNPs were assayed. There was a significant association between rs10061133 miR-499b and the risk of HCC. The genotypes GG or G allele were associated significantly to an increased risk of HCC (GG: OR (95% CI) = 2.91 (1.23-4.22), p = 0.013; G allele: OR (95% CI) = 1.79 (1.12- 2.15), p = 0.026) compared with the genotype of AA or AG or A allele.ConclusionsThere is an association between the mi-RNA SNPs and the susceptibility to HCC, aiming to explore some roles and mechanisms of SNPs within miRNAs in the occurrence and development of HCC.

scholarly journals Tumor necrosis factor (TNF)-α- 308 G/A gene polymorphism (rs1800629) in Egyptian patients with alopecia areata and vitiligo, a laboratory and in silico analysis

PLoS ONE ◽  
2020 ◽  
Vol 15 (12) ◽  
pp. e0240221
Author(s):  
Talal Abd El-Raheem ◽  
Rania H. Mahmoud ◽  
Enas M. Hefzy ◽  
Mohamed Masoud ◽  
Reham Ismail ◽  
...  
Keyword(s):  
Risk Factors ◽  
Alopecia Areata ◽  
In Silico ◽  
In Silico Analysis ◽  
Nucleotide Polymorphisms ◽  
Sp1 Transcription Factor ◽  
Increased Risk ◽  
Tnf Α ◽  
Egyptian Patients ◽  
Subsequent Effect

Purpose & methods Several single-nucleotide polymorphisms (SNPs) in the promoter region of the TNF-α gene can cause variations in the gene regulatory sites and act as risk factors for some autoimmune disorders as alopecia areata (AA) and vitiligo. This study aimed to detect the serum TNF-α (sTNF) level (by ELISA) and the rs1800629 (by real-time PCR) among AA and vitiligo Egyptian patients and to determine their relation with disease duration and severity. In silico analysis of this SNP to study the molecular regulation of the mutant genotypes was also done. Results In AA patients, no risk was associated with the mutant genotypes vs. the normal genotype, or with A allele vs. G allele. The risk of vitiligo was significantly higher with the G/A and A/A genotypes compared with HCs (p = 0.011). Similarly, a significantly increased risk was noted in patients with A allele vs. G allele (p<0.0001). In AA and vitiligo patients, a significant increase in sTNF-α levels was noted in the mutant G/A genotypes vs. the normal G/G genotype (p<0.0001) and in the A allele vs the G allele (p<0.0001). According to the in silico analysis, this SNP could mainly affect the SP1 transcription factor binding site with subsequent effect on TNF-α expression. Conclusion According to results of the laboratory and the in silico study, the mutant TNF-α (308) genotypes were risk factors that conferred susceptibility to vitiligo among Egyptian patients but had no effect on the susceptibility to AA.

Expression of a Disintegrin and Metalloprotease 10 Gene Polymorphisms in a Cohort of Egyptian Patients with Hepatocellular Carcinoma

2021 ◽  
Vol 17 ◽  
Author(s):  
Amal Ahmed Mohamed ◽  
Dina M. Abo-Elmatty ◽  
Omnia I ezzat ◽  
Ahmed A. Youssef ◽  
Eman T. Mehanna ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Nucleotide Polymorphisms ◽  
Abdominal Ultrasonography ◽  
Therapeutic Goals ◽  
Group Iii ◽  
Group I ◽  
Significant Difference ◽  
Egyptian Patients ◽  
Adams Family ◽  
And Control

Background: Hepatocellular carcinoma (HCC) is the third leading cause of cancer mortality. There is a need for a marker associated with HCC progression. A disintegrin and metalloprotease (ADAMs) family proteins have a lot of functions in cell adhesion, migration, proteolysis and signaling. Aim: The aim of the study was to investigate the relation between ADAM 10 gene single nucleotide polymorphisms (SNPs) and HCC progression. Methods: This study involved 201 cases divided: Group I (67 HCC patients), Group II (67 cirrhotic patients), Group III (67 control). Each group was subjected to laboratory investigations: (CBC, blood sugar, kidney and liver function, viral markers, alpha fetoprotein), imaging: (abdominal ultrasonography, and triphasic C.T) and ADAM 10 gene polymorphism (rs 653765, rs 383902) detection by real – time PCR. Results: There was a statistically significant difference in the frequency and genotyping of ADAM10 SNPs in HCC patients in comparison to cirrhotic and control groups [the frequency of rs 653765 genotypes (p=0.015) and model (p=0.013)]; likewise, the frequency of rs 383902 genotypes (p<0.001) and model (p=0.001)). Also, there was a statistically significant association between different SNP rs 383902 genotype with CLIP stages (p=0.02), and with VISUM stages (p=0.035). Conclusion: ADAM-10 are overexpressed in HCC patients and involved in HCC progress. These findings highlight that ADAM inhibitor may be used as therapeutic goals in treatment of HCC.

Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population

2021 ◽  
pp. 112067212110026
Author(s):  
Pablo Gili ◽  
Leyre Lloreda Martín ◽  
José-Carlos Martín-Rodrigo ◽  
Naon Kim-Yeon ◽  
Laura Modamio-Gardeta ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Gene Polymorphisms ◽  
Age Related Macular Degeneration ◽  
Spanish Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Exudative Amd ◽  
Age Related ◽  
Increased Risk

Purpose: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. Methods: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. Results: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17–18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93–5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47–4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23–9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62–11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06–9.06). Conclusion: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.

scholarly journals Cumulative incidence and risk factors for radiation induced leukoencephalopathy in high grade glioma long term survivors

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Robert Terziev ◽  
Dimitri Psimaras ◽  
Yannick Marie ◽  
Loic Feuvret ◽  
Giulia Berzero ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cumulative Incidence ◽  
High Grade Glioma ◽  
High Grade ◽  
Nucleotide Polymorphisms ◽  
Increased Risk ◽  
Radiation Induced ◽  
Long Term Survivors

AbstractThe incidence and risk factors associated with radiation-induced leukoencephalopathy (RIL) in long-term survivors of high-grade glioma (HGG) are still poorly investigated. We performed a retrospective research in our institutional database for patients with supratentorial HGG treated with focal radiotherapy, having a progression-free overall survival > 30 months and available germline DNA. We reviewed MRI scans for signs of leukoencephalopathy on T2/FLAIR sequences, and medical records for information on cerebrovascular risk factors and neurological symptoms. We investigated a panel of candidate single nucleotide polymorphisms (SNPs) to assess genetic risk. Eighty-one HGG patients (18 grade IV and 63 grade III, 50M/31F) were included in the study. The median age at the time of radiotherapy was 48 years old (range 18–69). The median follow-up after the completion of radiotherapy was 79 months. A total of 44 patients (44/81, 54.3%) developed RIL during follow-up. Twenty-nine of the 44 patients developed consistent symptoms such as subcortical dementia (n = 28), gait disturbances (n = 12), and urinary incontinence (n = 9). The cumulative incidence of RIL was 21% at 12 months, 42% at 36 months, and 48% at 60 months. Age > 60 years, smoking, and the germline SNP rs2120825 (PPARg locus) were associated with an increased risk of RIL. Our study identified potential risk factors for the development of RIL (age, smoking, and the germline SNP rs2120825) and established the rationale for testing PPARg agonists in the prevention and management of late-delayed radiation-induced neurotoxicity.

scholarly journals Current Trends and Characteristics of Hepatocellular Carcinoma in Patients with Autoimmune Liver Diseases

Cancers ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 1023
Author(s):  
Eirini I. Rigopoulou ◽  
George N. Dalekos
Keyword(s):  
Risk Factors ◽  
Hepatocellular Carcinoma ◽  
Liver Diseases ◽  
Treatment Modalities ◽  
Primary Biliary Cholangitis ◽  
Autoimmune Liver Diseases ◽  
Increased Risk ◽  
Liver Cancers ◽  
Medium Risk ◽  
Causes Of Mortality

Hepatocellular carcinoma (HCC), the commonest among liver cancers, is one of the leading causes of mortality among malignancies worldwide. Several reports demonstrate autoimmune liver diseases (AILDs), including autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC) to confer increased risk of hepatobiliary malignancies, albeit at lower frequencies compared to other liver diseases. Several parameters have been recognized as risk factors for HCC development in AIH and PBC, including demographics such as older age and male sex, clinical features, the most decisive being cirrhosis and other co-existing factors, such as alcohol consumption. Moreover, biochemical activity and treatment response have been increasingly recognized as prognostic factors for HCC development in AIH and PBC. As available treatment modalities are effective only when HCC diagnosis is established early, surveillance has been proven essential for HCC prognosis. Considering that the risk for HCC is not uniform between and within disease groups, refinement of screening strategies according to prevailing demographic, clinical, and molecular risk factors is mandated in AILDs patients, as personalized HCC risk prediction will offer significant advantage in patients at high and/or medium risk. Furthermore, future investigations should draw attention to whether modification of immunosuppression could benefit AIH patients after HCC diagnosis.

scholarly journals The expression of microRNA-331-3p and microRNA-23b3 in Egyptian patients with early-stage hepatocellular carcinoma in hepatitis C-related liver cirrhosis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Reham A. Aboelwafa ◽  
Walid Ismail Ellakany ◽  
Marwa A. Gamaleldin ◽  
Marwa A. Saad
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Cirrhosis ◽  
Hepatitis C ◽  
Early Stage ◽  
Group Iii ◽  
Real Time Quantitative Pcr ◽  
Early Stages ◽  
Group I ◽  
Egyptian Patients ◽  
Cirrhotic Patients

Abstract Background Hepatocellular carcinoma and hepatitis C are strongly associated. The current work aimed to study the expression levels of microRNA-331-3p and microRNA-23b-3p as propable biomarkers for detecting liver cancer (HCC) at its early stages in patients with HCV-related liver cirrhosis. The current prospective study included two hundred participants, divided into three groups: group I, 100 patients with HCV-related liver cirrhosis; group II, 50 HCC patients at early stages; and group III, 50 apparentlyhealthy controls. All patients had routine laboratory workup and ultrasound hepatic assessment. Values of microRNA-331-3p and microRNA-23b-3p were measured by real-time quantitative PCR. Results Levels of miR-331-3p were significantly higher in HCC patients than in cirrhotic patients and controls (p < 0.001), while levels of miR-23b-3p were significantly lower in HCC patients compared to cirrhotics and controls (p < 0.001). ROC curve revealed that miR-23b-3p had 80% sensitivity and 74% specificity, miR-331-3p had 66% sensitivity and 61% specificity, and AFP had 64% sensitivity and 61% specificity of 61% in discrimination between HCC patients from controls. Conclusion Serum miR-23b-3p is a more effective predictor than miR-331-3p and AFP for the development of hepatocellular carcinoma in hepatitis C (HCV)-related cirrhotic patients.

scholarly journals The Association of XRCC1 Gene Polymorphisms and Chronic Hepatitis C Induced Insulin Resistance in Egyptian Patients

Cells ◽  
2018 ◽  
Vol 7 (11) ◽  
pp. 185
Author(s):  
Salwa Abo El-khair ◽  
Mona Arafa ◽  
Tarek Besheer ◽  
Ahmed El-Eraky ◽  
Ayman Elsamanoudy
Keyword(s):  
Insulin Resistance ◽  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Chronic Hepatitis C ◽  
Gene Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Xrcc1 Gene ◽  
Egyptian Patients ◽  
Pcr Rflp ◽  
Chronic Hcv

Chronic hepatitis C is implicated in insulin resistance (IR) susceptibility. An X-ray repair cross-complementing group 1 gene (XRCC1) is proposed to be a candidate gene for a study of IR susceptibility. So, this study aims to investigate the possible association of the XRCC1 gene polymorphisms with the risk of IR related to chronic hepatitis C virus (HCV) infection in Egyptian patients. In a case-control study, a total of 210 subjects, including 140 chronic HCV patients (87 patients with IR and 53 without IR) and 70 healthy controls, were included. Two genetic polymorphisms (c.1254C > T and c.1517G > C) of the XRCC1 gene were genotyped via the PCR-restriction fragment length polymorphism (PCR-RFLP) technique. The result of the current study revealed that these two single nucleotide polymorphisms (SNPs) have statistically significant influences on susceptibility to IR in chronic HCV infected Egyptian patients. It could be concluded that c.1254C > T, the TT genotype, CT/CC carriers as well as c.1517G > C, the CC genotype and GC/GG carriers might be associated with increased IR susceptibility. Moreover, T-allele of c.1254C > T and the C-allele of c.1517G > C genetic variants might influence the susceptibility.

scholarly journals Association of VEGF Gene Polymorphisms with Susceptibility to Diabetic Retinopathy: A Systematic Review and Meta-Analysis

2020 ◽  
Vol 52 (05) ◽  
pp. 264-279
Author(s):  
Xiaorong Li ◽  
Juping Liu ◽  
Qianhui Yang ◽  
Yan Zhang ◽  
Xiaomin Zhang
Keyword(s):  
Diabetic Retinopathy ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Vascular Endothelial ◽  
Nucleotide Polymorphisms ◽  
Vegf Gene ◽  
Asian Populations ◽  
Increased Risk ◽  
Endothelial Growth Factor

AbstractThe associations between vascular endothelial growth factor (VEGF) gene polymorphisms and risk of type 2 diabetic retinopathy (DR) – proliferative diabetic retinopathy (PDR), and nonproliferative diabetic retinopathy (NPDR) – remain unclear. A systematic search and meta-analysis using odds ratio (OR) with 95% confidence interval (CI) was performed to evaluate the association. Our study concluded 26 studies containing 10 single nucleotide polymorphisms (SNPs). In Asian populations, rs3025039 polymorphism was associated with DR risk, while in overall populations and Caucasians, the DR risk was increased by association with rs2010963. There was a significant association between rs25648 and rs833061 and DR risk in Caucasians. DR risks were found to be significantly associated between rs3025021, rs13207351, and rs2146323 in either overall populations, Caucasians or Asians. Besides, in overall and Asian populations, rs699947 and rs3025039 were associated with PDR risk. rs1570360, rs3025039, and rs833061 played a key role in PDR etiology in Caucasians. rs2010963 was associated with increased risk of PDR in overall populations. A significant association between rs699947, rs3025039, and rs833061 and NPDR risk in overall populations and Asians was found. A significant association was observed between rs2010963 and increased NPDR risk in overall and Caucasian populations. This study provides a new insight into the parthenogenesis of diabetic retinopathy. Targeting VEGF SNPs may be a potential of therapeutic approach for the treatment of DR, PDR, and NPDR.

scholarly journals Associations between hepatocellular carcinoma risk and rs3212227 and rs568408 polymorphisms: a systematic review and meta-analysis

2020 ◽  
Vol 48 (8) ◽  
pp. 030006052094342
Author(s):  
Cunqing Kong ◽  
Miao Chen ◽  
Xiaohui Fan ◽  
Xingcai Chen
Keyword(s):  
Hepatocellular Carcinoma ◽  
Gene Polymorphisms ◽  
Web Of Science ◽  
Meta Analysis ◽  
Interleukin 12 ◽  
Knowledge Infrastructure ◽  
Increased Risk ◽  
Model C ◽  
Allele Model ◽  
Carcinoma Risk

Background Interleukin-12 (IL-12) is considered to be a risk factor for cancer; however, its role in hepatocellular carcinoma (HCC) remains unknown. This study aimed to explore the impacts of the IL-12 rs3212227 and rs568408 gene polymorphisms on HCC. Methods We searched PubMed, Embase, Web of Science, and Chinese Knowledge Infrastructure databases for studies on the associations between HCC and IL-12 rs568408 and rs3212227 polymorphisms published prior to 1 May 2020. The effects of the polymorphisms on HCC susceptibility were presented as odds ratios (ORs) and associated 95% confidence intervals. Results Seven studies were ultimately included, including 2375 cases and 3445 controls. The rs3212227 polymorphism was significantly associated with the risk of HCC in both the dominant model (CC+AC vs. AA, OR=1.22) and the allele model (C vs. A, OR=1.12). Combined analysis of rs568408 yielded a significant relative risk for HCC in the dominant (AA+AG vs. GG, OR=1.13), recessive (AA vs. AG+GG, OR=1.72), allele (A vs. G, OR=1.29), heterozygote (AG vs. GG, OR=1.27), and homozygote models (AA vs. GG, OR 1.17). Conclusion The IL-12 rs3212227 and rs568408 gene polymorphisms are associated with an increased risk of HCC.

scholarly journals Single Nucleotide Polymorphisms inmiR-122Are Associated with the Risk of Hepatocellular Carcinoma in a Southern Chinese Population

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Chunhua Bei ◽  
Shun Liu ◽  
Xiangyuan Yu ◽  
Moqin Qiu ◽  
Bo Tang ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Chinese Population ◽  
Target Genes ◽  
Risk Group ◽  
High Risk Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Southern Chinese ◽  
Increased Risk

Single nucleotide polymorphisms (SNPs) in microRNA may affect its expression and regulation of target genes, which may consequently alter individual susceptibility to cancer. In this study we aimed to investigate associations betweenmiR-122polymorphisms and hepatocellular carcinoma (HCC) in a southern Chinese population. Three selected SNPs inmiR-122(rs9966765, rs1135519, and rs17669) were genotyped in 1050 HCC patients and 1079 cancer-free controls using Sequenom MassARRAY platform and the associations of the three SNPs and HCC risk were evaluated. We found that individuals with the rs1135519 CC genotypes had a significant increased risk of HCC than those with TT genotypes (adjusted OR=2.71, 95% CI=1.15-6.36, andP=0.022), while the rs9966765 CC genotypes showed a borderline significant association with increased risk of HCC when compared with the GG genotypes (adjusted OR=2.38, 95% CI=0.99-5.75, andP=0.052). There was also a significant increased risk of HCC when combining risk genotypes of these loci, i.e., rs1135519 CC and rs9966765 CC. Compared with the low-risk group (0 risk genotype), the high risk group (1-2 risk genotypes) had significantly increased risk of HCC (OR=1.61, 95% CI=1.05-2.44, andP=0.028). Further genotype-expression analysis revealed that cases carrying the CC genotype of rs1135519 had lower levels ofmiR-122expression than those with the TT genotype. Our results suggest that SNP of rs1135519 modulatesmiR-122expression and contributes to the genetic susceptibility of HCC, either independently or together with rs9966765 inmiR-122.Further well-designed studies with lager sample sizes are needed to confirm our findings.

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