scholarly journals Interleukin-18 polymorphism as a diagnostic tumor marker for hepatocellular carcinoma in patients with hepatitis C-related cirrhosis

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ayman Abdelghaffar Eldesoky ◽  
Nancy Abdel Fattah Ahmed ◽  
Hosam Eldeen Zaghloul ◽  
Amr Ahmed Abdel Aziz
Keyword(s):  
Hepatocellular Carcinoma ◽  
Hepatitis C ◽  
Tumor Marker ◽  
Subsequent Development ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Interleukin 18 ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Cirrhotic Patients

Abstract Background Egypt has the highest hepatitis C virus prevalence worldwide where about 24% of the people are estimated to carry HCV and more than 50% of blood donors have anti-HCV in some towns. The burden of hepatocellular carcinoma has been increasing in Egypt with a doubling in the incidence rate in the past 10 years. Thus, the aim of the present study was to analyze the interleukin-18 single nucleotide polymorphisms (SNPs) as a diagnostic tumor marker for hepatocellular carcinoma in patients with hepatitis C-related cirrhosis. Results This study included 33 hepatocellular carcinoma (HCC) complicating HCV-related cirrhosis patients, 37 cirrhotic patients without HCC (cirrhosis group), and 20 healthy individuals who were included as a control for 9 months of follow-up. SNPs of the IL-18 gene were genotyped by polymerase chain reaction. There was a statistically significant difference in the GG genotype in the HCC group in comparison with the control group (P = 0.04). There was a statistically significant difference in the G allele in the cirrhosis and HCC groups in comparison with the control group (p1 < 0.001 and p2 = 0.03, respectively). Patients with GC genotype have a risk for developing HCC by 6.33-folds more than those with GG genotype while patients with GC genotype have a risk for developing cirrhosis by 5.43-folds more than those with GG genotype, and cirrhotic patients with CC and GC genotype had a risk for developing HCC by 1.17-folds more than those with GG genotype. Conclusion Our findings revealed that the analysis of IL-18 single nucleotide gene polymorphism could be a valuable marker for the prediction of progress towards cirrhosis in chronic HCV patients and also to subsequent development of HCC in HCV cirrhotic patients proved by the results of both GG genotype and its G allele; also, cirrhotic patients with CC and GC genotype have a risk for developing HCC by 1.17-folds more than those with GG genotype.

scholarly journals Evaluation of the Association between Programmed Cell Death-1 Gene Polymorphisms and Hepatocellular Carcinoma Susceptibility in Turkish Subjects. A Pilot Study

2020 ◽  
Author(s):  
Abdullah Fatih Demirci ◽  
Coskun Ozer Demirtas ◽  
Fatih Eren ◽  
Demet Yilmaz ◽  
Caglayan Keklikkiran ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Cell Death ◽  
Programmed Cell Death ◽  
Turkish Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Programmed Cell Death 1 ◽  
Significant Difference ◽  
And Control

Background and Aims: Programmed cell death-1 (PD-1) has a vital role in regulating T-cell function, and immune escape mechanism of cancer cells. It was shown that there could be a relationship between single nucleotide polymorphisms (SNPs) in the PD-1 gene and susceptibility to hepatocellular carcinoma (HCC) based on various studies. We aimed to investigate the role of three SNPs within the PD-1 gene in susceptibility to HCC in the Turkish population. Methods: Single nucleotide polymorphisms of PD-1.1, 1.5, and 1.6 were genotyped by using TaqMan Allelic Discrimination Assays in blood samples of 137 HCC and 136 control subjects, matched for age and gender. The genotype, allele and haplotype frequencies were compared in HCC and control groups using logistic regression analysis. Results: Genotype distributions of PD-1.1, PD-1.5 and PD-1.6 SNPs were in Hardy-Weinberg equilibrium. No significant difference was observed in the genotype distribution of PD-1.1, PD-1.5 and PD-1.6 polymorphisms among gender and age-matched HCC (M/F: 96/41; mean age: 61.4 ±11.7 years) and control group (M/F: 94/42; mean age: 61.4±10.1). In the haplotype analysis of PD-1.1/PD-1.5/PD-1.6, no significant difference was found among HCC and control group adjusted for sex and age (all p values>0.1). Conclusion: Our findings, firstly reporting the association of PD-1.5 polymorphism with HCC, and PD-1.1 and PD-1.6 with HCC in the Turkish population, suggest that PD-1 polymorphisms are not predisposing factors for HCC development. Future studies with larger sample sizes and different ethnic populations are required to validate our findings.

scholarly journals Interleukin-18 and its gene single nucleotide polymorphisms (SNPs) influence chronic hepatitis C progression

2018 ◽  
Vol 12 (04) ◽  
pp. 257-264 ◽  
Author(s):  
Ebada M Said ◽  
Mohamed S Soliman ◽  
Hend Ibrahim Shousha ◽  
Mohamed Sanad Rashed ◽  
Abeer Abo Elazm ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Liver Disease ◽  
Hepatitis C ◽  
Plasma Level ◽  
Plasma Levels ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Interleukin 18 ◽  
Single Nucleotide ◽  
Its Gene

Introduction: Interleukin-18 (IL-18) is a pro-inflammatory cytokine that is induced by hepatitis C virus (HCV) infection. Inter-individual variations of IL-18 gene expression may alter HCV-associated liver injury. Variable single nucleotide polymorphisms (SNPs) have been detected within IL-18 gene sequence. Quantitative assessment of IL-18 plasma level and detection of genotype frequencies of 2 functional polymorphisms of its gene (-607 C/A and -137 G/C) were done to assess their impact on the severity of chronic hepatitis C (CHC). Methodology: Cases group (I) comprised 110 treatment naïve CHC Egyptian patients (78 Males and 32 Females, mean age = 40.7 ± 11.8 years) who underwent routine laboratory investigations. Assessment of plasma level of IL-18 was done by enzyme-linked immunosorbent assay (ELISA), detection of IL-18 gene polymorphisms at positions -607 C/A and -137 G/C by polymerase chain reaction sequence specific polymorphism (PCR-SSP) analysis and Liver biopsy with METAVIR scoring were done. The control group (II) comprised 90 healthy participants. Results: Plasma levels of IL-18 were significantly higher in cases than the control group. We found a statistically highly significant (p < 0.001) positive correlation between IL-18 plasma level and both METAVIR necro-inflammatory grade and fibrosis stage. The A/A allele at -607 position was significantly more frequent (p < 0.05) in patients with F ≤ 1. Conclusions: Higher IL-18 plasma levels are found in CHC patients and positively correlate with the severity of liver disease. The presence of A/A allele at -607 position of IL-18 gene promoter is associated with milder liver disease.

Association of Polymorphism in Survivin gene and the risk of Liver Cancer resulting from Hepatitis C Virus among Egyptian patients

2021 ◽  
Vol 21 ◽  
Author(s):  
Amal A. Mohamed ◽  
Aymen S. Yassin ◽  
Basma S. Gomaa ◽  
Hossam Darwish ◽  
Rasha S. Mohamed ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Hepatitis C ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Hepatitis C Infection ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Survivin Gene ◽  
Increased Risk ◽  
Significant Difference

Background: This study aims to investigate the relation between Survivin gene polymorphisms, and the risk of Hepatocellular carcinoma (HCC) resulting from hepatitis C infection among Egyptian population. Methods: This prospective study was conducted on 164 patients, 57 patients were diagnosed with hepatitis C, where other 57 were diagnosed with HCC in addition to 50 healthy volunteers as controls. Genotyping for Survivin rs1042489 and rs8073069 single nucleotide polymorphisms was carried out by the allelic discrimination Real-Time Polymerase Chain Reaction Single Nucleotide Polymorphisms genotyping technology. Results: The results of Survivin rs1042489 polymorphism, revealed that the TC and CC genotypes were significantly different between hepatocellular carcinoma patients (OR=15.5, 95%CI: 3.299-72.825,P<0.001), and controls (OR=44, 95%CI: 8.025-241.254, P<0.001). Furthermore, CC genotype was significantly different between cirrhotic and hepatocellular carcinoma patients (OR=19.2, 95%CI: 3.097-119.049, P=0.002). Moreover the TC genotype shows a significant different between controls and cirrhotic patients (OR=5.5, 95%CI: 2.111-14.328, P<0.001). However when comparing TT genotypes, CC+TC genotypes results showed a significant association with increasing the risk of cirrhosis and hepatocellular carcinoma (OR=4.812, 95%CI: 1.893-12.233, P=0.001), (OR=21.607, 95%CI: 4.738-98.532, P<0.01), respectively. On the other hand, there was no significant difference among all studied groups for all genotypes, regarding Survivin rs8073069. Also CC+GC genotype showed no significant association with increased the risk of hepatocellular carcinoma (P=0.999) compared with the GG genotypes. Conclusion: The study indicates that functional Survivin rs1042489 polymorphism may contribute to the risk of hepatocellular carcinoma while Survivin rs8073069 polymorphism has no significant association with increased risk of hepatocellular carcinoma among the studied groups.

Genetic risk factors for hepatocellular carcinoma associated with hepatitis C in Yakut males

2020 ◽  
pp. 14-19
Author(s):  
S.I. Malov ◽  
◽  
S.S. Sleptsova ◽  
L.A. Stepanenko ◽  
O.B. Ogarkov ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Cirrhosis ◽  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Single Nucleotide Polymorphisms ◽  
X Chromosome ◽  
Recessive Trait ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Chronic Hcv

Objective. To analyze associations between single-nucleotide polymorphisms (SNPs) in some genes located on the X chromosome and risks for hepatocellular carcinoma (HCC) in Yakut males with chronic hepatitis C infection (HCV). Patients and methods. We examined 140 Yakut males with chronic HCV in the stage of liver cirrhosis formation. In 41 of them, chronic hepatitis was complicated by HCC. All patients were tested for SNPs in the genes located on the X chromosome, including TLR7 (rs179008); TLR7 (rs179009); TLR8 (rs3764879); TLR8 (rs3764880); IRAK1 (rs3027898); MECP2 (rs1734791); TAB3 (rs1000129516); ELK1 (rs1000619237); GPC3 (rs2267531). Results. We found no significant differences in the frequencies of specific alleles of genes involved in TLR7 signaling between patients with chronic HCV and patients with HCC. However, there were significant differences in the distribution of variable sites in the rs2267531 locus of the GPC3 gene. The GPC3 gene encodes glypican-3 known as a regulator of cell proliferation and a highly specific HCC tumor marker. GPC3 mutations are inherited as an X-linked recessive trait and only males manifest this condition. The number of C-allele carriers among HCC patients was 1.5 higher than that among HCV patients without HCC. We found that chronic HCV patients carrying the C-allele are 2.7 times more likely to develop HCC than G-allele carriers (p = 0.0095). Conclusion. We found a SNP in the GPC3 gene, which C-allele was associated with an increased risk of HCC in Yakut males with chronic HCV. This genetic marker can be used for personalized prognosis of the disease course and as a predictor of HCC development in patients with liver cirrhosis. Key words: hepatitis C, hepatocellular carcinoma, glypican-3, single-nucleotide polymorphisms, Toll-like receptors, X chromosome, Yakuts

scholarly journals Association between single nucleotide polymorphisms rs72525532, rs45596738, rs148759216, rs188133936, and rs114627122 of APOA5 gene in children and adolescents with metabolic syndrome

2019 ◽  
Vol 21 (4) ◽  
pp. 175-180
Author(s):  
Samaneh Salehi ◽  
Modjtaba Emadi-Baygi ◽  
Parvaneh Nikpour ◽  
Roya Kelishadi
Keyword(s):  
Metabolic Syndrome ◽  
Single Nucleotide Polymorphisms ◽  
Children And Adolescents ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Normal Children ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference ◽  
Apoa5 Gene

Background and aims: The APOA5 gene is one of the genes involved in metabolic syndrome (MetS), as a constellation of several cardiovascular disease (CVD) risk factors. The present study evaluated the possible associations between five single nucleotide polymorphisms (SNPs) in the microRNA target site (miR-TS-SNPs) of the APOA5 gene with MetS. Methods: This case-control study included 57 MetS cases, along with 59 normal children and adolescents aged 9-18 years. All miR-TSSNPs rs188133936, rs72525532, rs45596738, rs148759216, and rs114627122 were genotyped by polymerase chain reaction-sequencing. Independent t-test, as well as the chi-square test and logistic regression analysis was used to determine the association of SNPs with MetS risk and its clinical components. Results: The mean (SD) age of MetS participants and controls was 12.35 (0.25) and 13.39 (0.38) years, respectively. Although no nucleotide changes were present in rs188133936, rs45596738, rs148759216, and rs114627122, a greater frequency of A insertion was detected in rs72525532 in MetS cases compared with the control group (P=0.012). This variant showed a significant difference in triglycerides (TG) and high-density lipoprotein cholesterol (HDL) levels between different genotype groups (P<0.0001 and P=0.05, respectively) in controls. Furthermore, AA insertion genotype was correlated with an increased risk of MetS (Odds ratio [95% CI] = 8.12 [0.966-68.27], P=0.05). Conclusion: This study was the first to investigate the association between rs188133936, rs45596738, rs148759216, rs76463524, and rs72525532 variants of the APOA5 gene and MetS. Our findings reveal that rs72525532 might have an impact on TG, HDL levels, and the risk of MetS

Erythropoietin Gene Polymorphism rs551238 is Associated with a Reduced Susceptibility to Brain Injury in Preterm Infants

2019 ◽  
Vol 16 (4) ◽  
pp. 335-339
Author(s):  
Ji Xu ◽  
Huitao Li ◽  
Jinjie Huang ◽  
Zhangxing Wang ◽  
Yun Li ◽  
...  
Keyword(s):  
Brain Injury ◽  
Single Nucleotide Polymorphisms ◽  
Preterm Infants ◽  
Control Group ◽  
Blood Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Potential Marker ◽  
Increased Risk ◽  
Significant Difference

Background: Single Nucleotide Polymorphisms (SNPs) in the Erythropoietin (EPO) promoter region have been shown to influence EPO protein expression, and high blood levels of EPO are associated with an increased risk of brain injury in very preterm infants. Here, we investigated the genotype distributions and association of three EPO gene polymorphisms (rs1617640, rs551238, and rs507392) with the risk of brain injury in preterm infants. Methods: 304 preterm infants with a gestational age of 28 to 34 weeks were enrolled in this study. Brain injury was evaluated by brain ultrasound and MRI examination. EPO gene Single- Nucleotide Polymorphisms (SNPs) were genotyped by the Agena MassARRAY system, and their association with brain injury susceptibility in preterm infants was analyzed. Results: EPO polymorphism rs551238 showed a significant difference in the genotypic distributions between the brain injury group and the control group, and was significantly correlated with reduced susceptibility to brain injury in preterm infants according to the results obtained from both the additive model (OR = 0.520, 95% CI: 0.339-0.799, P = 0.003) and the dominant model (OR = 0.523, 95% CI: 0.332-0.853, P = 0.009). EPO polymorphisms rs1617640 and rs507392 did not meet the Hardy-Weinberg equilibrium in the study population (P < 0.05) and were, thus, not subjected to further analysis for their impacts on brain injuries. Conclusion: The “C” allele of rs551238 was correlated with a reduced risk of brain injury in preterm infants which may serve as a potential marker for brain injury prediction in preterm infants.

scholarly journals CD44, IL-33, and ST2 Gene Polymorphisms on Hepatocellular Carcinoma Susceptibility in the Chinese Population

2020 ◽  
Vol 2020 ◽  
pp. 1-11
Author(s):  
Xiaolan Pan ◽  
Meiqin Li ◽  
Lei Huang ◽  
Dan Mo ◽  
Yihua Liang ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Chinese Population ◽  
Haplotype Analysis ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Cancer Stemness ◽  
Single Nucleotide ◽  
The Relationship

The interleukin- (IL-) 33/ST2 axis plays a pivotal role in tumorigenesis through influencing cancer stemness and other mechanisms. CD44 is one of the critical markers of hepatocellular carcinoma (HCC) among the cancer stem cells (CSCs). There is still a lack of CD44 gene single-nucleotide polymorphisms (SNPs) combined with IL-33/ST2 pathway single-nucleotide polymorphisms in HCC susceptibility analysis literature, although CD44 and IL-33/ST2 have been reported separately in human cancers. This study is aimed at investigating the relationship between CD44, IL-33, and ST2 SNPs and HCC susceptibility and clinicopathological features. We analyzed 565 HCC patients and 561 healthy controls in the Chinese population. The genes for CD44rs187115A>G, IL-33 rs1929992A>G, and ST2 rs3821204G>C were typed using the SNaPshot method. We found that the distribution frequencies of CD44 and ST2 alleles and genotypes in both the HCC case group and the control group were statistically significant ( p < 0.05 ). The results showed that individuals carrying at least one G allele of the CD44 rs187115 gene were at a higher risk than the AA genotype carriers ( p = 0.007 , odds   ratio   OR = 1.429 , 95% confidence interval (CI): 1.102–1.854). Similarly, individuals with at least one C allele of ST2 rs3821204 had a higher risk of HCC than those with GG genes ( p ≤ 0.001 , OR = 1.647 , 95% CI: 1.296-2.093). Combining the haplotype analysis of the 3 loci suggested that CD44 rs187115, IL-33 rs1929992, and ST2 rs3821204 are associated with the risk of HCC and could potentially serve as useful genetic markers for HCC in some populations of China.

Sign in / Sign up

Export Citation Format

Share Document