scholarly journals MDM2 (T309G) Gene Polymorphism Determines the Susceptibility of Hepatocellular Carcinoma in Bangladesh

2021 ◽  
Vol 6 (3) ◽  
pp. 213-217
Author(s):  
Md. Bayejid Hosen ◽  
Narwana Khaleque ◽  
Sajib Chakraborty ◽  
Mamun Al Mahtab ◽  
Yearul Kabir
Keyword(s):  
Hepatocellular Carcinoma ◽  
Gene Polymorphism ◽  
Reference Group ◽  
Strong Association ◽  
Tumor Formation ◽  
Control Group ◽  
Mdm2 Gene ◽  
Pcr Rflp ◽  
Cancer Types ◽  
Bangladeshi Population

Background: Hepatocellular carcinoma (HCC) is one of the fatal cancer types worldwide, and a variety of genetic factors are considered to be associated with this incidence. MDM2 gene plays a pivotal role in various pathways, which are essential to combat tumor formation. The study aimed to find out the associations of MDM2 (T309G, rs2279744) gene polymorphism with the development of HCC in the Bangladeshi population. Methods: A case-control study on 100 HCC patients and 110 control subjects was conducted. The genotyping of the MDM2 (T309G) gene was done using PCR-RFLP methods. Results: The percentage of TT and GG genotypes were significantly different (p<0.01) among the study subjects. There were four genotyping groups, while the subjects with TT genotypes were considered the reference group. Patients with GG genotypes were at high risk of developing HCC (OR, 3.6; 95 % CI, 1.64–7.80; p<0.01) compared to the control. On the other hand, the association of TG genotypes with HCC was not statistically significant (OR, 1.8; 95 % CI, 0.91–3.40, p>0.05). In addition, patients having either GG or TG genotypes showed higher risk for HCC compared to control group (OR = 2.20; 95% CI = 1.21–4.14; P < 0.05). Conclusion: Our study suggested that the MDM2 gene may have a strong association with the development of HCC, and the GG allele could serve as an essential determinant to identify the higher risk of HCC in the Bangladeshi population.

scholarly journals Vitamin D receptor gene polymorphism and hepatocellular carcinoma in chronic hepatitis C patients

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hala Mosaad ◽  
Emad A. Emam ◽  
Emad F. Hamed ◽  
Ezzat A. El Demerdash ◽  
Samia Hussein
Keyword(s):  
Hepatocellular Carcinoma ◽  
Vitamin D ◽  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Gene Polymorphism ◽  
Chronic Hepatitis C ◽  
Control Group ◽  
Vdr Gene ◽  
Group A ◽  
Chronic Hepatitis C Patients

Abstract Background Hepatocellular carcinoma (HCC) is a prevalent malignancy worldwide. Vitamin D receptor (VDR) gene polymorphisms were linked to different cancers. This study was carried out to assess the possible relation between VDR gene polymorphism and the occurrence of HCC in chronic hepatitis C patients. This study included 102 subjects classified into three groups. Group A included 34 healthy subjects as control. Group B included 34 chronic hepatitis C patients with HCC. Group C included 34 chronic hepatitis C patients without HCC. Estimation of Apa-1 VDR gene polymorphism was performed by restriction fragment length polymorphism-Polymerase chain reaction (RFLP-PCR). Results In HCC group, C allele was more frequent than A allele (80.88% and 19.12%), respectively. In chronic hepatitis group, C allele was more frequent than A allele (64.71% and 35.29%), respectively. In control group, A allele was more frequent than C allele (73.53% and 26.47%), respectively. Genotype CC + CA was dominant in HCC group (91.18%) and chronic hepatitis group (79.41%). In the control group, the dominant genotype was AA (58.82%). Moreover, there was a significant relation between Apa-1 VDR genotype CC and tumor size. Conclusions There is an association between VDR Apa-1 polymorphism and the occurrence of HCC in chronic hepatitis C patients.

scholarly journals Loci C677T and A1298C of the methylenetetrahydrofolate reductase gene and the risk of neural tube defects in the Kyrgyz population

2019 ◽  
pp. 3-8
Author(s):  
Н.М. Алдашева ◽  
Э.М. Мамбетсадыкова ◽  
Э.Т. Талайбекова ◽  
С.Дж. Боконбаева ◽  
Х.М. Сушанло ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Methylenetetrahydrofolate Reductase ◽  
Strong Association ◽  
Mthfr Gene ◽  
Control Group ◽  
Increased Risk ◽  
Pcr Rflp ◽  
1298C Allele ◽  
Kyrgyz Population

Цель. Изучить ассоциацию полиморфных локусов С677Т и А1298С гена MTHFR с развитием дефектов нервной трубки (ДНТ) у детей киргизской национальности. Методы. В исследование включены 76 детей и их матери. В основную группу вошли 30 детей с пороками невральной трубки, чаще всего в виде изолированной спиномозговой грыжи или в сочетании с другими врожденными пороками развития, а также их матери. 46 детей без ДНТ и их матери составили контрольную группу. Идентификация генотипов полиморфных локусов С677Т и А1298С гена MTHFR проводилась методом анализа полиморфизма длин рестрикционных фрагментов (ПДРФ). Результаты. При анализе распределения генотипов и аллелей полиморфизма А1298С гена MTHFR выявлено, что среди детей с ДНТ статистически значимо чаще встречались гетерозиготный генотип А1298С (χ²=9,67; р=0,0079) и аллель 1298С (χ²=4,17; р=0,04). При наличии генотипа А1298С риск развития ДНТ повышается в 4,71 раза (OR=4,71; p=0,0079), а при наличии аллеля 1298С - в 2,2 раза (OR=2,20; p=0,04). Полиморфный локус С677Т гена MTHFR самостоятельно не был ассоциирован с ДНТ, однако гетерозиготность по двум полиморфным аллелям ассоциирована с ДНТ (χ²=5,60; p=0,018) и существенно повышает относительный риск развития ДНТ (OR=9,75; p=0,018). Заключение. У детей киргизской национальности полиморфный локус А1298С гена MTHFR ассоциирован с развитием дефекта нервной трубки. Комбинированная гетерозиготность (С677Т/А1298С) по обоим полиморфизмам является дополнительным отягощающим фактором. Aim. The aim of the study was to investigated whether polymorphisms С677Т and А1298С of the MTHFR gene are associated with neural tube defects (NTDs) in the Kyrgyz population. Methods. The study included 76 children and their mothers. The study group included 30 children and their mothers, where the child had a neural tube defect, most commonly in the form of an isolated spina bifida or in combination with congenital anomalies. Control group - 46 children without congenital malformations. С677Т and А1298С polymorphisms analysis in the MTHFR gene were performed by PCR-RFLP method. Results. The frequency of the heterozygous A1298C genotype (χ²=9,67; p=0,0079) and 1298C allele (χ²=4,10; p=0,041) of the MTHFR gene was higher in cases than in controls. Child with heterozygous A1298C genotype had a 4,71- fold (OR=4,71; p=0,0079) higher risk of NTDs when compared with those who had the AA genotype. Child carriers of the 1298C allele had a 2,2-fold higher risk of NTDs (OR=2,20; p=0,041). С677Т/А1298С genotypes are more frequent among cases than controls (χ²=5,00; p=0,025). We showed that the combinations of С677Т/А1298С is strong association with NTDs (χ²=5,60; p=0,018). Subjects carriers of the combinations of С677Т/А1298С genotypes had a significant 9,7-fold higher risk of NTDs (OR=9,75; p=0,018). Conclusion. There is significant association between С677Т and А1298С polymorphism in MTHFR gene and neural tube defects in the Kyrgyz population. An increased risk of neural tube defects associated with heterozygous A1298C genotype, 1298C allele and combinations of С677Т/А1298С in MTHFR gene.

scholarly journals SNP G-1082A IL-10 GENE: ALLELE AND GENOTYPE DISTRIBUTION OF PERIODONTITIS PATIENT IN YOGYAKARTA

2016 ◽  
Vol 19 (2) ◽  
pp. 117-120
Author(s):  
Rezmelia Sari ◽  
Prayitno Prayitno ◽  
Alya Nur Fadhilah
Keyword(s):  
Gene Polymorphism ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Inclusion Criteria ◽  
Cotton Swab ◽  
Periodontitis Patient ◽  
Pcr Rflp ◽  
Control Research

Periodontitis is multifactorial inflamation process and related to disproportion of cytokine. IL-10 is a dominant noninflammatory cytokines that related to gene polymorphism. Polymorphism G-1082A IL-10 genes has been reported to increase the risk of periodontitis occurs in Italian populations, apart from different result found in Brazilian. The purpose of this research was to determine the polymorphism G-1082A IL-10 in periodontitis patients in Indonesia, especially among Yogyakarta’s Javanese. This is a case-control research with subjects according to the inclusion criteria. DNA was taken by cotton swab from the epithelial cells of buccal mucosa, and was isolated using a PrestoTM (GeneAid) kit. Genotyping analysis by using the PCR RFLP technique and descriptive results were presented. The result showed that A allele frequency is 100% and no G allele was found. AA genotype in case group has lower frequency than in control group and vice versa. From this research, it was concluded that A allele was dominant in Yogyakarta’s Javanese, and AA genotype frequency is lower in individual with periodontitis.

scholarly journals Association of VEGF +405 C > G (rs2010963) polymorphism with susceptibility of metabolic syndrome: Cardio-metabolic risk factors and serum Matrix Metaloproteinase-3 concentrations

2021 ◽  
Vol 19 (3) ◽  
pp. 263-271
Author(s):  
Leila Nikniaz ◽  
Mahdieh Abbasalizad-Farhangi
Keyword(s):  
Risk Factors ◽  
Metabolic Syndrome ◽  
Gene Polymorphism ◽  
Density Lipoprotein ◽  
Serum Levels ◽  
Control Group ◽  
Vegf Gene ◽  
Pcr Rflp ◽  
Elisa Technique ◽  
Vegf Gene Polymorphism

BACKGROUND: In the present study we investigated the role of +405 VEGF gene polymorphism in the pathogenesis of metabolic syndrome and to explore its association with several biochemical risk factors. MATERIALS AND METHODS: VEGF +405 single nucleotide polymorphism were genotyped in 150 patients with metabolic syndrome and 50 healthy individuals using the PCR-RFLP method. Serum levels of biochemical variables were assessed by commercial ELISA technique. RESULTS: GC genotype was more prevalent among patients with metabolic syndrome. In GC genotype, patients with metabolic syndrome had higher waist to hip ratio, WHR, triglyceride, and lower high density lipoprotein and alanine aminotransferase concentrations compared with the control group. CONCLUSIONS: The current study demonstrated that +405 VEGF gene polymorphism was a potent predictor of metabolic abnormalities in patients with metabolic syndrome. Further studies with larger sample size are needed to clarify these associations properly.

Association of 5-lipoxygenase activating protein gene polymorphism and stroke: A study from north east of Iran

2019 ◽  
Author(s):  
Marjan Erfani ◽  
Ariane Sadr-Nabavi ◽  
Reza Jafarzadeh-Esfehani ◽  
Mohammad Shariati ◽  
Leila Ghanbari-Garekani ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Gene Polymorphism ◽  
Promoter Polymorphism ◽  
Control Group ◽  
Case Group ◽  
North East ◽  
Pcr Rflp ◽  
East Of Iran ◽  
Magnetic Resonance Imaging Mri ◽  
Control Study

Background: Stroke is a multifactorial disorder and a major cause of morbidity and mortality around the world. There are growing numbers of candidate gene pathways which are thought to be associated with stroke. Genes involved in lipid metabolism are important issues in stroke studies. Studying different polymorphisms in these genes are becoming an interest for researchers. 5-lipoxygenase activating protein (ALOX5AP) is one of these genes. Different studies have provided different relations between ALOX5AP promoter polymorphism (rs17222919) and stroke. In the present study, we have evaluated this gene polymorphism in a population in north east of Iran. Methods: This case-control study took place in Ghaem Hospital, Mashhad, Iran. Patients with computed tomography (CT) or magnetic resonance imaging (MRI) confirmation for ischemic stroke were enrolled in this study and considered as case group. Healthy persons without ischemic stroke were control group. During 1-year period of this study, ALOX5AP gene polymorphism in 200 healthy patients (control group) as well as 228 patients with stroke (case group) was evaluated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: All of 428 persons (228 cases and 200 healthy controls) enrolled in this study. The genotype and allele frequency was significantly different between both groups (P = 0.001 and P = 0.003, respectively). A total number of 54 patients had G allele in case group in contrast to 27 ones in control group. Also, 174 patients in case group had T allele and 173 persons had this allele in control group. In compression of TT genotype, the risk of developing stroke in GG and TG genotypes increased by 3.998 and 1.643, respectively. Also the risk of ischemic stroke with G allele would increase by 2.128. Conclusion: According to our results, ALOX5AP promoter polymorphism (rs17222919) is related to increased ischemic stroke in Iranian population.

HLA-DQ gene polymorphisms are associated with hepatitis B virus in patients with hepatocellular carcinoma progression

2020 ◽  
Vol 16 ◽  
Author(s):  
Amal A. Mohamed ◽  
Adel Abdel Hady ◽  
Somia Saad ◽  
Shrouk Mausa ◽  
Omnia Tantawi ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Gene Polymorphisms ◽  
Strong Association ◽  
Control Group ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Hla Dq ◽  
B Virus

Background & Aims: The main cause of chronic hepatitis is Hepatitis B virus (HBV). The progression and development of hepatitis B related diseases are included liver cirrhosis (LC) and hepatocellular carcinoma (HCC). Human leukocyte antigen-(HLA) DQ polymorphism has been observed in other recent studies dealing with the association between HBV and liver disease. Our study of Egyptian population was introduced to assess the strong association between HLA-DQ polymorphism and HBV infection in addition to the progression of HCC. The aim of this work was to estimate HLA-DQ gene polymorphisms in HBV and HCC. Methods: HLA-DQ genotype polymorphism assayed by using the ABI Taq Man allelic discrimination assay in different groups under this study. According to the relevant HLA Class II SNP literature, one single nucleotide polymorphism (SNPs) was selected as candidate sites; it is an HLA-DQ, which showed minor allele frequency AA, GA, and GG. Results: We performed haplotype analysis to all subjects, the most frequent AA haplotype in HCC cases (18%) in comparison with HBV and healthy individuals (3%). The haplotype GA was more frequent in HCC group and slightly frequency in LC related to HBV only cases in comparison with the control group. In contrast, the GG haplotype recorded less frequently in HCC individuals, but the HBV and LC groups showed more frequency in comparison with HCC group. There is a correlation between AFP serum elevated levels of most frequency in GA and AA polymorphism for HCC cases. Conclusion: We found AA and GA haplotype were significantly most frequent in HCC. Our findings HLA-DQ AA and GG polymorphism might serve as a novel potential predictive marker for HCC and may function in tumorigenesis of HBV.

Polymorphism of the ADRB2 gene as a predictor of preterm birth

2021 ◽  
Vol 20 (2) ◽  
pp. 5-12
Author(s):  
G.F. Proklova ◽  
◽  
E.A. Sokova ◽  
R.E. Kazakov ◽  
R.A. Chilova ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Gene Polymorphism ◽  
Pregnant Women ◽  
Control Group ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Adrb2 Gene

Tocolytic therapy with the use of β2-agonist hexoprenaline is used to prolong pregnancy. Polymorphisms of the ADRB2 gene can affect the efficacy and safety of this drug, including missense mutations associated with the Gly16Arg and Gln27Glu substitutions. Objective. To study the role of the ADRB2 gene polymorphism in preterm birth, as well as the efficiency and safety of tocolytic therapy with hexoprenaline. Patients and methods. 120 pregnant women were examined. The main group included 60 pregnant women who were at risk of preterm birth and to whom intravenous tocolytic therapy with hexoprenaline was performed. In the control group (n = 60), there was a woman whose pregnancy was not accompanied by the threat of preterm birth, and delivery itself was emergency and spontaneous. The identification of the Gly16Arg and Gln27Glu polymorphisms of the ADRB2 gene was carried out by the PCR-RFLP method. Results. In pregnant women with the threat of premature labor, the 16Arg allele (p = 0.028) was less common, and the 16Gly/Gly genotype (p = 0.027) of the ADRB2 gene was reliably more common. Adverse reactions to hexoprenaline occured in 53% of pregnant women: in 47%, it was tachycardia, in 6% – headache. Their incidence was not associated with the ADRB2 gene polymorphism. Conclusion. The effectiveness of hexoprenaline is lower in the carriers of genotypes indicating high or low expression of β2-adrenoreceptors. Key words: hexoprenaline, genotyping, single-nucleotide polymorphisms, preterm birth, tocolytic therapy, ADRB2

scholarly journals Association of TNFRII polymorphisms and IL-37 in rheumatoid arthritis Iraqi patients

2021 ◽  
Vol 4 (1) ◽  
pp. 30-35
Author(s):  
Wasnaa J. Mohammad ◽  
Noor Alhuda Kh. Ibrahim ◽  
Shahad F . Obed ◽  
Shahad F . Obed ◽  
Mohammed Sh. Jebur
Keyword(s):  
Rheumatoid Arthritis ◽  
Gene Polymorphism ◽  
Control Group ◽  
Disease Development ◽  
Healthy Individuals ◽  
Pcr Rflp ◽  
Elisa Technique

Fifty RA patients and 50 healthy individuals have been participated in this study. 196 M/R polymorphism of TNFRII gene determined by PCR-RFLP, IL-37 level was measured by ELISA technique, also RF, ACCP, CRP measured by ELISA technique. Our study shows an increase in IL-37 levels in patients was suffered from rheumatoid arthritis relative to control group. (M=101.31+10.41) That shows major differences between patients and controls (p<0.01) and increasing level of IL-37 correlate significantly with increasing level of CRP (p<0.05). The frequencies of TNFRII gene polymorphism were significantly correlate with the IL-37 level (p<0.01) in RA patients compared with control group. In conclusion, IL-37 increased in RA patients associated with disease development, also significantly associated with TNFRII polymorphism.

scholarly journals The role of IL-4 gene polymorphism in HCV-related hepatocellular carcinoma in Egyptian patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mohy-Eldin Abd-Elfattah ◽  
Mary Naguib ◽  
Mohammed Elkheer ◽  
Eman Abdelsameea ◽  
Ali Nada
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Cirrhosis ◽  
Gene Polymorphism ◽  
Group Versus ◽  
Control Group ◽  
Homozygous Genotype ◽  
Significant Difference ◽  
Egyptian Patients ◽  
Healthy Control

Abstract Background Interleukin-4 (IL-4), a pleiotropic anti-inflammatory cytokine, is produced mainly by activated T helper 2 (Th2). Hepatocellular carcinoma (HCC) is a typical inflammation-related cancer. Alterations influencing IL-4 expression may disturb immune response and may be associated with HCC risk. We aimed to verify role of IL4 gene polymorphism (IL-4-589C/T (rs2243250)) in HCV-related hepatocellular carcinoma in Egyptian patients. IL-4-589C/T (rs2243250) polymorphism was examined in 50 patients with HCC on top of HCV, 40 patients with HCV-induced liver cirrhosis, and 30 healthy controls using the polymerase chain reaction- restriction fragment length polymorphism method. Results Overall IL-4 gene polymorphism (IL-4-589C/T (rs2243250)) showed significant difference between hepatocellular carcinoma group versus liver cirrhosis and healthy control groups. TT homozygous genotype was more prevalent in HCC group (24%) versus (5%) in liver cirrhosis and (3.3%) in control. TT homozygous genotype had 10 times more risk of hepatocellular carcinoma versus healthy control group and 6.33 times more risk versus cirrhotic patients group (p value = 0.018 and 0.016 respectively). Conclusion IL-4-589C/T (rs2243250) polymorphism, TT homozygous genetic model, may be a risk factor in HCV-related HCC in Egyptian patients.

Assessment of miR-212 and Other Biomarkers in the Diagnosis and Treatment of HBV-infection-related Liver Diseases

2019 ◽  
Vol 20 (10) ◽  
pp. 785-798 ◽  
Author(s):  
Yigan Zhang ◽  
Huaze Xi ◽  
Xin Nie ◽  
Peng Zhang ◽  
Ning Lan ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Chronic Hepatitis ◽  
Liver Cancer ◽  
Hepatitis B ◽  
Chronic Hepatitis B ◽  
Liver Diseases ◽  
Meld Score ◽  
Hbv Infection ◽  
Expression Level ◽  
Control Group

Objective: Our study aims to detect the sensitivity of the new biomarker miR-212 existing in serum exosomes along with other hepatocellular carcinoma biomarkers such as AFP (alpha-fetoprotein), CA125 (carbohydrate antigen-ca125), and Hbx protein in the diagnosis of HBV-related liver diseases. We also aim to study the roles of these biomarkers in the progression of chronic hepatitis B and provide scientific data to show the clinical value of these biomarkers. Methods: We selected 200 patients with HBV-infection (58 cases of chronic hepatitis B, 47 cases of hepatocellular carcinoma, 30 cases of compensatory phase cirrhosis, and 65 cases of decompensatory phase cirrhosis), 31 patients with primary liver cancer without HBV infection, and 70 healthy individuals as the control group. The expression level of serum AFP and CA125 was detected with electrochemiluminescence immunoassay. The expression level of the Hbx protein was detected with ELISA. Meanwhile, the expression level of miR-212 in serum was analyzed with RT-qPCR. We collected patients’ clinical information following the Child-Pugh classification and MELD score criterion, and statistical analysis was made between the expression level of miR-212 and the collected clinical indexes. Lastly, we predicted the target genes of the miR-212 and its functions using bioinformatics methods such as cluster analysis and survival prediction. Results: Compared to the control group, the expression level of miR-212 in HBV infected patients was remarkably increased (P<0.05), especially between the HBV-infection Hepatocellular carcinoma group and the non-HBVinfection liver cancer group (P<0.05). The expression of miR-212 was increased in patients’ Child-Pugh classification, MELD score, and TNM staging. Moreover, the sensitivity and specificity of miR-212 were superior to AFP, CA125, and HBx protein. Conclusion: There is a linear relationship between disease progression and expression level of miR-212 in the serum of HBV infected patients. This demonstrates that miR-212 plays a significant role in liver diseases. miR-212 is expected to be a new biomarker used for the diagnosis and assessment of patients with HBV-infection-related liver diseases.

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