Egyptian Journal of Medical Human Genetics最新文献

{"title":"Exploring the potential of phytoconstituents from Phaseolus vulgaris L against C-X-C motif chemokine receptor 4 (CXCR4): a bioinformatic and molecular dynamic simulations approach","authors":"Cesarius Singgih Wahono, Mokhamad Fahmi Rizki Syaban, Mirza Zaka Pratama, Perdana Aditya Rahman, Nabila Erina Erwan","doi":"10.1186/s43042-024-00510-9","DOIUrl":"https://doi.org/10.1186/s43042-024-00510-9","url":null,"abstract":"The CXCR4 chemokine receptor is a G protein-coupled receptor that plays a role in many physiological processes and diseases, such as cancer metastasis, HIV infection, and immune response. Because of this, it may be possible to target it therapeutically. In addition, the active ingredient of Phaseolus vulgaris L (PVL) has been reported to have anti-inflammatory, antioxidant, and anticancer properties. Novel CXCR4 antagonists from natural resources can be a promising drug development product using a computational approach. This study aims to explore the active compound in PVL that has the responsibility to inhibit CXCR4 using molecular docking and dynamics simulation. Pharmacokinetic analysis were performed using the pkCSM, OSIRIS for toxicity risk analysis, and the PerMM for membrane permeability assessment. Molecular docking was performed using PyRx software to determine the interaction between the CXCR4 target protein from the PDB database and the active component of PVL from the PubChem database. A molecular dynamics (MD) simulation was performed to determine the stability of the interaction using the WEBGRO Macromolecular Simulations online server. The analysis were performed by comparing the results with plerixafor as a control ligand. The pharmacokinetic analysis of quercetin, kaempferol, myricetin, catechin, 3,4-dihydroxybenzoic acid, and daidzin in PVL showed that they met the drug-like criteria. These chemicals were expected to have medium-risk effects on mutagenesis and tumorigenesis, with the exception of catechin, which has no risk of toxicity, and daidzin, which has high-risk effects on mutagenesis and reproduction. Molecular docking identified that quercetin (− 6.6 kcal/mol), myricetin (− 6.6 kcal/mol), catechin (− 6.5 kcal/mol), and 3,4-dihydroxybenzoic acid (− 5.4 kcal/mol) bind to CXCR4 with the highest affinity compared to plerixafor (− 5.0 kcal/mol) and can bind to the same binding pocket with key residues Asp187, Asp97, and Glu288. The MD simulation analysis showed that quercetin has a similar stability interaction compared to the control. Considering the pharmacokinetic analysis, molecular docking, and MD simulations, quercetin, myricetin, and 3,4-dihydroxybenzoic acid have the potential to become CXCR4 agonists with their good oral bioavailability and safety properties for the novel drug candidates. Future studies are needed to consider the molecular docking result.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"100 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140594114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Turkish population-based screening for first identified changes of BRCA1 and BRCA2 genes in breast and/or ovarian cancer patients","authors":"Tuğba Semerci Sevimli, Murat Sevimli, Ayşe Esra Manguoğlu, Güven Lüleci","doi":"10.1186/s43042-024-00525-2","DOIUrl":"https://doi.org/10.1186/s43042-024-00525-2","url":null,"abstract":"It is known that BRCA1 and BRCA2 genes’ mutation carriers are predisposed to breast and ovarian cancers and other organ cancers such as prostate, colon and cervix. In the previous study performed at X University, all coding exons of both genes were screened by denaturing gradient gel electrophoresis (DGGE). In addition to various nonsense, missense mutations, polymorphisms and intronic region changes, seven novel missense mutations, including H513L, H816P and S1517Y in BRCA1 and S326R, G258P, E2903K and N2742S in BRCA2, had been identified. To determine whether these unclassified variants are pathogenic, DNA samples of 150 healthy individuals without a known cancer history in the family were screened in this study for these seven novel missense mutations. These DNA samples were recruited from archives of previous polymorphism studies. PCR performed DNA amplifications, and denaturing high-performance liquid chromatography (DHPLC) techniques did mutation screenings. Peak patterns suggestive of a change in DNA fragments were considered for sequencing analyses. Analyses revealed that none of the 150 DNA samples had any change in the seven screened fragments. As a result, it is assumed that these seven mutations might be novel pathogenic mutations described in the Turkish population. In conclusion, these carriers must be informed about the mutation and given appropriate genetic counseling by their physicians. In addition, genetic testing must be offered to high-risk individuals (men/women) in the family so that it would be possible for other family members to have genetic counseling and contribute to disease prevention. On the other hand, these findings would contribute to current literature with novel results and shed light on future research.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"298 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140594063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial intelligence-driven enhanced skin cancer diagnosis: leveraging convolutional neural networks with discrete wavelet transformation","authors":"S. P. Angelin Claret, Jose Prakash Dharmian, A. Muthu Manokar","doi":"10.1186/s43042-024-00522-5","DOIUrl":"https://doi.org/10.1186/s43042-024-00522-5","url":null,"abstract":"Artificial intelligence (AI) has shown great promise in the field of healthcare as a means of improving the diagnosis of skin cancer. The objective of this research is to enhance the precision and effectiveness of skin cancer identification by the incorporation of convolutional neural networks (CNNs) and discrete wavelet transformation (DWT). Making use of AI-driven techniques has the potential to completely transform the diagnosis process by providing quicker and more accurate evaluations of skin lesions. In an effort to improve dermatology and give physicians reliable resources for early and precise skin cancer diagnosis, this work explores the combination of CNNs with DWT. The accurate and timely classification of skin cancer lesions plays a crucial role in early diagnosis and effective treatment. In this, we propose a novel approach for skin cancer classification using discrete wavelet transformation (DWT). The DWT is employed to extract relevant features from skin lesion images, which are then used to train a classification model. The effectiveness of the suggested approach is assessed through the examination of a dataset of skin lesion images with known classes (malignant or benign). The outcomes of the experiment demonstrate that the suggested model successfully attained a classification result of sensitivity as 94% and specificity as 91% when compared with artificial neural network (ANN) and multilayer perceptron methods. The HAM 10000 dataset is employed to explore and evaluate the effectiveness of the proposed model, leading to improved accuracy compared to the existing machine learning algorithms in utilization. The results demonstrate the effectiveness of the DWT-based approach in accurately classifying skin cancer lesions, thus aiding in early detection and diagnosis.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"10 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140594086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The causal relationship between anxiety and tinnitus severity: a Mendelian randomization study","authors":"Lili Yang, Yueming Ding","doi":"10.1186/s43042-024-00520-7","DOIUrl":"https://doi.org/10.1186/s43042-024-00520-7","url":null,"abstract":"The link between anxiety and tinnitus severity has garnered significant scholarly interest, with numerous studies identifying a positive correlation. Despite this, the genetic basis of this relationship remains underexplored. Leveraging publicly accessible GWAS data, this study employs Mendelian randomization to elucidate the genetic causality between anxiety and tinnitus severity. This research analyzed single nucleotide polymorphisms (SNPs) related to anxiety and tinnitus severity from the UK Biobank, utilizing aggregated data from genome-wide association studies (GWAS). Instrumental variables linked to anxiety were meticulously selected. The study implemented several Mendelian randomization techniques, including “mr_ivw,” “mr_egger_regression,” “mr_weighted_median,” “mr_simple_mode,” and “mr_weighted_mode,” to assess the causal impact of anxiety on tinnitus risk through odds ratios (ORs). Sensitivity analyses, including MR-Egger and the leave-one-out method, were conducted to ensure result stability. The F-value was also calculated to ascertain the strength of the instrumental variables. Analysis identified five SNPs as instrumental variables. The calculated ORs and 95% confidence intervals from MR-Egger regression, weighted median, and inverse variance weighting showed no statistically significant causal relationship between anxiety and severe tinnitus, with all P-values exceeding 0.05. This lack of statistical significance, consistent across various methods, indicates no genetic causality between anxiety and tinnitus severity. Furthermore, no evidence of heterogeneity (P = 0.80) or horizontal pleiotropy (P = 0.31) was found, reinforcing the robustness of the instrumental variables (F > 10). Our Mendelian randomization analysis reveals no genetic causality between anxiety and tinnitus severity, suggesting the need for further research into the multifaceted etiology of tinnitus. ","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"2019 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140594052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The potential anticancer effect of bee venom in combination with sorafenib against HepG2 cell lines via induction of apoptosis and autophagy candidate genes","authors":"Sara A. Nusair, Gehan Galal, Sara M. Radwan","doi":"10.1186/s43042-024-00524-3","DOIUrl":"https://doi.org/10.1186/s43042-024-00524-3","url":null,"abstract":"Hepatocellular carcinoma (HCC) is a severe threat and a main reason for cancer-related deaths around the world. Drug resistance to sorafenib (Sorf), the effective HCC first-line therapy, is very common. A number of natural compounds, notably bee venom (BV), have been claimed to show a great impact against cancer when administered on its own or in conjunction with chemotherapy. Thus, this study aimed to investigate the anticancer effect of BV alone and/or combined with Sorf on HepG2 liver cancer cell lines. Both mRNA and protein expressions of Bax, Bcl-2 and Beclin-1 were investigated by quantitative real-time PCR (qPCR) and western blot respectively, to examine the apoptotic and autophagic regulatory effects of BV and Sorf single treatments plus BV/Sorf combination on HepG2 cell lines. Our findings showed that BV and Sorf had considerable dose-dependent anti-proliferative effects on HepG2 cells whether administered alone or in combination, with the greatest impact for the combined therapies. Single BV and Sorf treatments showed IC50 of 93.21 and 7.28 μg/ml respectively, while combined treatment showed IC50 of 6.73 μg/ml BV + 6.73 μg/ml Sorf. Moreover, both the pro-apoptotic gene Bax and the autophagy-related gene Beclin-1 showed significant up-regulation in their mRNA expression, while the anti-apoptotic Bcl-2 mRNA gene expression showed significant down-regulation after BV/Sorf treatment as compared to either BV or Sorf single treatment. These qPCR results were further confirmed by western blot. These findings indicate that BV synergistically potentiates the anticancer effect of Sorf on HepG2 cells through induction of apoptotic and autophagic machineries.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"9 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140593920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Four microRNA gene polymorphisms are associated with Iraqi patients with colorectal cancer","authors":"Zahraa Isam Jameel","doi":"10.1186/s43042-024-00521-6","DOIUrl":"https://doi.org/10.1186/s43042-024-00521-6","url":null,"abstract":"Colorectal cancer (CRC) is a major cause to global cancer-related mortality. The development of colorectal cancer is linked to hereditary variables that exhibit variability. The objective of this investigation was to assess the potential correlation between microRNA gene polymorphisms and colorectal cancer (CRC) throughout the Iraqi population. DNA samples were obtained from a cohort of 100 individuals diagnosed with the (CRC) disease, as well as 100 samples as control group. Four primers were designed to amplify four specific high-frequency variants found within microRNA molecules. These variants include Mir146a GC, Mir423 AC, Mir196a2, and Mir370. The genotyping of the PCR fragments was performed using the single-strand conformation polymorphism (SSCP) method, followed by direct sequencing of each genotype. Genotyping experiments confirmed the variability of four targeted variants, namely Mir146a GC, Mir 423 AC, Mir196a2, and Mir370 tend to exhibit a significant association with (CRC). Individuals with Mir146a: GC and Mir 423 AC genotype showed a possible association with the increased risk of (CRC), respectively (P = 0.001; OD 0.50; CI 95% 0.33–0.76; P = 0.002; OD 0.53; CI 95% 0.36–0.80). Individuals with Mir196a2: TT and Mir370 GG genotype exhibited a potential association with (CRC) (P = 0.017; OD 0.44; CI 95% 0.22–0.86; P ≤ 0.001; OD 0.24; CI 95% 0.11–0.50). The study reveals that single nucleotide polymorphisms (SNPs) in microRNA have a notable and distinct correlation with the heightened susceptibility to colorectal cancer (CRC).","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"17 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140593933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of single nucleotide polymorphism at BMP2 gene with iron deficiency status among anaemic patients in Hospital Universiti Sains Malaysia","authors":"Nur Ain Azman, Zefarina Zulkafli, Nur Salwani Bakar, Mat Ghani Siti Nor Assyuhada, Siti Nur Nabeela A’ifah Mohammad","doi":"10.1186/s43042-024-00511-8","DOIUrl":"https://doi.org/10.1186/s43042-024-00511-8","url":null,"abstract":"Iron deficiency contributes for over half of all anaemia cases, especially among women and children. Iron deficiency anaemia remains a serious public health concern worldwide. The aim of this study is to determine the association between the single nucleotide polymorphism rs235756 in the bone morphogenetic protein 2 (BMP2) gene and iron deficiency status. 104 total anaemic samples were selected from Hospital Universiti Sains Malaysia. ARMS-PCR was performed to genotype the rs235756 SNP in the 104 samples. The genotype distribution of BMP2 rs235756 showed that AG genotypes had the highest frequency 51(86.4%) followed by GG 6(10.2%) and AA 2(3.4%) in IDA group, whereas AG 42(93.3%), AA 2(4.4%) and GG 1(2.2%) were found in the other anaemia group. The minor allele frequency in BMP 2 rs235756 from this study (0.514) was not similar to the East Asian (EAS) population (0.135); however, the allelic frequency showed significant association between these two. The mean of total iron binding capacity level differed significantly between homozygous-dominant AA and AG + GG genotypes (P < 0.05) but no significant difference for the mean of haematological parameter, ferritin and serum iron. In future clinical settings, this finding can potentially be as a guide in the early prediction for IDA patients through the genetic testing.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"35 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140593941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of the application of an educational program based on the Theory of Planned Behavior (TPB) in adopting preventive behaviors among mothers who have thalassemia children in Iran: a randomized controlled trial","authors":"Iraj Zareban, Zahra Oudi-Akbari, Mohammad Saeed Jadgal, Hossein Ansari, Jamshid Hosseinzehi Zamani","doi":"10.1186/s43042-024-00487-5","DOIUrl":"https://doi.org/10.1186/s43042-024-00487-5","url":null,"abstract":"Thalassemia is one of the most common chronic diseases, which cause many problems for the patients, families, and health system. The aim of this study was to evaluate the effectiveness of the application of an educational program based on the Theory of Planned Behavior in adopting preventive behaviors from thalassemia. This randomized controlled trial study was associated with the participation of 160 mothers of children suffering from thalassemia major, who were divided into two groups including intervention and control. Demographic information, knowledge, and data related to the constructs of the Theory of Planned Behavior were collected. Data were analyzed using SPSS16 software and descriptive and analytical tests. The mean scores of perceived behavioral control, behavioral intention, and behavior in the intervention group in the pre-intervention phase were 9.83 ± 1.45, 9.1 ± 21.32, and 2.1 ± 18.42, respectively. The stage after the intervention was increased to 12.00 ± 0.00, 11.51 ± 0.59, and 5 ± 0.37.95, respectively, and the difference of the means in the two stages was significant (P value < 0.0001). But no significant change was observed in the control group (P value > 0.05). The results of the study showed the effect of the training intervention based on the Theory of Planned Behavior on the promotion of preventive behaviors in mothers of children suffering from thalassemia major.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"17 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140593928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ACE I/D polymorphism in cognitive impairment and depression among North Indian adults: a pilot study","authors":"Apoorva Sharma, Vineet Chaudhary, Mamta Kumari Thakur, Naorem Kiranmala Devi, Kallur Nava Saraswathy","doi":"10.1186/s43042-024-00515-4","DOIUrl":"https://doi.org/10.1186/s43042-024-00515-4","url":null,"abstract":"Cognitive impairment and depression are two common mental health conditions affecting millions worldwide. CI and depression both have complex etiology and multiple genetic and environmental factors are thought to play a role in their onset and progression. Further, CI and depression often occur as comorbidities, indicating an overlap in their etiologies. The likelihood of developing major depressive illness and CI, the prognosis in response to treatments, and the possibility of adverse reactions to antidepressant medicines are all significantly influenced by genetics. Looking at the limited literature on the role of ACE I/D polymorphism in CI and depression among Indian populations, the present population-based pilot study was conducted with the aim to understand the association of ACE I/D polymorphism with CI and depression among North Indian adults. The present study was conducted among 195 individuals aged 30 years and above. The results of the present study show that the distributions of some of the studied sociodemographic variables, viz., gender, educational status, and employment status, were significantly different between those with and without CI, where a higher percentage of females, nonliterate and unemployed participants were in CI group than in the without CI group (p value < 0.05). For cognitive impairment, none of the models showed a statistically significant association with ACE I/D genotypes or alleles. For depression, two of the models showed a statistically significant association with ACE I/D genotypes or alleles. The ID + DD (D allele) and DD genotypes of ACE I/D polymorphism, with II as a reference, were found to pose a significantly reduced risk for depression (p value < 0.05). In conclusion, the findings of this study suggest that the D allele of ACE I/D gene polymorphism poses a potentially reduced risk of depression among North Indian adults. In the case of cognitive impairment, the findings suggest that gender, educational status, and employment status may be important factors to consider when assessing the risk of cognitive impairment. However, more research is needed to better understand the complex interplay between sociodemographic and genetic factors and cognitive impairment and depression.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"178 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140593935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical impact of IDH1 mutations and MGMT methylation in adult glioblastoma","authors":"Magda Sayed Mahmoud, Mohamed K. Khalifa, Amira M. Nageeb, Lobna R. Ezz El-Arab, Manal El-Mahdy, Amal Ramadan, Maha Hashim, Noha M. Bakr, Menha Swellam","doi":"10.1186/s43042-024-00516-3","DOIUrl":"https://doi.org/10.1186/s43042-024-00516-3","url":null,"abstract":"Impact of Isocitrate dehydrogenase1 (IDH1) and O6-methylguanine-DNA methyltransferase (MGMT) in glioblastoma (GBM) have been of great interest due to their implications in prediction of prognosis of several types of cancer. It was aimed to investigate the clinical role of IDH1 mutation and MGMT methylation pattern among GBM patients versus non-neuro-oncological diseases (NND) patients and their impact on survival criteria. Formalin-fixed paraffin-embedded (FFPE) tissue sections of 58 GBM and 20 non-neuro-oncological diseases patients were recruited and IDH1 mutation and MGMT methylation was detected using Cast-PCR technology and Methyl II quantitative PCR approach, respectively. Results were assessed with other clinicopathological criteria and survival patterns. IDH1 mutation was detected among 15 GBM cases (15/58) and it was not reported among NND (P = 0.011). Receiver operating characteristic (ROC) curve was plotted to discriminate between MGMT methylation among studied groups. Patients with MGMT methylation ≥ 66% were reported as high methylation, which was recorded significantly in 51.7% and 100% of GBM cases and NND, respectively. Both showed significant difference with performance status, while MGMT methylation was significantly related with tumor size and tumor location. IDH1 mutation and MGMT methylation reported significant increase with GB patients revealed complete response to treatment. Survival pattern was better for IDH1 mutation and MGMT high methylation as compared to IDH1 wild type or MGMT low–moderate methylation, respectively, and favorable survival was detected when both were combined than using either of them alone. Detection of IDH1 mutation and MGMT methylation among GB patients could aid in prediction of their response to treatment and their survival patterns, and their combination is better than using any of them alone.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"2 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140322109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}