Egyptian Journal of Medical Human Genetics

Abstract Background Liver fibrosis is a widespread chronic liver ailment linked to substantial mortality and limited therapeutic options. An in-depth comprehension of the genetic underpinnings of liver fibrogenesis is crucial for the development of effective management and treatment approaches. Results Using bioinformatics tools and the DisGeNET database, we pinpointed 105 genes significantly linked to liver fibrosis. Subsequently, we conducted functional assessments, incorporating gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, and the STRING database, to construct protein–protein interaction networks (PPI) for these 105 liver fibrosis-associated genes. These analyses were executed via the WebGestalt 2019 online platform. We employed Cytoscape plugins, MCODE, and CytoHubba, to identify potential biomarker genes from these functional networks. Noteworthy hub genes encompassed TGF-β1, MMP2, CTNNB1, FGF2, IL6, LOX, CTGF, SMAD3, ALB, and VEGFA . TGF-β1 and MMP-2 exhibited substantial promise as liver fibrosis biomarkers, as denoted by their high systemic scores determined through the MCC algorithm in the CytoHubba methodology. Conclusions In summary, this study presents a robust genetic biomarker strategy that may prove invaluable in the identification of potential liver fibrosis biomarkers.

Ariza Julia Paulina

Y. Vitriyanna Mutiara

Lalu Muhammad Irham

Darmawi Darmawi

Nurul Qiyaam

Firdayani Firdayani

Dian Ayu Eka Pitaloka

Arfianti Arfianti

Wirawan Adikusuma

Genetic-driven biomarkers for liver fibrosis through bioinformatic approach

Abstract Aim To investigated the relationship between three common polymorphisms (rs2228000, rs2228001, and PAT) in xeroderma pigmentosum complementation group C ( XPC ) gene and susceptibility to opium dependence (OD). Methods A total of 143 (131 male, 12 female) opium dependent patients and 570 (515 male, 55 female) controls were comprised in this study. The controls and cases were sex and age-matched. The genotypes of the polymorphisms were determined by polymerase chain reaction using primers specific for each polymorphism. Statistical comparisons were performed with SPSS software (version 26) using odds ratios (OR), and their 95% confidence intervals (95% CI). Haplotype analysis was also performed using SNPAlyze(TM) version 6 software. Results There was no association between rs2228000 and the risk of OD in the statistical analyses. The risk of OD was associated with the other two variants. The pooled ID and DD genotypes of the PAT polymorphism significantly decreased the risk of OD (OR = 0.66, 95% CI: 0.44–0.98, p = 0.042). For the rs2228001 polymorphism, AC + AA was negatively correlated with the risk of OD (OR = 0.65, 95% CI: 0.44–0.97, p = 0.038). Conclusion The present findings propose that probably XPC is an appropriate candidate gene for susceptibility to opiate dependence.

Arghavan Qasemian-Talgard

Mostafa Saadat

Association between three common genetic polymorphisms of xeroderma pigmentosum complementation group C (XPC) and susceptibility to opium dependency

三个人类着色性干皮病互补群C (XPC) 常见基因多态性与鸦片依赖易感性的关联

Abstract Background Chronic myeloid leukemia (CML) relapse and progression after discontinuation of tyrosine kinase inhibitors (TKI) therapy in the chronic phase (CP) are attributed to primitive quiescent leukemic progenitor cells (LPCs). This study aimed to identify key differentially expressed genes (DEGs) involved in molecular pathways alternative to BCR-ABL, which could lead to the eradication of leukemic stem/progenitor cells. Methods mRNA expression profiling dataset comprising newly diagnosed untreated CP CML leukemic progenitor cell samples $$\left( {n = 5} \right)$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mfenced> <mml:mrow> <mml:mi>n</mml:mi> <mml:mo>=</mml:mo> <mml:mn>5</mml:mn> </mml:mrow> </mml:mfenced> </mml:math> and normal hematopoietic progenitor cell samples $$\left( {n = 5} \right)$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mfenced> <mml:mrow> <mml:mi>n</mml:mi> <mml:mo>=</mml:mo> <mml:mn>5</mml:mn> </mml:mrow> </mml:mfenced> </mml:math> were selected for DEGs identification. A weighted gene co-expression network was constructed to identify significant hub modules. Protein–protein interaction (PPI) network construction and pathway enrichment analysis provided additional information on the biological pathways involved. The genes involved in the resultant PPI network were subjected to a gene transcriptional regulatory network based on transcription factors (TFs) and microRNAs (miRNAs) involved in the target genes. Results A total of 709 genes that were differentially expressed among those corresponding to $$p &lt; 0.05$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mrow> <mml:mi>p</mml:mi> <mml:mo>&lt;</mml:mo> <mml:mn>0.05</mml:mn> </mml:mrow> </mml:math> and $$\left| {\log_{2} \left( {FC} \right)} \right| &gt; 0.5$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mrow> <mml:mfenced> <mml:mrow> <mml:msub> <mml:mo>log</mml:mo> <mml:mn>2</mml:mn> </mml:msub> <mml:mfenced> <mml:mrow> <mml:mi>FC</mml:mi> </mml:mrow> </mml:mfenced> </mml:mrow> </mml:mfenced> <mml:mo>&gt;</mml:mo> <mml:mn>0.5</mml:mn> </mml:mrow> </mml:math> . The WGCNA showed a significant hub module comprising 267 DEGs. The major pathways of the hub genes involved in the PPI network at the highest confidence score $$&gt; 0.9$$ <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"> <mml:mrow> <mml:mo>&gt;</mml:mo> <mml:mn>0.9</mml:mn> </mml:mrow> </mml:math> were related to mitochondrial translational elongation. The integrated gene transcriptional regulatory network revealed a TF (ETS1), two miRNAs (miR-34a-5 p and miR-205-5 p ) targeting a hub gene (GFM1) as the highest-order motif or subnetwork in the three-node miRNA feed-forward loop. Conclusions The study suggests that the regulatory feed-forward loop may provide a potential therapeutic target in CML. Consequently, the mitochondrial translation pathway may be explored as an alternative to BCR-ABL pathways, which could aid in eliminating or increasing sensitization of CML progenitor/stem cells to TKI treatment.

Alvea Tasneem

Archana Sharma

Mansoor Ali Syed

Ravins Dohare

Transcriptomic analysis delineates potential regulatory network as therapeutic alternatives in chronic myeloid leukemia

转录组分析描绘了慢性髓性白血病中潜在的调控网络及治疗替代方案

Abstract Serum and glucocorticoid-regulated kinase 1 (SGK1) plays a multifaceted role in cancer progression and treatment resistance. Its importance stems from its role in several cellular functions essential to cancer development, including metabolism, apoptosis, cell survival, and proliferation. In cancer, SGK1 expression is often dysregulated, leading to its overactivation or overexpression in many malignancies. This dysregulation can promote tumor growth, invasion, and metastasis through several mechanisms. We perform a bibliometric analysis to explore the role of SGK1 in cancer in the last ten years. All publications related to this topic were retrieved from the Scopus database. Microsoft Office Excel 2021 and VOSviewer (version 1.6.20) were used for the bibliometric analysis. The filtered search identified 5322 articles published between 2013 and 2023. Regarding research and scientific collaboration in this field, China is in the lead, followed by the USA, Germany, the UK, Japan, and Italy. In summary, SGK1 plays a critical role in cancer by regulating cell survival, proliferation, metabolism, and stemness. Its dysregulation promotes tumor growth, metastasis, and resistance to therapy. Targeting SGK1 is promising for enhancing cancer treatment efficacy, but further research is needed to fully understand its mechanisms and develop effective therapeutic strategies. Our study offers significant contributions to the field of cancer research by providing a comprehensive understanding of SGK1's role in cancer biology and highlighting its potential as a therapeutic target. These insights can inform future studies and guide the development of novel cancer prevention, diagnosis, and treatment approaches.

Wesam Ibrahim Abo- Elenien

Samira G. Badawy

Osama Abouelenin

Farhan Khaleel Hussein

Sakshi Kumari

Role of sgk1 in cancer: a bibliometric analysis from 2013 to 2023—review article

sgk1在癌症中的作用：2013年至2023年的文献计量分析——综述文章

Abstract Background A variation in the number of chromosomes can lead to chromosomal disorders. These chromosomal aberrations might be related to autosomes or sex chromosomes. The most common chromosomal aberrations that are sex-linked and autosomal are Klinefelter syndrome and Down syndrome, respectively. However, the worldwide occurrence of double chromosomal aneuploidy in a single individual is relatively exceptional event and random meiotic nondisjunction events result in double aneuploidy, which causes trisomy of two distinct chromosomes. The clinical manifestations vary depending on whether aneuploidy is dominant or an amalgam of both. Moreover, double aneuploidy including autosome and sex chromosome is not often documented. In this paper, we document a case of Down–Klinefelter double aneuploidy syndrome in an Indian infant hospitalized to the neonatal care unit. Case presentation A full-term 9-month-old male infant born to a 36-year-old female with classical clinical signs of Down syndrome like epicanthus, a depressed nasal bridge, a flat face, small ears, an open mouth, thick lower lip vermilion, a protruding tongue, and a short neck was referred for cytogenetic examination, revealing a rare karyotype of 48, XXY, + 21. Conclusion Down–Klinefelter syndrome is a rare chromosomal anomaly with unique characteristics, often displaying only Down syndrome-like traits at birth. Early diagnosis can be challenging due to the lack of noticeable symptoms until puberty. Early cytogenetic investigation can detect double aneuploidy, improving the affected person's quality of life and educating family members about potential medical and psychosocial difficulties.

Sunny Kumar Jignesh Kumar Patel

Shagufa Sheikh

Birendranath Banerjee

A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report

印度婴儿同时患有唐氏综合征和克莱恩费尔特综合征的双重非整倍体病例：详细病例报告

Abstract Background Cardiovascular diseases (CVDs) are complex diseases determined by various environmental risk factors and genetic susceptibility, and NOS3 and PON1 are considered one of the susceptible genes for CVD. Our study aims to evaluate the association of NOS3 rs1799983 and PON1 rs662 variants with CVD. Methods A case–control study was conducted among equal number (252) of cases and controls in the Pakistani population to investigate the significance of NOS3 (rs1799983) and PON1 (rs662) variants in causing CVD risk. Genotyping was performed using Tetra-ARMS PCR to evaluate the genotype–phenotype correlation. For meta-analysis, the case–control studies of NOS3 rs1799983 and PON1 (rs662) variants and CVD were included by searching various databases according to PRISMA guideline. Eligible data were extracted and pooled and were analyzed using Review Manager version 5.4 based on four different genetic models. Results Our case–control study showed that both NOS3 rs1799983 (OR = 2.39, p = &lt; 0.0001, AIC value = 710.50) and PON1 rs662 (OR = 7.30, p = &lt; 0.0001, AIC value = 680.10) variants significantly increase the risk of CVD under recessive genetic contrast model. The meta-analysis of NOS3 rs1799983 showed association with CVD under all four genetic model's understudy, however, no heterogeneity was found under recessive model only. Meta-analysis for PON1 rs662 showed association with homozygous genetic contrast model only, whereas heterogeneity was observed under all the genetic model's understudy. Conclusions We found NOS3 rs1799983 was associated with the increased risk of CVD under four genetic contrast models, while PON1 rs662 polymorphisms associated with homozygous genetic contrast model in different populations only. These results can be utilized to identify individuals at high risk of CVDs and for disease management.

Kainat Aamir

Sara Aslam

Hafiz Muhammed Suleman

Ammara Khalid

Decoding the role of NOS3 rs1799983 and PON1 rs662 variants in cardiovascular diseases

解码NOS3 rs1799983和PON1 rs662变异在心血管疾病中的作用

短名	Egypt. J. Med. Hum. Genet.
Journal Impact	1.07
国际分区	GENETICS & HEREDITY(Q4)

ISSN	1110-8630, 2090-2441
h-index	25

涉及主题	生物医学遗传学内科学化学生物化学基因病理内分泌学心理学基因型免疫学精神科等位基因外科社会学
出版信息	出版商: Springer Nature，出版周期: ，期刊类型: journal，开源期刊: 是
基本数据	创刊年份: 2010，原创研究文献占比: 81.10%，自引率:0.00%， Gold OA占比: 100.00%
平均审稿周期	网友分享经验：18 Weeks

Egyptian Journal of Medical Human Genetics

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Genetic-driven biomarkers for liver fibrosis through bioinformatic approach

Association between three common genetic polymorphisms of xeroderma pigmentosum complementation group C (XPC) and susceptibility to opium dependency

Transcriptomic analysis delineates potential regulatory network as therapeutic alternatives in chronic myeloid leukemia

Role of sgk1 in cancer: a bibliometric analysis from 2013 to 2023—review article

A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report

Association between three common genetic polymorphisms of xeroderma pigmentosum complementation group C (XPC) and susceptibility to opium dependency

Transcriptomic analysis delineates potential regulatory network as therapeutic alternatives in chronic myeloid leukemia

Decoding the role of NOS3 rs1799983 and PON1 rs662 variants in cardiovascular diseases

A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report

Role of sgk1 in cancer: a bibliometric analysis from 2013 to 2023—review article