Human Gene最新文献

{"title":"Reciprocal regulation of miR-657 and IL-37 and its association with CTLA-4 dysregulation in Pediatric asthma: Diagnostic implications","authors":"Ghanyia Jasim Shanyoor ,&nbsp;Rand Moushtaq Taleb ,&nbsp;Rawan Ahmed Nijeeb ,&nbsp;Hiba Muneer Abdel Hassan Al-Khafaji ,&nbsp;Maryam Qasim Mohammed","doi":"10.1016/j.humgen.2026.201532","DOIUrl":"10.1016/j.humgen.2026.201532","url":null,"abstract":"<div><h3>Background</h3><div>Asthma is a chronic inflammatory disease of the airways, in which dysregulation of immune mediators contributes to disease pathogenesis. Interleukin-37 (IL-37) and cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) are key immunoregulatory molecules, while miR-657 has been implicated in modulating IL-37 expression in inflammatory conditions.</div></div><div><h3>Objectives</h3><div>This study aimed to assess the expression levels of <em>IL-37</em>, CTLA-4, and <em>miR-657</em> in asthma patients compared with healthy individuals, and to evaluate their diagnostic relevance through Receiver Operating Characteristic (ROC) curve analysis and logistic regression, without the intention of developing a predictive model or examining molecular interactions among these parameters.</div></div><div><h3>Methods</h3><div>This study included 90 participants, comprising 45 asthma patients and 45 age- and sex-matched healthy controls. Peripheral blood samples were analyzed to measure total IgE (Rate Scattering Turbidimetric Method), IL-37 mRNA expression (qRT-PCR), miR-657 levels (qRT-PCR), and circulating CTLA-4 concentrations (ELISA). Statistical evaluation involved ROC curve analysis to assess diagnostic performance and logistic regression to determine associations with asthma risk.</div></div><div><h3>Results</h3><div>Compared with healthy controls, asthma patients exhibited significantly lower <em>IL-37</em> expression (fold change: 0.82 ± 0.2 vs. 1.12 ± 0.4) and reduced serum CTLA-4 concentrations (45.67 ± 19.92 vs. 73.75 ± 26.11 ng/mL), whereas <em>miR-657</em> expression was significantly increased (fold change: 1.59 ± 0.7 vs. 1.07 ± 0.3). ROC curve analysis demonstrated that <em>IL-37</em> (AUC = 0.771), CTLA-4 (AUC = 0.807), and <em>miR-657</em> (AUC = 0.763) possess promising diagnostic accuracy, with substantial sensitivity and specificity. Logistic regression analysis confirmed that decreased <em>IL-37</em> (OR = 0.11) and CTLA-4 (OR = 0.96), as well as elevated <em>miR-657</em> (OR = 9.74), were significantly associated with increased asthma risk (overall model AUC = 0.890), supporting their relevance as diagnostic indicators.</div></div><div><h3>Conclusion</h3><div>The reciprocal regulation of miR-657 and IL-37, alongside diminished CTLA-4, points to a disrupted immunoregulatory axis in asthma. Collectively, these findings highlight the potential utility of <em>miR-657</em>, <em>IL-37</em>, and CTLA-4 as diagnostic signatures for asthma, supporting their relevance in disease assessment and monitoring.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201532"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146022690","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":"Genetic polymorphisms associated with type 2 diabetes in Morocco: A systematic literature review","authors":"Atmane Ait baha ,&nbsp;Zineb Kahli ,&nbsp;Hind Idrissi Hassani ,&nbsp;Mouna Habbane ,&nbsp;Sofia Semlali ,&nbsp;Otmane El Brini ,&nbsp;Bouchra Benazzouz ,&nbsp;Nawal El Ansari ,&nbsp;Omar Akhouayri","doi":"10.1016/j.humgen.2026.201531","DOIUrl":"10.1016/j.humgen.2026.201531","url":null,"abstract":"<div><div>This systematic literature review (SLR) investigated genetic polymorphisms associated with Type 2 Diabetes Mellitus (T2DM) in the Moroccan population by analyzing original research articles from multiple electronic databases, including PubMed, Scopus, ScienceDirect, Web of Science, and EBSCO. We identified studies that examined 52 genes and 90 single nucleotide polymorphisms. These polymorphisms are distributed across critical genes implicated in T2DM susceptibility. This review revealed several significant genetic associations, with <em>TCF7L2</em> emerging as the gene most strongly associated with T2DM susceptibility in the Moroccan population. Other important genes identified included <em>CYP11B2</em>, <em>FHL2</em>, <em>ADIPOQ</em>, <em>TNF-A,</em> and <em>IGF2BP2</em>, which were associated with T2DM risk to varying degrees. The analysis revealed the involvement of multiple pathways, including inflammatory processes, insulin secretion, and glucose homeostasis in T2DM pathogenesis. These findings provide a comprehensive overview of the genetic architecture underlying T2DM in the Moroccan population, offering valuable insights for future research and the potential development of personalized therapeutic approaches. This review represents a significant step toward understanding population-specific genetic factors of T2DM and their implications for clinical practice.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201531"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145975980","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":"Vitamin D receptor gene polymorphisms and the risk of autism spectrum disorder (ASD): A meta-analysis","authors":"Ghasem Fakourizad ,&nbsp;Alireza Hatami ,&nbsp;Saeed Aslani ,&nbsp;Mohammad Masoud Eslami ,&nbsp;Danyal Imani ,&nbsp;Bahman Razi ,&nbsp;Tannaz Jamialahmadi ,&nbsp;Prashant Kesharwani ,&nbsp;Amirhossein Sahebkar","doi":"10.1016/j.humgen.2025.201517","DOIUrl":"10.1016/j.humgen.2025.201517","url":null,"abstract":"<div><div>Several investigations have noted to the potential link between <em>Vitamin D Receptor</em> (<em>VDR</em>) gene polymorphisms and autism spectrum disorder (ASD); however, the findings have been controversial. To find a convincing answer, we performed this meta-analysis to identify a reliable understanding for plausible association of <em>VDR</em> gene SNPs and risk of ASD susceptibility. A systematic search was performed to search for relevant studies assessing the association between the Cdx (rs11568820), TaqI (rs731236), <em>Fok</em>I (rs2228570), <em>Apa</em>I (rs7975232), and <em>Bsm</em>I (rs1544410) SNPs of the <em>VDR</em> gene and susceptibility to ASD released before January 2024. Odd Ratio (OR) and 95 % CI were used to show statistical relationship between the <em>VDR</em> gene SNPs and ASD. In the final analysis 14 studies containing 2023 ASD patients and 2008 healthy individuals were included. The comprehensive analysis revealed that the TaqI variant across all genotypes, and the <em>Fok</em>I variant in recessive, allelic, and homozygote genetic models, were associated with an increased risk of ASD. According to the findings of this meta-analysis, TaqI and FokI SNPs play a role in predisposition to ASD; however, because of limitation in sample size and geographical distribution of included studies, findings should be interpreted cautiously.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201517"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145616455","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":"Integrative transcriptomic profiling of differentially expressed genes to identify potential biomarkers and repurposable therapeutic candidates in idiopathic pulmonary fibrosis","authors":"Bhavsar Mauli Chirag ,&nbsp;Potnuri Vishnu Priyanka ,&nbsp;Subhashini","doi":"10.1016/j.humgen.2026.201533","DOIUrl":"10.1016/j.humgen.2026.201533","url":null,"abstract":"<div><div>Idiopathic Pulmonary Fibrosis (IPF) is a chronic, progressive interstitial lung disease characterized by irreversible lung scarring with limited therapeutic options, poor prognosis, and high mortality rate. The present study aimed to elucidate the potential diagnostic biomarkers and therapeutic targets for IPF using an integrative bioinformatics and systems biology framework. Differential gene expression analysis of publicly available transcriptomic datasets (<span><span>GSE199152</span><svg><path></path></svg></span> and <span><span>GSE199949</span><svg><path></path></svg></span>) identified key differentially expressed genes (DEGs) involved predominantly in extracellular matrix organization, immune regulation, and fibrotic signaling pathways. Construction of protein–protein interaction (PPI) networks followed by cytoHubba analysis identified five core hub genes (ITGA2, ITGB3, ITGA11, COL1A1, and COL1A2), whose diagnostic potential was evaluated in silico using receiver operating characteristic (ROC) curve analysis. To strengthen the robustness of these biomarker candidates, an independent external dataset (<span><span>GSE92592</span><svg><path></path></svg></span>) was used for validation, where all five hub genes demonstrated high AUC values, confirming their reproducible diagnostic potential across cohorts. Gene regulatory network analysis highlighted critical transcription factors (SP1, RELA, NFKB1) and microRNAs (miR-29c, miR-21, miR-155, miR-30a) regulating these hub genes, emphasizing the complex transcriptional and post-transcriptional regulation underlying IPF. In parallel, drug repurposing analysis through DrugBank data, ADMET profiling, and molecular docking identified favorable interactions between the hub proteins and both approved (Nintedanib, Pirfenidone) and investigational drugs (Omipalisib, Olitigaltin, Suplatast, Tipelukast). Notably, Omipalisib and Olitigaltin exhibited favorable binding affinities, hydrogen bond interactions, and pharmacokinetic properties, suggesting potential therapeutic value in IPF management. Collectively, this integrative transcriptomics approach provides novel insights into IPF pathogenesis and highlights potential biomarkers and therapeutic candidates that may be further validated experimentally.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201533"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146022688","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":"Understanding rare diseases in Saudi Arabia: A systematic review of available evidence","authors":"Dalal Alkathiry ,&nbsp;Mohammed Alabdulaali ,&nbsp;Ghali Sayedahmed ,&nbsp;Anas Almasud ,&nbsp;Nora Althumairi ,&nbsp;Guillaume Favier ,&nbsp;Abdulelah AlGosaibi ,&nbsp;Karam Rachid ,&nbsp;Norah AlMousa ,&nbsp;Haya Intabli ,&nbsp;Mohammed Senitan ,&nbsp;Nawfal Aljerian","doi":"10.1016/j.humgen.2026.201534","DOIUrl":"10.1016/j.humgen.2026.201534","url":null,"abstract":"<div><h3>Introduction</h3><div>Rare diseases (RDs) are a major public health challenge in high-consanguinity regions like Saudi Arabia. Mostly genetic, chronic, and lacking effective treatment, they often face diagnostic delays and limited care. This study systematically reviews the prevalence, genetic risk factors, and healthcare challenges of RDs in Saudi Arabia.</div></div><div><h3>Methods</h3><div>A systematic review was conducted following PRISMA 2020 guidelines. Databases searched included MEDLINE (PubMed), Embase, Web of Science, and Scopus (2014–2024). Eligible studies addressed epidemiology, genetic predisposition, or clinical management of RDs in Saudi Arabia. Extracted data covered study design, sample size, disease type, and findings. Study quality was assessed with the Joanna Briggs Institute (JBI) tool.</div></div><div><h3>Results</h3><div>From 597 records, 25 studies met inclusion. Frequently studied RDs were Duchenne Muscular Dystrophy (DMD), Idiopathic Pulmonary Fibrosis (IPF), Myasthenia Gravis (MG), Granulomatosis with Polyangiitis (GPA), Sickle Cell Disease (SCD), and Spinal Muscular Atrophy (SMA). Across studies, delayed diagnosis, lack of genetic screening, and high economic burden were consistent themes. High consanguinity increased autosomal recessive disorders. Major gaps included limited access to specialized care, advanced therapies, and the absence of a national RD registry.</div></div><div><h3>Conclusions</h3><div>There is urgent need to expand genetic screening, improve diagnostics, and strengthen RD healthcare services in Saudi Arabia. Establishing registries, raising awareness, and developing cost-effective therapies are critical to improving outcomes and reducing disease burden.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201534"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146173025","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":"Exploring non -coding RNAs contribution to neural tube defects","authors":"Zahraa Isam Jameel","doi":"10.1016/j.humgen.2025.201528","DOIUrl":"10.1016/j.humgen.2025.201528","url":null,"abstract":"<div><div>This review paper covers the diversified role of non-coding RNAs (ncRNAs) in the formation of neural tube defects (NTDs). NTDs are a group of serious birth defects that arise when the neural tube does not close normally during the early embryonic development. Although both genetic and environmental factors are known to cause neural tube defects (NTDs), the role of non-coding RNAs (ncRNAs) in the molecular mechanisms is becoming more evident. In this article, the different kinds of ncRNAs, such as microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), and their particular roles during neural tube closure will be discussed, focusing on their prospects as therapeutic targets for NTD prevention or treatment. Studies have revealed the role of specific microRNAs, such as members in the miR-17–92 and miR-100 clusters, in the regulation of essential processes, including the proliferation, differentiation, and death of neural precursor cells. The disruption of critical signaling, such as folate metabolism and planar cell polarity, affects these processes. Moreover, there has now become evidence on the role of lncRNAs and circRNAs in the interaction with chromatin-modification complexes, influencing the epigenetic profiles required during neural tube closure, and the regulation of gene expression through the ceRNA action. The developing embryo, whose ncRNA network has the disrupted ncRNA network, has an increased risk of developing the defects in the neural tubes. conclusion, NTD ncRNs represent an important area in the understanding and diagnosis of neural tube defects. The use of ncRNs, particularly some types of microRNs, long ncRNs, and circRNs, has proven that they are far from the “noise” transcribed in the genome. In fact, they play vital roles in the regulation of genes related to the closing of the neural tube. When ncRNs, including some microRNs, long ncRNs, and circRNs, malfunction, they disrupt vital signaling, resulting in an increased risk of the development of NTDs in the embryo. ncRNs link genetic risk and environment, contributing to the increased incidence that was unaccounted for. Future studies, therefore, shall focus on the use of ncRNs in the biomarkers needed in detecting the risk factors and risk of NTDs, the use of long ncRNs and circRNs, and the development of strategies in the prevention of congenital defects.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201528"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924589","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":"Mitochondrial ND3, tRNA (Leu) and hypervariable region I: Variants in type II diabetes patients from the central rural Indian population.","authors":"Tejas Tajane ,&nbsp;Mamata Chandrakar ,&nbsp;Prafulla Ambulkar ,&nbsp;Pranita Waghmare ,&nbsp;Bharati Taksande ,&nbsp;Jwalant Waghmare","doi":"10.1016/j.humgen.2025.201520","DOIUrl":"10.1016/j.humgen.2025.201520","url":null,"abstract":"<div><div>Diabetes is a lifestyle disorder with the highest mortality rate, and mitochondria play a crucial role in the susceptibility and severity of diabetes. This study examined the relationship between mitochondrial genomic variants and lifestyle factors in patients with type 2 diabetes (T2D) within a rural central Indian population. We enrolled 156 participants with diabetes and 108 healthy participants, analysing their anthropometric measurements, lifestyle habits, and mitochondrial DNA (mtDNA) variants. A total of 74 variants were identified, with the D-loop region showing the highest mutation rates. When correlated with BMI, waist-to-hip ratio, and sedentary behaviour, these factors were significantly higher in the diabetes group than in the control group. The variants A10398G and C10400T in ND3 and C16223T in the D-loop were significantly associated with T2D, while T16093C and A3384G were more common in healthy controls, indicating a protective role. Analysing haplogroups revealed that the M haplogroup was the most prevalent, followed by U and H, with H being significantly more common in the healthy group. Additionally, lifestyle factors such as a high-carbohydrate diet and tobacco use contributed to disease progression. This study underscores that certain novel variants are linked to decreased susceptibility to T2D and highlights the complex interaction between mtDNA variants, lifestyle factors, and T2D in the Indian population.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201520"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681723","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 DVWA (rs7639618) gene polymorphisms with knee osteoarthritis susceptibility: An updated systematic review and meta-analysis","authors":"Annamalai R ,&nbsp;Venkatramanaiah C ,&nbsp;Marimuthu Raja ,&nbsp;Santhosh Kumar Yasam ,&nbsp;Sujhithra A ,&nbsp;Catherine Rexy ,&nbsp;Vignesh Narasimman ,&nbsp;D. Danis Vijay","doi":"10.1016/j.humgen.2025.201519","DOIUrl":"10.1016/j.humgen.2025.201519","url":null,"abstract":"<div><h3>Background &amp; aim</h3><div>Knee osteoarthritis (KOA)<span><span>¹</span></span> is a common degenerative joint disease characterized by progressive cartilage breakdown that leads to pain and reduced mobility. Although genetic predisposition including the double von Willebrand factor A (DVWA; rs7639618) gene polymorphism has been implicated in KOA, previous case–control studies have reported inconsistent findings. This updated meta-analysis aims to clarify the association between the DVWA (rs7639618) gene polymorphism and KOA susceptibility.</div></div><div><h3>Materials &amp; methods</h3><div>A systematic search was performed in Pub Med, Web of Science, Science Direct, and Google Scholar for case–control studies published up to June 2025. Eligible studies reported genotype and allele distributions for rs7639618 in KOA cases and controls. Study quality was assessed using the Newcastle–Ottawa Scale (NOS).<span><span>²</span></span> Odds ratios (ORs)<span><span>³</span></span> with 95 % confidence intervals (CIs)<span><span>⁴</span></span> were calculated under allele, recessive, dominant, and over-dominant models. Heterogeneity was evaluated using the Q test and I² statistic, and random- or fixed-effects models were applied accordingly. Subgroup analyses were conducted by ethnicity, and publication bias was assessed with funnel plots and Egger's test. Sensitivity analysis was carried out by excluding each study.</div></div><div><h3>Results</h3><div>Thirteen studies comprising 7110 KOA cases and 6931 controls were included. Pooled analyses across all genetic models showed no statistically significant association between rs7639618 and KOA susceptibility. For the allele contrast model, the overall OR was 1.03 (95 % CI: 0.90–1.19); for the recessive model, OR was 1.06 (95 % CI: 0.90–1.25); for the dominant model, OR was 1.08 (95 % CI: 0.85–1.38); and for the over-dominant model, OR was 0.98 (95 % CI: 0.91–1.05). Subgroup analyses revealed no increased risk in either Asian or Caucasian populations. Sensitivity analysis confirmed the stability of the results, and no significant publication bias was detected.</div></div><div><h3>Conclusion</h3><div>The findings of this meta-analysis suggest that the DVWA (rs7639618) polymorphism is not significantly associated with KOA susceptibility in the overall population or within specific ethnic groups. Despite the rigorous methodology and comprehensive analysis, the presence of substantial heterogeneity in some genetic models underscores the need for further well-designed, large-scale studies across diverse populations.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201519"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681724","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":"Identification of key players in drug resistant colon cancer - An integrative network pharmacology approach","authors":"Jeevitha Priya Manoharan ,&nbsp;Neha Saravanakumar ,&nbsp;Hema Palanisamy ,&nbsp;Subramanian Vidyalakshmi","doi":"10.1016/j.humgen.2025.201521","DOIUrl":"10.1016/j.humgen.2025.201521","url":null,"abstract":"<div><div>Multi Drug Resistance (MDR) of cancer cells is the most important cause for the failure of chemotherapy in treating cancer patients. Hence, identification of appropriate drug resistance biomarkers is the need of the hour to optimize treatment regimen. The goal of this study is to identify critical genes and pathways that could be used to predict the drug resistance in colon cancer patients. In this study, gene expression datasets of colon cancer patients and cell lines treated with 5-fluorouracil, irinotecan and oxaliplatin were obtained. Differential gene expression analysis was performed and the hub genes associated with drug resistance were identified through network analysis. The functional and pathway enrichment of the genes were performed. ABCC4, AKR1C3, CASP3, CASP4, IFITM1, IFITM2, IFITM3, IFI6, IFI44, IFI16, IFI27 and SLC1A7 were found to be highly interacting (Hub) genes in the network analysis. Two significant modules were predicted in the generated network by module analysis. The genes of module 2 were observed to be highly interacting with each other in the pathway cross talk analysis. Among the identified genes, IFI44 was significantly associated with the patients' overall survival. In addition, IFI44 found to be associated with immune infiltration in the tumor microenvironment. In addition, B-cell receptor signalling pathway, galactose metabolism, steroid hormone biosynthesis and folate biosynthesis pathway can be targeted for improving the efficacy of chemotherapeutic drugs, while treating multidrug resistant colon cancer. Hence, IFI44 could be used as a biomarker for identifying drug resistance. Further, experimental studies are required to validate our findings.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201521"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681654","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":"Exploring Parkinson's disease: Insights from genetic biomarkers and protein-protein interactions","authors":"Zahra Parani ,&nbsp;Yeganeh Sorayaei ,&nbsp;Mohammad Shokrzadeh ,&nbsp;Nargess Abdali ,&nbsp;Elham Rismani","doi":"10.1016/j.humgen.2025.201523","DOIUrl":"10.1016/j.humgen.2025.201523","url":null,"abstract":"<div><div>Parkinson's disease (PD) ranks as the second most prevalent neurodegenerative disorder, primarily characterized by motor dysfunction resulting from the degeneration of dopaminergic neurons. Early and accurate diagnosis is crucial for effective treatment; however, the overlap of symptoms with other disorders frequently results in misdiagnosis. This study aims to identify reliable biomarkers for the early PD diagnosis through a comprehensive literature review and bioinformatics analysis. We initially identified 32 genes strongly associated with PD, from published studies and database annotations. Further bioinformatics validation using protein-protein interaction networks and external gene expression datasets revealed additional candidate genes, including GBA1 and LRRK2, which are relevant to both familial and sporadic forms of PD. Enrichment analyses of these genes, emphasizing pathways related to mitochondrial function, autophagy and neurodegeneration-related pathways. Our findings highlight the promise of genetic biomarkers in improving diagnostic precision and guiding therapeutic approaches, thereby enhancing clinical outcomes for patients with PD. Ongoing validation of these results is essential for integrating biomarkers into standard clinical practice, with the ultimate goal of revolutionizing the diagnosis and management of PD.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201523"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145736910","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}