Human Gene最新文献

{"title":"Appraisal of prolyl 4-hydroxylase alpha subunit gene polymorphisms in Spondyloepimetaphyseal dysplasia of Handigodu type (SEMDHG)","authors":"Pulamaghatta N. Venugopal ,&nbsp;Isukapatla Arjun Rao ,&nbsp;Sahid Afrid Mollick ,&nbsp;Adimoolam Chandrasekar","doi":"10.1016/j.humgen.2025.201387","DOIUrl":"10.1016/j.humgen.2025.201387","url":null,"abstract":"<div><h3>Background</h3><div>The Handigodu variant of Spondyloepimetaphyseal Dysplasia (SEMD_HG) is a severe, progressive osteoarthritic disorder characterized by chronic pain and joint degeneration. Clinically, the disorder presents in three distinct phenotypic forms, each exhibiting varying degrees of stature reduction and disease severity. Urine analysis of affected individuals reveals an elevated peptide-bound proline to 4-hydroxyproline ratio relative to controls, suggesting disruptions in collagen metabolism. Given the critical role of prolyl 4-hydroxylase enzymes in stabilizing collagen structure, this study undertook a comprehensive sequence analysis of all three isoforms of prolyl 4-hydroxylase in both affected and unaffected individuals to elucidate potential molecular underpinnings of the disorder.</div></div><div><h3>Method</h3><div>The entire exonic regions and 2000 base pairs upstream of the translation start sites of the <em>P4HA1</em>, <em>P4HA2</em>, and <em>P4HA3</em> genes were sequenced in a cohort of 300 individuals, comprising 166 affected and 134 unaffected individuals.</div></div><div><h3>Results</h3><div>Sequence analysis of the α (I), α (II), and α (III) subunit genes identified three novel SNPs and a 39-bp deletion variant, in addition to ten previously reported SNPs catalogued in dbSNP. The SNP rs28384495 in <em>P4HA1</em>, the 39-bp deletion variant, and a novel mutation (SNP3) in <em>P4HA3</em> exhibited significantly different allele frequencies between patients and controls. Genotype association analysis revealed that SNPs in <em>P4HA1</em> and <em>P4HA3</em> were associated with Type 2 and Type 3 HD under various genetic models. Notably, all Type 2 HD patients were heterozygous for the 39-bp deletion, whereas all Type 3 HD patients were homozygous for the variant. Haplotype analysis corroborated the findings of the genotype association analysis.</div></div><div><h3>Conclusion</h3><div>This study is the first to account an association between the <em>P4H</em> gene and disease. Further research is needed to evaluate the functional implications of the identified mutations.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201387"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143264833","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":"Metformin's modulation of gut microbiota and its implications for Non-Alcoholic Fatty Liver Disease(NAFLD): A network pharmacology and molecular dynamics study","authors":"Sarvesh Sabarathinam ,&nbsp;Ramesh Venkatachalapathy ,&nbsp;Akash Jayaraman","doi":"10.1016/j.humgen.2024.201364","DOIUrl":"10.1016/j.humgen.2024.201364","url":null,"abstract":"<div><div>Non-alcoholic fatty liver disease (NAFLD) involves excessive fat accumulation in the liver, with gut microbiota playing a crucial role in its development. Metformin, a common treatment for type 2 diabetes, affects gut microbiota, influencing NAFLD management. This study investigates how metformin modifies gut microbes and how these changes impact bodily functions. Using network pharmacology, molecular docking, and dynamics studies, we identified key target genes linking NAFLD and gut metabolites. Molecular dynamics revealed that AKT1 and HSP0AA1 complexes are stable in solvent environments. Additionally, GO and KEGG pathway analyses indicated that these target genes are involved in lipid metabolism pathways. Our findings enhance the understanding of metformin's impact on NAFLD through gut microbiota modulation.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201364"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143805","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":"Unveiling the therapeutic potential of Quercetin and its metabolite (Q3OG) for targeting inflammatory pathways in Crohn's disease: A network pharmacology and molecular dynamics approach","authors":"Sarvesh Sabarathinam","doi":"10.1016/j.humgen.2024.201372","DOIUrl":"10.1016/j.humgen.2024.201372","url":null,"abstract":"<div><div>Crohn's disease is a chronic, inflammatory-mediated condition that calls for an innovative therapeutic approach. Quercetin, a bioactive molecule, has a significant therapeutic impact on chronic illnesses mediated by inflammatory processes. Using the network Pharmacology (NP) based approach, top-ranked targets such as AKT1, MMP9, EGFR, MMP2, TNF, PTGS2, SRC, KDR, PARP1, and MCL1 have been identified. Molecular docking were performed for the AKT1 target towards PDB: <span><span>7NH5</span><svg><path></path></svg></span>, which shows that Q3OG [<strong>Quercetin 3-Glucuronide</strong>] (−10.4 kcal/mol) has stronger binding affinity when compared with <strong>Quercetin</strong> [Q](−8.4 kcal/mol). The Biological process, Cellular component and molecular function was estimated from the network analysis of the Hub-genes. The KEGG enrichment analysis was performed to ensure the enriched targets. To provide a more effective mechanism for demonstrating protein-ligand interaction of Q and Q3OG with Akt1 protein kinase complex were subjected to a molecular dynamic at 300 K for 100 ns. The complex's structural stability, compactness, residual flexibility and hydrogen bond interaction were evaluated. This result inspires hope for future research and prospective therapeutic approaches to identifying lead molecules from quercetin.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201372"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143806","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 effects of Quercetin on microRNAs expression in the breast cancer cell lines: A systematic review","authors":"Niloofar Sharbati ,&nbsp;Mohammad Hossein Dehghan ,&nbsp;Malihe Safavi ,&nbsp;Malihe Farid ,&nbsp;Naghmeh Zhalehjoo","doi":"10.1016/j.humgen.2025.201379","DOIUrl":"10.1016/j.humgen.2025.201379","url":null,"abstract":"<div><div>Although standard therapeutic modalities have significantly improved the treatment of patients with Breast Cancer (BC), BC is the most common leading cause of cancer mortality worldwide. Evidence indicates that Quercetin could inhibit signal transduction, induce cancer cell apoptosis, and suppress proliferation, invasion, and metastases of tumor cells via regulation of microRNA (miRNA) expression. Hence, this study was conducted to systematically assess the effect of Quercetin on miRNA expression in BC cell lines.</div><div>A comprehensive search of electronic databases including Scopus, Cochrane Library, PubMed, and Web of Science was conducted with keywords (i.e., “MicroRNA”,” Quercetin”, “Normal tissue”, “Breast cancer”, “Cell line”, “Apoptosis”, “Survival”, “Prognosis”, “Up-regulation”, “Down-regulation”, “Proliferation”, “Overexpression”, and “Lower expression”) to identify relative articles published until August 2023. Studies that investigated the effects of Quercetin on BC cell lines were included. Data regarding miRNA expression and cell survival were extracted.</div><div>Initially, 6753 studies were retrieved, of which 14 met inclusion criteria. Accordingly, 2 studies were included in the final assessment. The findings of 2 studies revealed that Quercetin could inhibit the progression of BC cell lines through up-regulation of the miR-146a in MCF-7 and MDA-MB-231 cell lines, and down-regulation of miR-21 in MCF-7 cells.</div><div>Our study showed that the inhibition role of Quercetin on BC cell line could be provided via miRNA expression.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201379"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143809","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":"Profiling of human genes afflicted with nasopharyngeal carcinoma using microarray data","authors":"Rupam Raj ,&nbsp;Subhashini ,&nbsp;Kamalesh Kumar Patel ,&nbsp;Mukesh Kumar","doi":"10.1016/j.humgen.2025.201376","DOIUrl":"10.1016/j.humgen.2025.201376","url":null,"abstract":"<div><div>Background</div><div>Nasopharyngeal carcinoma (NPC) is the most prevalent malignant carcinoma, and yet the biological mechanisms behind its pathogenesis are still unknown.</div><div>Objective</div><div>The objective of the research work was to apply bioinformatics tools to determine the essential expressed genes linked to NPC pathogenesis.</div><div>Material and methods</div><div>We retrieved three datasets (GSE12452, GSE13597, and GSE64634), from the Gene Expression Omnibus (GEO) portal. Differentially expressed genes (DEGs) determined between two groups called normal and NPC tissues. Gene ontology enrichment analysis (GO) performed through the online tool DAVID, and Kyoto Encyclopedia of Genes and Genomes (KEGG) online database used to identify pathways and progressions in which DEGs are highly involved in disease progression.</div><div>Results</div><div>We identified 77 commonly upregulated, 62 common downregulated in total 140 common DEGs in 3 datasets. The key cancer-causing pathways found in our study were mostly regulating cell adhesion molecules, Akt signalling pathway, cell cycle, cytochrome P450 and one carbon pool by folate. The interaction is shown between these DEGs through a protein protein interaction (PPI) network using STRING software and try to understand the effect these genes have on each other and noticed the most influential genes by studying their topological connectivity. The most influential genes, hub genes were identified by creating modules upon analysis of these modules.</div><div>Conclusions</div><div>We got 4 hub genes namely Aurora A (AURKA), Breast cancer susceptibility gene 1 (BRCA1), Fanconi anaemia group I protein (FANCI), and Abnormal spindle microtubule assembly (ASPM). For validation, we performed a survival analysis using GEPIA against the TCGA database, all four hub genes were upregulated in carcinoma cases compared to normal cases. These four biomarkers found can be used as potential therapeutic targets and as molecular signatures for early detection of NPC.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201376"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143788","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":"An investigation on genetic mutations affecting embryo, oocyte, and sperm quality: An IVF failure perspective","authors":"Tahereh Barati ,&nbsp;Zohreh Mirzaei ,&nbsp;Amir Ebrahimi ,&nbsp;Davood Ghavi ,&nbsp;Mahmoud Shekari Khaniani ,&nbsp;Sima Mansoori Derakhshan","doi":"10.1016/j.humgen.2025.201384","DOIUrl":"10.1016/j.humgen.2025.201384","url":null,"abstract":"<div><div>Successful reproduction in humans requires high-quality gametes and successful fertilization. Disruptions in oocyte and sperm maturation can cause infertility and IVF/ICSI procedure failure. Identifying valuable molecular markers is critical for understanding the genetic basis of these failures and assessing gamete quality. In this review, we have described the mutations that affect oocyte, embryo, and sperm quality at each stage of maturation. Genes such as TUBB8, BTG4, PADI6, MEI1, REC114, TLE6, KHDC3L, WEE2, PATL2, NLRP5, CHK1, ZP1, ZP2, and ZP3 are discussed for their roles in oocyte maturation, fertilization, zygote cleavage, and early embryonic development. As well as genes like KCNU1, DNAH6, HAUS7, PLCζ, ZDHHC19, CFTR, DAZ, CATSPER2, 3, and DNAH2 are explored for their influence on sperm morphology, motility, and count. These genetic markers and variants will serve as the basis for personalized genetic counseling and possible patient therapies.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201384"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144016","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 shared genetic factors and prognostic biomarkers in pancreatic cancer and non-alcoholic fatty liver disease: Focus on hsa-miR-29c-3p and COL11A1 axis","authors":"Ayan Saha ,&nbsp;Inan Rahman ,&nbsp;Ayan Roy ,&nbsp;Nusrat Azad ,&nbsp;Paromita Biswas ,&nbsp;Ayesha Tasnim Usha ,&nbsp;Abul Faisal M.D. Nuruddin Chowdhury ,&nbsp;Jannatul Ferdoush","doi":"10.1016/j.humgen.2024.201371","DOIUrl":"10.1016/j.humgen.2024.201371","url":null,"abstract":"<div><h3>Background</h3><div>Pancreatic cancer (PC) has a high fatality rate and is often diagnosed late. Obesity is a significant risk factor for PC, leading to inflammation and altered gut microbiota that may contribute to its development. Non-alcoholic fatty liver disease (NAFLD) is linked to obesity but its association with PC risk remains unclear. Both PC and NAFLD may share genetic factors, and research is ongoing to understand their underlying mechanisms through comprehensive sequencing data analysis.</div></div><div><h3>Method</h3><div>The study utilized bioinformatics tools and databases to analyze gene expression data from PC and obese NAFLD. Differential gene expression, enrichment analysis, and protein-protein interaction analysis identified potential biomarkers and therapeutic targets. Survival analysis validated hub genes, and correlation analysis was used to evaluate the relationships between immune cells and PC. Prognostic miRNA analysis and drug sensitivity assessment revealed predictive biomarkers for drug efficacy. Statistical methods were applied to evaluate significance.</div></div><div><h3>Results</h3><div>The study compared gene expression profiles between PC and NAFLD, revealing 58 common genes. Important pathways such as tyrosine metabolism, fatty acid degradation, and glycolysis/gluconeogenesis were revealed by enrichment analysis to be connected to the common genes in both diseases. Notably, five hub genes (MARCO, COL11A1, CDCP1, CLEC5A, COL6A6) emerged as potential players in PC and NAFLD. Survival analysis confirmed their significance in PC prognosis. The study also identified hsa-miR-29c-3p as a promising prognostic biomarker targeting COL11A1 in PC, along with the long non-coding RNA (IncRNA) taurine-upregulated gene 1 (TUG1) axis, which was associated with poor survival of PC patients. The clinical significance of hsa-miR-29c-3p was highlighted by Receiver Operating Characteristic (ROC) curve analysis, which also provided insight into the relationships between chemo-resistance, particularly with regard to Capecitabine.</div></div><div><h3>Conclusion</h3><div>The study identified the shared genetic factor COL11A1 as a possible biomarker in PC and NAFLD. Notably, hsa-miR-29c-3p emerged as a promising prognostic biomarker targeting COL11A1 in PC, with implications for patient survival. These findings contribute to our understanding of the underlying mechanisms and may offer clinical significance in predicting outcomes and guiding therapeutic approaches for these challenging diseases.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201371"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143807","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":"Unravelling genetic commonalities between idiopathic pulmonary fibrosis and gastroesophageal reflux disease: A bioinformatics exploration","authors":"Sanjukta Dasgupta","doi":"10.1016/j.humgen.2025.201375","DOIUrl":"10.1016/j.humgen.2025.201375","url":null,"abstract":"<div><h3>Background</h3><div>Idiopathic pulmonary fibrosis (IPF) and gastroesophageal reflux disease (GERD) are chronic conditions that frequently co-occur, yet their genetic correlation remains underexplored.</div></div><div><h3>Methods</h3><div>This study utilized publicly available datasets (GSE150910 and GSE226303) from the NCBI-GEO database to identify common differentially expressed genes (DEGs) between IPF and GERD. DEGs were analyzed using DESeq2 and GEO2R, with hub genes identified via cytoHubba algorithms (MCC, MNC, DMNC). Subsequently, network interactions were analyzed with GeneMania, while pathway interactions were explored using the Enrichr tool. Potential drug targets were identified using DGIdb, with ADMET properties evaluated using SWISSADME and toxicity assessed via Protox-II. Molecular docking of the drug to target protein was performed using AutoDock Vina to predict the binding affinities.</div></div><div><h3>Results</h3><div>A total of 52 overlapping DEGs (51 up-regulated, 1 down-regulated) were identified between IPF and GERD, with nine hub genes (<em>MUC5AC</em>, <em>RGS2</em>, <em>AGR2</em>, <em>LIF</em>, <em>CXCL6</em>, <em>CXCL8</em>, <em>SULT1E1</em>, <em>RGS1</em>, and <em>IL1B</em>) selected through topological analysis. <em>RGS1</em> and <em>LIF</em> showed the highest diagnostic potential, supported by distinct correlation patterns in gene expression. Haloperidol, identified via DGIdb, interacts strongly with RGS2, confirmed by docking analysis (−7.5 kcal/mol). ADMET analysis demonstrated haloperidol's oral bioavailability and adherence to Lipinski's rules, while Protox-II classified it as toxicity class-3.</div></div><div><h3>Conclusions</h3><div>This study identifies nine common hub genes and highlights the association of the IL-10 signaling pathway in both IPF and GERD. Haloperidol emerged as a potential therapeutic drug for IPF patients with GERD, showing significant interaction with <em>RGS2</em>.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201375"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143811","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":"Epidermal growth factor receptor (EGFR) as a key regulator in type 2 diabetes: Drug discovery insights","authors":"Ricardo Romero Ochoa,&nbsp;Celic Abigail Cohen Rojas","doi":"10.1016/j.humgen.2025.201390","DOIUrl":"10.1016/j.humgen.2025.201390","url":null,"abstract":"<div><h3>Introduction</h3><div>Type 2 diabetes (T2D) is a complex metabolic disorder with incompletely understood molecular mechanisms. This study aimed to elucidate the T2D regulatory network and identify potential drug targets and candidates.</div></div><div><h3>Methods</h3><div>We performed differential gene expression analysis on multiple T2D datasets, constructed protein-protein interaction networks, and conducted a meta-analysis to identify key hub genes. Functional enrichment analysis was performed on the resulting network. Structure-based virtual screening targeting EGFR was used to identify potential drug candidates, followed by molecular dynamics simulations and free energy calculations to assess the findings.</div></div><div><h3>Results</h3><div>EGFR emerged as a consistently top-ranked hub gene across studies. The regulatory network comprised hub genes, transcription factors, and miRNAs involved in processes such as apoptosis regulation, cellular response to organic substances, and reactive oxygen species metabolism. Virtual screening identified two compounds with favorable ADMET properties and strong binding affinities to EGFR, outperforming control drugs. These compounds demonstrated stable interactions in molecular dynamics simulations and free energy calculations.</div></div><div><h3>Conclusions</h3><div>Our integrative analysis provides new insights into the T2D regulatory network, highlighting EGFR as a potential therapeutic target. The identified drug candidates offer promising avenues for T2D treatment and related disorders involving EGFR signaling, bridging systems biology and drug discovery approaches in metabolic disease research.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201390"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143428055","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":"Impact of unique host genetic variants in the HIV life cycle, differentiates the long-term non-progressors and rapid progressors in South Indian females","authors":"Muthukannan Aishwaryalakshmi ,&nbsp;Maruthamuthu Stalinraja ,&nbsp;Kalaimani Pandian ,&nbsp;Manoharan Mythreyee ,&nbsp;Madasamy Suresh ,&nbsp;Mariakuttikan Jayalakshmi","doi":"10.1016/j.humgen.2025.201382","DOIUrl":"10.1016/j.humgen.2025.201382","url":null,"abstract":"<div><div>Human immunodeficiency virus infected individuals manifest variability to resistance and susceptibility towards the progression of acquired immunodeficiency syndrome. This contrariety challenges the understanding of host genome for the disease progression and resistance. In this study, the reasons for the differential disease progression based on the immunogenetics of the individuals are explored through whole exome sequencing. A retrospective study of 19 HIV patients, clinically classified as Long-Term Non-Progressors (LTNPs = 9) and Rapid Progressors (RPs = 10), were sequenced for their coding regions using Illumina platform. The raw data of these 19 samples were analyzed for calling single nucleotide polymorphism using various bioinformatics tools like Alignment, GATK, and SnpEff. The variations in the exome were filtered based on missense pathogenicity and combined annotation dependent depletion score. The present study identified the variations in 35 host genes involved in HIV viral life cycle that differentiate the progression of AIDS in the infected individuals. Among these host genetic variants, the variations in the genes SERINC2, NUP153, PSIP1, SUPT4H1 and EP300 were found only in the LTNPs but not in RPs. Similarly the variations in the genes TRIM54, KAT2B, BICD2, FEZ, and MAP1LC3B were found only in the RPs. The variations in the genes PDCD6IP &amp; MAP1A were observed both in LTNPs &amp; RPs. Hence, the 5 genetic variants specifically found in the LNTPs might have a key role in the delayed progression of AIDS.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201382"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144018","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}