Human Gene最新文献

{"title":"Profile of expression of human endogenous retroviruses and their interplay on inflammatory status in patients with chronic venous disease","authors":"Kevin Cézar Nascimento Silva ,&nbsp;Ana Paula Augusto da Cruz Ballerini ,&nbsp;Bruna Reimberg Flose ,&nbsp;Michelly Damasceno Silva ,&nbsp;Célia Aparecida Marques Pimenta ,&nbsp;Marina Tiemi Shio ,&nbsp;Jonatas Bussador do Amaral ,&nbsp;Liã Bárbara Arruda ,&nbsp;André Luis Lacerda Bachi ,&nbsp;Carolina Nunes França ,&nbsp;Luiz Henrique da Silva Nali","doi":"10.1016/j.humgen.2025.201411","DOIUrl":"10.1016/j.humgen.2025.201411","url":null,"abstract":"<div><h3>Introduction</h3><div>Chronic Venous Disease (CVD) encompass several venous disorders characterized by chronic inflammatory state leading to sever impairment of blood return. Although Human Endogenous Retroviruses (HERVs) have shown a role in autoimmune diseases and inflammatory responses, its impact on CVD is poorly understood. Here we described the level of HERVs expression and the systemic inflammatory status in CVD patients.</div></div><div><h3>Methods</h3><div>A total of 85 volunteers (CVD <em>n</em> = 39, control group <em>n</em> = 46) were enrolled in the study. Real Time PCR was performed to determine the expression of HERV-W-<em>env</em> and HERV-K-<em>gag</em> using GAPDH as housekeeping gene to infer relative quantification. Serum levels of cytokines IL-6, IL-10, and TNF-α were quantified using ELISA.</div></div><div><h3>Results</h3><div>HERV-W-<em>env</em> expression in CVD patients was 6-fold higher than the control group (<em>p</em> &lt; 0.01), whereas HERV-K-<em>gag</em> was not expressed in CVD patients. CVD patients presented higher serum concentration of pro-inflammatory cytokines IL-6 and TNF-α than control group (<em>p</em> &lt; 0.01). Positive correlation was observed between IL-10 and both TNF-α and IL-6 (p 〈0,01) and HERV-W and TNF-α/IL10 ratio in CVD patients.</div></div><div><h3>Conclusions</h3><div>Our findings indicate high transcriptional activity of HERV-W in CVD, which suggest a possible involvement of HERV-W in the pathogenesis of CVD.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201411"},"PeriodicalIF":0.5,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143878937","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":"MicroRNA profiling in pancreatic cancer and chronic pancreatitis: Novel insights and pathway analysis","authors":"Hossein Azadinejad ,&nbsp;Mohammad Farhadi Rad ,&nbsp;Ali Babaeizad ,&nbsp;Ali Samadi","doi":"10.1016/j.humgen.2025.201410","DOIUrl":"10.1016/j.humgen.2025.201410","url":null,"abstract":"<div><div>Pancreatic cancer, particularly pancreatic ductal adenocarcinoma (PDAC), poses significant prognostic challenges, with a 5-year survival rate of around 10 %. Early detection remains elusive due to nonspecific symptoms and the disease's aggressive nature. Chronic pancreatitis (CP) significantly increases the risk of PDAC, with studies indicating a 14-fold increase. This paper investigates the role of microRNAs (miRNAs) in the molecular pathogenesis of CP and PDAC, employing a comprehensive analysis of microarray datasets to identify differentially expressed miRNAs (DEMs) among these conditions and healthy controls. Utilizing bioinformatics tools such as Weighted Gene Co-Expression Network Analysis and functional enrichment analysis, we highlighted key signaling pathways, including PI3K/AKT/mTOR and TNF-α via NF-κB, crucial to both diseases. We identified critical genes—AKT1, TP53, EGFR, MYC, and CTNNB1—that play significant roles in PDAC and CP. Furthermore, we developed a Support Vector Machine model to classify PDAC, CP, and healthy individuals, achieving an accuracy of 88.3 %. Our findings pinpoint several DEMs with considerable diagnostic potential, particularly hsa-miR-130b and hsa-miR-148a for PDAC, hsa-miR-192 and hsa-miR-150 for CP, and hsa-miR-222 for differentiating PDAC from CP. These results underscore the promise of miRNAs as biomarkers and therapeutic targets, warranting further validation to improve diagnostic approaches and patient outcomes.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201410"},"PeriodicalIF":0.5,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143852268","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":"Micro RNA-423 rs6505162 C>A polymorphism in colorectal cancer: Relation to susceptibility and metastasis","authors":"Shimaa R. Hendawy ,&nbsp;Nermin A. Alamer ,&nbsp;E.M. Abohashem ,&nbsp;Hosam Hamed ,&nbsp;Nawal A. Ghareeb","doi":"10.1016/j.humgen.2025.201409","DOIUrl":"10.1016/j.humgen.2025.201409","url":null,"abstract":"<div><h3>Background</h3><div>Colorectal cancer (CRC) is the second most deadly cancer. There is an urgent need to identify biomarkers for early diagnosis and prognosis of the disease. Micro-RNAs (miRNAs) are molecules that regulate gene expression at the post-transcriptional level. The last decade had witnessed tremendous progress in the field of miRNAs and cancer including CRC. The purpose of this research was to investigate the potential association of the micro-RNA −423 rs6505162 gene variant with susceptibility to colorectal cancer in a cohort of Egyptian patients.</div></div><div><h3>Methods</h3><div>The real-time polymerase chain reaction (real-time PCR) method was used to genotype 120 colorectal carcinoma patients and 120 matched healthy controls.</div></div><div><h3>Results</h3><div>Compared with CC homozygote, the AA homozygote and the combination of AC and AA genotype exhibited a significantly decreased risk of colorectal carcinoma (odds ratio = <strong>0.298</strong>, <em>p</em>-value = <strong>0.033</strong>, 95 %CI (<strong>0.098–0.910)</strong>; odds ratio = <strong>0.558</strong>, p-value = <strong>0.027,</strong> 95 %CI (<strong>0.333–0.936)</strong>, correspondingly). Furthermore, CC genotype showed a significant association with the frequency of lymph node infiltration and metastasis in patients compared to the AC + AA group.</div></div><div><h3>Conclusion</h3><div>Our study suggested that miR-423 rs6505162 C &gt; A polymorphism may serve as a protective factor in the development of colorectal cancer in Egyptian patients and miR-423 rs6505162 C &gt; A genotype showed significant association with metastasis in CRC patients.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201409"},"PeriodicalIF":0.5,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143867743","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":"Employing an integrated bioinformatics and systems biology approach to uncover key genes and drug targets for ovarian cancer","authors":"Shahzadi Noreen ,&nbsp;Aamir Shahzad ,&nbsp;Safa Akhtar ,&nbsp;Farah Deeba","doi":"10.1016/j.humgen.2025.201408","DOIUrl":"10.1016/j.humgen.2025.201408","url":null,"abstract":"<div><div>Ovarian cancer (OC) is a common disease in females lacking precise diagnostic and therapeutic biomarkers. The access to high-yield genomic data and availability of advanced Bioinformatics tools permit to envisage disease sensitive biomarkers and their drug targets that could be re-modeled for better patient outcomes. In this study, we analyzed three GEO datasets: <span><span>GSE54388</span><svg><path></path></svg></span>, <span><span>GSE36668</span><svg><path></path></svg></span>, and <span><span>GSE18520</span><svg><path></path></svg></span> including 20 normal and 77 OC samples using GEO2R to identify differentially expressed genes (DEGs) in OC. Functional annotation and KEGG pathway analysis of DEGs were performed using DAVID and FunRich tools. Protein-protein interactions were extracted via GeneMANIA and analyzed using Cytoscape. We identified 115 DEGs, including 84 upregulated and 31 downregulated genes. Key biological processes of OC DEGs were signal transduction, cell growth and maintenance, cell communication, cell-cell adhesion, and apoptosis. Enriched KEGG pathways (<em>P</em>-value<em>&lt;</em>0.05) included focal adhesion, P13K-Akt, JAK-STAT, Wnt-signaling, and pathways in cancer. Module analysis identified six seed/hub genes, with five genes viz. PDGFRA, DIRAS3, HHIP, PROK1, and MTUS1 showed significant impact on the overall survival of OC patients (P-value &lt;0.05). Additionally, DIRAS3, and MTUS1 were found to be hypermethylated in ovarian cancer (OC). Treatment with Valproic acid (2-propylpentanoic acid) reactivates these genes by reversing their epigenetic silencing. These results suggest that DIRAS3, and MTUS1 may serve as potential OC biomarkers, while Valproic acid could be a promising therapeutic agent for targeting their epigenetic modifications in OC.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201408"},"PeriodicalIF":0.5,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143860066","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 prognostic value of the miR-106b ∼ 25 cluster in chronic lymphocytic leukemia","authors":"Reham Salah El Zaiat ,&nbsp;Mohamed Abd El-Rehim Soliman ,&nbsp;Iman Aly Ahmedy ,&nbsp;Alshimaa Mahmoud Alhanafy ,&nbsp;Doaa Elsayed Genena ,&nbsp;Manal Monir Mansour","doi":"10.1016/j.humgen.2025.201407","DOIUrl":"10.1016/j.humgen.2025.201407","url":null,"abstract":"<div><h3>Background</h3><div>Chronic lymphocytic leukemia (CLL) is the most frequent leukemia in adults, with a very unpredictable clinical progression. Several prognostic markers and scoring systems have been established to aid in clinical decision and appropriate treatment. There is a growing significance to microRNAs (miRNAs) and their potential role in the pathophysiology and clinical outcome of CLL. Herein, we evaluated the effect of the miR-106b ∼ 25 cluster, including miR-106b, miR-93, and miR-25, on disease progression and survival in CLL patients.</div></div><div><h3>Patients and methods</h3><div>Newly diagnosed CLL patients (<em>n</em> = 50) and healthy controls (n = 50) were recruited in this study. MiR-106b, miR-93, and miR-25 expression was detected by reverse transcription polymerase chain reaction.</div></div><div><h3>Results</h3><div>MiR-106b, miR-93, and miR-25 were highly expressed in CLL patients versus controls. There was a strong relationship between the studied miRNAs and conventional prognostic markers. Their levels were significantly elevated in patients classified as high-risk groups, with positive CD38, 17p deletion, and unmutated immunoglobulin heavy-chain gene variable region (IgVH). MiR-106b and miR-93 were negatively correlated with overall survival.</div></div><div><h3>Conclusion</h3><div>MiR-106b, miR-93, and miR-25 demonstrate overexpression in CLL. Their expression levels influence clinical outcome and may be useful prognostic biomarkers in CLL.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201407"},"PeriodicalIF":0.5,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143852269","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":"Differential expression levels of miR-125a, miR-125b, and miR-let-7f in sputum and plasma as biomarkers for tuberculosis","authors":"Ali Nour Neamatollahi ,&nbsp;Aria S. Kazemi ,&nbsp;Samira Tarashi ,&nbsp;Nayereh Ebrahimzadeh ,&nbsp;Farzam Vaziri ,&nbsp;Shahin Pourazar Dizaji ,&nbsp;Abolfazl Fateh ,&nbsp;Seyed Davar Siadat ,&nbsp;Saeid Bouzari","doi":"10.1016/j.humgen.2025.201406","DOIUrl":"10.1016/j.humgen.2025.201406","url":null,"abstract":"<div><h3>Introduction</h3><div>Tuberculosis (TB) has long presented significant epidemiological challenges, and its control remains a complex issue. In recent years, the critical role of small RNAs, particularly microRNAs (miRNAs), in TB infection has gained considerable attention. These small RNAs are known for their stability in biological fluids, which underscores their potential as reliable biomarkers for disease diagnosis and monitoring. This study specifically evaluated the differential expression levels of key miRNAs—miR-125b, miR-125a, and miR-let-7—in TB patients. By examining their expression profiles, we aimed to assess the diagnostic efficiency of these small RNAs, highlighting their significance in the context of TB management.</div></div><div><h3>Methodology</h3><div>Eighty cases of active pulmonary TB and eighty matched controls (matched by age, race, and sex) were recruited from the Pulmonary Department of the Pasteur Institute of Iran. Sputum and serum samples were collected simultaneously from all participants. Total RNA was extracted for the analysis of differentially expressed miRNAs using reverse transcription-PCR (RT-PCR). The expression levels of each microRNA were compared between individuals, and binary logistic regression, along with receiver operating characteristic (ROC) curve analysis, was employed to assess their diagnostic potential.</div></div><div><h3>Results</h3><div>During TB infection, these miRNAs influence immune responses. miR-125b was overexpressed in both sputum and serum samples from TB patients (<em>P</em> = 0.08; <em>P</em> &lt; 0.0001). In contrast, both sputum and serum samples showed downregulation of miR-125a (<em>P</em> &lt; 0.0001; <em>P</em> &lt; 0.0001) and miR-let-7f (<em>P</em> &lt; 0.0001; <em>P</em> = 0.008). Serum levels of miR-let-7f (sensitivity = 85 %; AUC = 0.886) and miR-125a (sensitivity = 83 %; AUC = 0.894) effectively predicted TB infection. However, sputum levels of miR-let-7f and miR-125a did not significantly differ between TB cases and controls, rendering them ineffective as biomarkers. Serum miR-125b levels were significantly higher in TB cases (sensitivity = 70 %; AUC = 0.791), while sputum levels exhibited minimal elevation and poor performance indices.</div></div><div><h3>Conclusion</h3><div>Overexpression of <em>miR-125b</em> was observed in tuberculosis samples, while downregulation of <em>miR-125a</em> and <em>miR-let-7f</em> was confirmed. Significant differences in <em>miR-let-7f</em> and miR-125a expression were found in patients, underscoring their diagnostic potential. Serum samples proved to be more effective than sputum samples for biomarker assessment, suggesting that miRNAs could serve as valuable tools for rapid tuberculosis detection based on their diagnostic performance. Overall, identifying miRNA profiles under different conditions could pave the way for novel biomarkers in tuberculosis diagnosis, monitoring, and therapy.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201406"},"PeriodicalIF":0.5,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143843746","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 gene signatures and transcription factors associated with colorectal cancer through computational based approach","authors":"Shoufia Jabeen Mubarak,&nbsp;Hemamalini Vedagiri","doi":"10.1016/j.humgen.2025.201405","DOIUrl":"10.1016/j.humgen.2025.201405","url":null,"abstract":"<div><div>Colorectal cancer (CRC), including colon and rectal cancer, is the most widespread malignant tumor worldwide. Besides, different staging groups in CRC complicate the diagnosis of disease conditions. This work explicates the idea of identifying the potential mRNA-miRNA-lncRNA as a prognostic signature for 4 stages of CRC. Datasets of <span><span>GSE41011</span><svg><path></path></svg></span> (mRNA), <span><span>GSE39833</span><svg><path></path></svg></span>(miRNA) and <span><span>GSE196006</span><svg><path></path></svg></span> (lncRNA) were chosen. In total, 62 mRNAs, 157 mRNAs as micro-RNA targets, and 101 mRNAs for lncRNAs were retrieved. Prominent genes were identified in stages I and II as RGMB, MND1, CBX2, GDPD5, DUSP15, SPC25 and SPP1. Genes specific for stages III and IV were RNF183, PRMT3, NOTCH3, CPNE7,GDPD5, DSCC1, KLHL35 and SPC25. Genes that play a role in all stages of CRC are PRMT3, SERPINB7, RORA, ARHGAP30, BUB1, CXCL3, EGR1, PXN, PTGES2-AS1, LINC03040 and hsa-miR-126, hsa-miR-1228.In addition, regulatory actions were also related to CRC progression. Moreover, we applied python weighted gene co-expression network analysis to further confirm the related gene expressions significantly altered in different stages of CRC. These correlated genes predicted 680,194 and 937 transcription factors (TFs) from mRNA, miRNA and lncRNA datasets. Subsequently, 17 TFs were revealed as a major interacting target with specific stages namely stage I - JUN, NR3C1, FOS, ESR1, GATA3; stage II - NANOG, GATA2; stage III - MYC, CEBPA, MYCN, POU5F1,SOX17, OTX2, MYB, TFAP2C, PBX1 and stage IV-TAL1.Taken to this factor, these findings will act as potent candidate gene signatures for therapeutic intervention at an early stage of CRC stage prediction.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201405"},"PeriodicalIF":0.5,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143843747","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 the interconnected pathobiology between Crohn's disease, ulcerative colitis and colorectal cancer through gene expression, pathway analysis and immune profiling","authors":"Sonia Chadha","doi":"10.1016/j.humgen.2025.201404","DOIUrl":"10.1016/j.humgen.2025.201404","url":null,"abstract":"<div><div>Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), share immune dysregulation mechanisms with colorectal cancer (CRC). This study analyzed gene expression datasets (GSE75214: 74 UC, 8 CD, 11 controls; GSE110224: 17 CRC, matched controls) to identify differentially expressed genes (DEGs), enriched pathways, and hub genes. Gene Ontology and pathway analyses highlighted inflammatory response, chemokine activity, and cytokine signalling. Immune infiltration analysis (CIBERSORTx) revealed distinct immune cell patterns, including increased mast cells, M1 macrophages, and neutrophils in CD, UC, and CRC, with activated dendritic cells present only in CD and UC. Protein-protein interaction (PPI) analysis identified hub genes common to CD, UC, and CRC (e.g., IL1B, CXCL8, CD44), which correlated with immune infiltration. GEPIA validation confirmed their relevance in CRC. These findings suggest a regulatory cross talk between gene expression and immune modulation, shedding light on the molecular mechanisms underlying IBD-associated CRC. The study provides potential biomarkers and therapeutic targets for early diagnosis and intervention.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201404"},"PeriodicalIF":0.5,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143860065","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 association of SDF-1 and CXCR4 gene polymorphisms with rheumatoid arthritis susceptibility in the Iranian population","authors":"Shiva Aghaei ,&nbsp;Mohammad Hossein Sahami-Fard ,&nbsp;Saba Gharibi ,&nbsp;Laleh Feizi ,&nbsp;Ehsan Farashahi-Yazd ,&nbsp;Mahdi Mahmoudi ,&nbsp;Ensieh Shahvazian ,&nbsp;Mohammad Bagher Mahmoudi ,&nbsp;Haniyeh Nikkhah ,&nbsp;Massoomeh Akhlaghi","doi":"10.1016/j.humgen.2025.201402","DOIUrl":"10.1016/j.humgen.2025.201402","url":null,"abstract":"<div><h3>Background</h3><div>Stromal cell-derived factor-1 (<em>SDF-1</em>) and <em>CXC</em> motif chemokine receptor 4 (<em>CXCR4</em>) play critical roles in the pathogenesis of rheumatoid arthritis (RA) by regulating immune cell migration and inflammatory responses. This study investigates the association of <em>SDF-1</em> and <em>CXCR4</em> gene polymorphisms with the risk of developing RA in an Iranian population.</div></div><div><h3>Methods</h3><div>The study comprised 93 patients with RA and 98 gender- and age-matched healthy controls. The genotypes of <em>SDF-1</em> G801A (rs1801157) and <em>CXCR4</em> C138T (rs2228014) were detected using the restriction fragment length polymorphism (RFLP) and amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), respectively.</div></div><div><h3>Results</h3><div>A significant reduction in susceptibility to RA was associated with the <em>SDF-1</em> G801A polymorphism in homozygous individuals (OR = 0.383; 95 % CI = 0.165–0.888) and in recessive models (OR = 0.418; 95 % CI = 0.185–0.946). In contrast, the <em>CXCR4</em> C138T variant was linked to an increased susceptibility to RA in the recessive model (OR = 2.557; 95 % CI = 1.024–6.384). Therefore, the <em>SDF-1</em> polymorphism may confer a protective effect against RA, while the <em>CXCR4</em> polymorphism may heighten the risk of developing the condition.</div></div><div><h3>Conclusion</h3><div>This is the first study in an Iranian population demonstrating these associations. Our results indicate that genetic variations in <em>SDF-1</em> and <em>CXCR4</em> may significantly influence RA susceptibility.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201402"},"PeriodicalIF":0.5,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143828615","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":"Evaluating the association of CYP17 and SRD5A2 gene polymorphisms with prostate cancer risk: A case-control study in the male population of Jammu, India","authors":"Sourabh Sharma ,&nbsp;Rahul Gupta ,&nbsp;Jyotdeep Kour Raina ,&nbsp;Tanishq Kour ,&nbsp;Deepu Tiwari ,&nbsp;Ravi Sharma ,&nbsp;Parvinder Kumar ,&nbsp;Rakesh Kumar Panjaliya","doi":"10.1016/j.humgen.2025.201403","DOIUrl":"10.1016/j.humgen.2025.201403","url":null,"abstract":"<div><div>Prostate cancer (CaP) is one of the predominant malignancies affecting the male population, with genetic variations in steroid metabolism pathways potentially modulating disease susceptibility. This case-control investigation examined the potential correlation between CYP-17-<em>Msp</em>A1I and SRD5A2-<em>Rsa</em>I (V89L variant) polymorphisms and CaP risk within the male demographic of the Jammu region in the Jammu &amp; Kashmir Union Territory of India. We genotyped these two polymorphisms in 120 prostate cancer cases and 200 age-matched healthy controls. Statistical analysis revealed a significant association between CYP-17-MspA1I polymorphism and CaP susceptibility, whereas the SRD5A2-RsaI (V89L variant) demonstrated no statistically significant correlation. The co-dominant model (A1A2 vs. A1A1; A2A2 vs. A1A1) and the dominant model (A1A2 + A2A2 vs. A1A1) of CYP-17 exhibited significant association with increased CaP risk. Notably, carriers of the A2 allele of the CYP-17 gene demonstrated a 1.6-fold elevated risk of developing CaP (<em>p</em> = 0.006). These findings contribute to our understanding of genetic susceptibility factors in prostate cancer, suggesting that CYP-17-<em>Msp</em>A1I, but not SRD5A2-<em>Rsa</em>I (V89L variant), may serve as a potential genetic marker for CaP risk assessment in this population. Further large-scale studies across diverse ethnic populations are warranted to validate these findings and elucidate the role of steroid metabolism-related genetic variants in CaP predisposition.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"44 ","pages":"Article 201403"},"PeriodicalIF":0.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143783125","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}