Human Gene最新文献

{"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":"2026-01-05","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":"In utero gene therapy: Pioneering diagnostic and therapeutic technologies","authors":"Shalmoli Seth ,&nbsp;Malini Sen ,&nbsp;Souvik Banerjee ,&nbsp;Ritamay Sau ,&nbsp;Somasree Ray","doi":"10.1016/j.humgen.2025.201527","DOIUrl":"10.1016/j.humgen.2025.201527","url":null,"abstract":"<div><div>Advancements in prenatal imaging, molecular diagnostics, and genetic screening have transformed the management of congenital diseases, enabling early identification and treatment in utero. These innovations facilitate medical interventions before clinical symptoms arise, improving outcomes and reducing disease severity. Advanced genetic testing of blood, tissue, and other biological samples, combined with techniques such as fluorescence in situ hybridization and chromosomal microarray analysis, allows precise detection and classification of monogenic, mitochondrial, chromosomal, and multifactorial disorders. Emerging in utero therapies, particularly gene therapy, leverage the fetus's unique developmental properties to provide targeted and minimally invasive treatment for structural and genetic abnormalities. However, key challenges remain, such as ensuring biocompatibility and achieving efficient intracellular transgene delivery. Progress in viral and non-viral delivery systems and advancements in gene editing technologies have shown potential in overcoming these obstacles, paving the way for clinical translation. Nanotechnology further enhances these efforts by providing customizable, stable platforms for stage-specific and tissue-targeted interventions, broadening the scope of successful in utero treatments. Collectively, these advances in prenatal diagnostics and therapeutic strategies present an opportunity to address congenital disorders at their origin, significantly improving longterm health outcomes and quality of life by intervening at the earliest stages of development.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201527"},"PeriodicalIF":0.7,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145925112","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 role of rs10414846, rs10421768, rs855791 and rs4820268 polymorphisms in iron-regulatory genes among Malaysian young adults","authors":"Jin-Rou Liew ,&nbsp;Sing-Yan Looi ,&nbsp;Keat-Wei Loo ,&nbsp;Lai-Kuan Teh","doi":"10.1016/j.humgen.2025.201526","DOIUrl":"10.1016/j.humgen.2025.201526","url":null,"abstract":"<div><div>Genetic variants involved in iron-regulatory pathways are important determinants of individual susceptibility to iron deficiency or anaemia. Genetic determinants including the hepcidin antimicrobial peptide (<em>HAMP</em>) and transmembrane serine protease 6 (<em>TMPRSS6</em>) genes play crucial roles in systemic iron regulation. This study investigated the relationship of four single nucleotide polymorphisms (SNPs) [<em>HAMP</em> rs10414846 (C &gt; T), <em>HAMP</em> rs10421768 (A &gt; G), <em>TMPRSS6</em> rs855791 (A &gt; G) and <em>TMPRSS6</em> rs4820268 (G &gt; A)] with haemoglobin (Hb), plasma hepcidin and serum iron levels among Malaysian young adults. A total of 183 unrelated participants aged 18 to 35 years were recruited. Genotyping was conducted using tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS-PCR). Plasma hepcidin concentration and serum iron levels were detected using a human hepcidin ELISA kit and an iron colorimetric assay, respectively. Statistical analyses were performed with the Kruskal-Wallis and Mann-Whitney <em>U</em> tests, followed by general linear model (GLM) adjustments for covariates. Gene-gene interactions were analysed using the Pearson Chi-square (χ²) test. A significant difference was observed between <em>TMPRSS6</em> rs855791 and plasma hepcidin concentration after adjustment (<em>p</em> = 0.039), where G allele carriers exhibited lower hepcidin concentration compared with AA homozygotes. No significant differences were observed for the other polymorphisms. Linkage disequilibrium (LD) analysis revealed strong intragenic correlations within <em>HAMP</em> and <em>TMPRSS6</em>, but no intergenic association. These findings highlighted <em>TMPRSS6</em>'s regulatory role in iron homeostasis. This study provides the first population-specific evidence among Malaysian young adults, offering baseline genetic data to support future large-scale and personalised anaemia research.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201526"},"PeriodicalIF":0.7,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145839818","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":"Promoter methylation signature of SLC16A11 gene reavels poor prognosis in head and neck squamous cell carcinoma","authors":"Sonali Awasthi ,&nbsp;Tejulal Prasad Chaurasia ,&nbsp;Narendra Verma ,&nbsp;Satakshi Chaturvedi ,&nbsp;Anuradha Kalani ,&nbsp;Sudhir Kumar Awasthi ,&nbsp;Pramod K. Yadav ,&nbsp;Abhijeet Singh ,&nbsp;Gyanendra Singh ,&nbsp;Rajeev Mishra","doi":"10.1016/j.humgen.2025.201525","DOIUrl":"10.1016/j.humgen.2025.201525","url":null,"abstract":"<div><div>Solute carrier (SLC) transporters, which are essential for transporting various metabolites such as carbohydrates, proteins, lipids, and nucleic acids, are often altered in tumor cells to meet their high energy demands. Given the critical role of the SLC transporters in driving metabolism these transporters represent a promising target for cancer therapies and the development of biomarkers to track tumor development and progression. The SLC gene family comprises 14 members, designated SLC16A1 to SLC16A14, which have been implicated in various types of cancer. Their diverse expression patterns are often associated with a poor prognosis across multiple cancers. However, the prognostic significance and mechanisms of the distinct members of the SLC16A gene family in human head and neck squamous cell carcinoma (HNSC) remain unclear. In this study, we explored the SLC16A family members in HNSC using various online genomic databases, including GEPIA2 and TIMER2, to assess the prognostic significance of SLC16A11. Our findings revealed that the expression of the SLC16A11 gene was significantly lower in HNSC tissues compared to normal tissues. We identified that hyper-methylation of the SLC16A11 promoter was associated with decreased expression levels and a poor prognosis in HNSCC, likely due to increased immune infiltration of various immune cells. This study emphasizes the potential of SLC16A11 as a prognostic marker for head and neck squamous cell carcinoma (HNSC) and identifies it as an epigenetically regulated tumor suppressor gene. Overall our research highlights need for further investigation into SLC16A11 as a key metabolic transporter and its potential application in HNSC therapeutics.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201525"},"PeriodicalIF":0.7,"publicationDate":"2025-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145790125","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":"Connection between epithelial-mesenchymal transition and cancer stem cells and the potential therapeutic strategies","authors":"Jingxuan Xu ,&nbsp;Jiaxin Geng ,&nbsp;Jingyuan Ma ,&nbsp;Yaofan Lu ,&nbsp;Fuyuan Ma ,&nbsp;Yuan Qin ,&nbsp;Biao Huang","doi":"10.1016/j.humgen.2025.201524","DOIUrl":"10.1016/j.humgen.2025.201524","url":null,"abstract":"<div><div>Cancer prevalence is on the rise globally. Early detection, targeted treatments, immunotherapies, and routine chemotherapies are vital for cancer management and patient survival extension, yet complete cancer eradication remains a significant challenge. The epithelial-to-mesenchymal transition (EMT) and cancer stem cells (CSCs) are central to cancer cell metastasis, apoptosis resistance, tumor relapse, and drug resistance. This review focuses on the molecular mechanisms of EMT and CSCs, their interdependencies, the implicated signaling cascades, and the function of microRNA (miRNA) in EMT and CSC initiation regulation. EMT can endow cancer cells with mesenchymal characteristics and the capacity to transition into a CSC state; notably, CSCs can also reinforce EMT progression through secreting cytokines like transforming growth factor-β (TGF-β), forming a reciprocal regulatory loop that sustains tumor aggressiveness. These processes are intricately linked to the TGF-β, Wnt, and Notch signaling pathways, as well as miRNA expression. Advancing cancer treatment modalities and pinpointing novel therapeutic targets necessitate deeper exploration of the EMT-CSC connection. Consequently, crafting therapeutic approaches that target EMT or CSCs holds promise for enhancing cancer treatment efficacy.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201524"},"PeriodicalIF":0.7,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145736911","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":"Hippo/YAP Signaling in cataract pathogenesis: Mechanistic insights and emerging therapeutic strategies","authors":"Meraj Khan,&nbsp;Lokesh Verma","doi":"10.1016/j.humgen.2025.201522","DOIUrl":"10.1016/j.humgen.2025.201522","url":null,"abstract":"<div><div>Cataracts represent a primary cause of visual impairment, arising from the opacification of the eye's crystalline lens. These can be categorized etiologically as congenital, age-related, or secondary, and clinically as cortical or nuclear, based on the location of the opacification. The Hippo/YAP signaling pathway is a fundamental cellular mechanism that governs lens epithelial cell (LEC) behavior, and its dysregulation is a key factor in cataract formation. Abnormalities in this pathway disrupt LEC proliferation and differentiation, leading to lens opacification. The effector protein YAP plays a crucial role in lens pathology, including posterior capsule opacification (PCO) and epithelial-mesenchymal transition (EMT). To address this, current research is exploring novel therapies that target the Hippo/YAP pathway to counteract these processes. These innovative approaches include using small molecule inhibitors, such as verteporfin, to disrupt YAP's function, as well as RNA-based therapies that target non-coding RNAs like lncRNA-MIAT to suppress LEC proliferation. Furthermore, gene-editing technologies like CRISPR/Cas9 are being explored to correct genetic defects associated with cataracts, such as mutations in GJA8. These molecularly targeted interventions represent a paradigm shift in cataract management, aiming to prevent the condition and improve patient outcomes. However, thorough validation is necessary to ensure their safety and efficacy for clinical application.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201522"},"PeriodicalIF":0.7,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145790126","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":"2025-12-08","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}

{"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":"2025-12-03","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":"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":"2025-11-29","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":"2025-11-28","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}