Human Gene最新文献

{"title":"Genetic expression of NKX2-5 gene among first trimester pregnancy loss","authors":"Muraleedharan Santhamma Dhanya ,&nbsp;Selvaraj Karthick ,&nbsp;Reba Babu Alex ,&nbsp;Anandhi Dhanavel ,&nbsp;Shaiju Basheer ,&nbsp;Sreeja Sreenivasan ,&nbsp;Rajitha Puthiya Purayil ,&nbsp;Divakaran Dinesh Roy","doi":"10.1016/j.humgen.2025.201439","DOIUrl":"10.1016/j.humgen.2025.201439","url":null,"abstract":"<div><div>First-trimester pregnancy loss is a serious public health problem, affecting both physical and mental well-being. Occurring in 10–15 % of clinically recognized pregnancies, it remains a critical issue in reproductive health. Genetic factors impacting fetal development and maternal inflammatory responses are linked to early pregnancy loss. This case-control study included 120 participants: 60 cases (including maternal samples for evaluating inflammatory markers and their products of conception or terminated fetuses without normal cardiac activity or suspected congenital heart defects for the evaluation of NKX2–5 gene expression) and 60 healthy mothers having one or two live children without any congenital heart defects as controls. Inflammatory markers CRP and IL-6 were measured using ELISA kits. Gene expression of NKX2–5 was quantified by real-time PCR after RNA extraction from products of conception or terminated fetuses, cDNA synthesis, and amplification using specific primers. Relative expression was calculated using the 2^(-ΔΔCt) method. The findings revealed significantly higher CRP and IL-6 levels in cases than controls (<em>p</em> &lt; 0.001) and changes in NKX2–5 expression. The results indicate a significant increase in NKX2–5 expression in products of conception from women with early pregnancy loss compared to those with healthy pregnancies (<em>p</em> &lt; 0.05). Increased maternal levels of TSH were also revealed to be an independent predictor for early abortion (OR = 3.57, <em>p</em> = 0.004). Our findings suggest that NKX2–5 gene deregulation and inflammation in the maternal compartment can play a role in early pregnancy loss as future candidate targets for both diagnostic and treatment intervention.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201439"},"PeriodicalIF":0.5,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144335986","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":"Autophagy protein 5 (ATG5) rs573775 protects Malaysian Malay women from systemic lupus erythematosus","authors":"Hwa Chia Chai,&nbsp;Kek Heng Chua","doi":"10.1016/j.humgen.2025.201435","DOIUrl":"10.1016/j.humgen.2025.201435","url":null,"abstract":"<div><h3>Objective</h3><div>Autophagy is one of the critical cellular processes implicated in the pathogenesis of SLE. Polymorphisms in the autophagy-related genes have been associated with increased susceptibility to SLE, particularly variations in the autophagy protein 5 (<em>ATG5</em>) gene which has been associated with SLE in several populations. This case-control study aimed to investigate the association between polymorphisms in <em>ATG5</em> and SLE in Malaysian population.</div></div><div><h3>Methods</h3><div>Tetra primer amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) was performed to genotype <em>ATG5</em> rs6937876, rs4945747, rs573775, rs2245214 and rs548234 in 233 SLE patients and 224 healthy controls, collected from 2000 to 2015.</div></div><div><h3>Results</h3><div>In the overall Malaysian population, AG genotype (adjusted <em>p</em> = 0.013, OR = 1.327, 95 % CI: 1.040 to 1.695) of rs6937876 were significantly associated with increased SLE susceptibility. The dominant model (AG + AA) (adjusted <em>p</em> = 0.006, OR = 0.671, 95 % CI: 0.464 to 0.972), additive model (adjusted <em>p</em> = 0.005, OR = 0.462, 95 % CI: 0.291 to 0.733), and minor A allele (adjusted <em>p</em> = 0.007, OR = 0.628, 95 % CI: 0.447 to 0.882) of rs573775 significantly associated with Malay population by providing protection against SLE.</div></div><div><h3>Conclusion</h3><div>The SNPs in <em>ATG5</em> seem to not only conferring SLE susceptibility to the Malaysian population but also protect them from SLE. Gene expression of these SNPs and their interactions with upstream or downstream genes and microenvironment in the Malaysian population, especially Malays, is worth further study.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201435"},"PeriodicalIF":0.5,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144471863","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":"A study conducted in breast cancer cells found that (valproic acid) inhibits CIP2A/c-MYC/PI3K/Akt/mTOR signaling molecules and PD-L1","authors":"Elahe Zeinali ,&nbsp;Vahid Bagheri ,&nbsp;Esmaeil Rostami ,&nbsp;Gholamreza Anani Sarab","doi":"10.1016/j.humgen.2025.201437","DOIUrl":"10.1016/j.humgen.2025.201437","url":null,"abstract":"<div><div>Resistant cells significantly undermine the efficacy of breast cancer treatment. CIP2A and PD-L1 are among the major therapeutic challenges in breast cancer, as they are key drivers of drug resistance and immune evasion, respectively. Hence, identifying agents—particularly epigenetic drugs—that can suppress these factors by altering gene expression is of great interest. This study aimed to evaluate the molecular mechanisms and effects of valproic acid (VPA), a histone deacetylase inhibitor, on CIP2A and PD-L1 expression in the MCF-7 breast cancer cell line. VPA inhibited MCF-7 cell proliferation in a dose- and time-dependent manner. Treatment with VPA resulted in downregulation of CIP2A and its downstream signaling molecules c-MYC, PI3K, AKT, and mTOR. Moreover, VPA treatment reduced PD-L1 expression in MCF-7 cells. These findings suggest that VPA may offer a novel approach to addressing challenges associated with CIP2A and PD-L1. Therefore, either as a monotherapy or in combination with existing treatments, VPA could represent a promising strategy for enhancing the efficacy of breast cancer therapy.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201437"},"PeriodicalIF":0.5,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144471865","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":"Systematic identification of molecular biomarkers and drug candidates targeting MAPK3 in multiple sclerosis","authors":"Bilal Khan,&nbsp;Ruqia Sartaj,&nbsp;Muhammad Rahiyab,&nbsp;Syed Shujait Ali,&nbsp;Zahid Hussain,&nbsp;Ishaq Khan,&nbsp;Arshad Iqbal","doi":"10.1016/j.humgen.2025.201436","DOIUrl":"10.1016/j.humgen.2025.201436","url":null,"abstract":"<div><div>Multiple sclerosis (MS) exists as a persistent autoimmune illness affecting the central nervous system because it produces demyelination and injures axons, besides causing CNS neuroinflammation. Research advances into MS pathophysiology have not solved the complexity of treating this condition. The research examined both vital MS-related molecular biomarkers as well as therapeutic possibilities through computational methods. GEO2R analyzed the gene expression dataset <span><span>GSE17393</span><svg><path></path></svg></span>, which reported that MS patients had differentially expressed genes than healthy controls. The biological processes involved in MS became clearer with the help of functional enrichment analyses, which contained both GO and KEGG pathway analysis. The STRING database enabled the construction of a PPI network, followed by hub gene identification through the CytoHubba application. The study revealed MAPK3 as the most influential hub gene essential for MS pathophysiological processes. Scientists used the Robetta server to forecast MAPK3's 3D structure, which they then optimized in Galaxy Refine before carrying out structural quality tests. Lab simulation using PyRx showed that potential medications such as Hypericin, Yibeissine, and Physalin F effectively bind with the MAPK3 protein. Among the compounds, Hypericin achieved the best binding affinity of −10.7 kcal/mol toward MAPK3, as Yibeissine and Physalin F reached −10.0 kcal/mol binding levels. MD simulations tested the stability of all MAPK3-ligand complex structures. The combination of ADME testing demonstrated that Yibeissine possessed ideal drug absorption features with strong blood-brain barrier penetration alongside good gastrointestinal absorption, yet Hypericin showed poor oral availability. The ProTox-II analysis revealed that the substance Hypericin presented major risks for mutation and cancer development, although Physalin F significantly damaged the human immune system. Current research indicates MAPK3 inhibition represents a promising treatment approach for MS, since Yibeissine stands out as the best drug candidate because it possesses an ideal ADME profile and low toxicity risks.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201436"},"PeriodicalIF":0.5,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144299018","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":"Investigation of lithium treatment during pregnancy on miR124 gene expression of offspring rats","authors":"Zeynab Askari ,&nbsp;Parisa Hasanein ,&nbsp;Alishir Haidari ,&nbsp;Seyed Mohsen Saleh ,&nbsp;Saeedeh Askarian","doi":"10.1016/j.humgen.2025.201429","DOIUrl":"10.1016/j.humgen.2025.201429","url":null,"abstract":"<div><div>Lithium, recognized as a mood stabilizer, is widely used in the treatment of bipolar disorder. Discontinuation of this medication during pregnancy can have serious consequences, leading to severe mood fluctuations such as mania or depression in the mother. Despite the advantage effects of lithium, its molecular impacts on neonates are still under investigation. The aim of this study is to examine the expression levels of the miR-124 gene in the offspring of rats whose mothers were exposed to lithium during pregnancy. In this experimental study, female rat received a daily dose of 30 mg/kg of lithium carbonate through their drinking water. The offsprings were divided into control and experimental groups and were maintained until the age of two months. The hippocampus and serum from the offspring were isolated for the analysis of target gene expression. Total RNA was extracted and cDNA was synthesized. The expression of miR-124 was estimated using qRT-PCR, using the ddCt and Pfaffl methods, and compared with the control group. The expression of miR-124 decreased in the hippocampal tissue of neonates whose mothers received lithium during pregnancy, while an increase in miR-124 expression was observed in serum samples. No significant distinction between the two evaluation methods was observed, even though the Pfaffl method claimed greater precision. The increase in miR-124 expression in serum and its decrease in hippocampal tissue may demonstrate complex changes in gene expression regulation and physiological responses, during stress, inflammation or metabolic changes. Concurrent analysis of gene expression in both tissue and serum could provide valuable insights into disease status and the body's biological responses, enabling scientists to gain a better understanding of the treatment process.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201429"},"PeriodicalIF":0.5,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270523","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":"Role of the TLR4 pathway in the development of chronic suppurative otitis media","authors":"Jagadisha Tavarekere Venkataravanappa ,&nbsp;Venkateswarlu Raavi ,&nbsp;Sharath Balakrishna ,&nbsp;Prasad Kothegala Chendrashekaraiah ,&nbsp;Sridevi Prabhakara Gowda ,&nbsp;Ashok Dhayalan ,&nbsp;Arun Kumar Sreeramulu ,&nbsp;Saraswathi Saraswathi ,&nbsp;Austin Richard Surendranath","doi":"10.1016/j.humgen.2025.201433","DOIUrl":"10.1016/j.humgen.2025.201433","url":null,"abstract":"<div><div>Chronic Suppurative Otitis Media (CSOM) is a debilitating chronic ear condition characterized by inflammation and infection in the middle ear. Recent research has shed light on the crucial role of Toll-Like Receptor 4 (TLR4) in mediating inflammation in CSOM and its association with disease pathogenesis. This review explores the role of the TLR4 pathway in CSOM, encompassing its gene expression, single-nucleotide polymorphisms, and inflammatory cytokines. Additionally, we discussed the role of the TLR4 pathway in other chronic inflammatory diseases, providing insights into potential therapeutic targets. While the involvement of TLR4 in CSOM and related conditions is well-documented, there remain substantial gaps in our knowledge of the underlying molecular mechanisms. This review not only highlights the current state of knowledge but also emphasizes the areas for future research in the field of otology and immunology.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201433"},"PeriodicalIF":0.5,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212371","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":"Investigating molecular aspects of SARS-CoV-2 neurological manifestations, a systems biology approach","authors":"Maryam Mozafar ,&nbsp;Seyed Amir Mirmotalebisohi ,&nbsp;Ahmad Reza Shahverdi ,&nbsp;Hakimeh Zali","doi":"10.1016/j.humgen.2025.201430","DOIUrl":"10.1016/j.humgen.2025.201430","url":null,"abstract":"<div><h3>Objectives</h3><div>Amid the COVID-19 pandemic, reported neurological symptoms and potential syndromes such as ischemic stroke, seizure, and encephalitis highlight the neurological impact of SARS-CoV-2. We employed a systems biology approach to analyze omics transcriptional data, exploring the molecular mechanisms underlying neurological complications in COVID-19.</div></div><div><h3>Methods</h3><div>We retrieved post-mortem brain data of COVID-19 patients from the gene expression omnibus (GEO) dataset and constructed protein-protein interaction (PPI) networks for differentially expressed genes (DEGs) in the brain cortex and choroid plexus. Topologically crucial genes were identified, and MCODE clusters were analyzed for functional enrichment using the STRING database. Genes related to neurological symptoms (headache, seizure, stroke, meningitis, encephalitis) were extracted from the Comparative Toxicogenomics Database (CTD), and their associations with MCODE clusters were assessed via Fisher's exact test. Crucial gene interactions with FDA-approved drugs were also investigated.</div></div><div><h3>Results</h3><div>We identified a cluster of heat shock protein (HSP) genes (HSP90AA1, HSPA1A, HSPA1B, HSPB1, HSPH1, HSPA5, DNAJB1, FKBP5) significantly correlated with all neurological manifestations. KEGG pathway enrichment showed associations with immune processes, neurodegenerative diseases (Parkinson's, Alzheimer's, Huntington's), virus-related pathways (Influenza A, Epstein-Barr, Measles), and pathways activated in viral infections. FKBP5, a key Hsp90 co-chaperone, interacts most with drugs that affect the nervous system in our drug-gene network.</div></div><div><h3>Conclusions</h3><div>Shedding light on the molecular mechanisms behind COVID-19 neurological manifestations and possible drugs could pave the way for better managing future neurotrophic viruses.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201430"},"PeriodicalIF":0.5,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144230651","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 synergistic effect of HIF-1α, VEGFA and VEGFR2 gene polymorphisms in the pathogenesis of acute myeloid leukemia","authors":"Mayuri Goswami ,&nbsp;Shantipriya Kakati ,&nbsp;Jina Bhattacharyya ,&nbsp;Natasha Kashyap ,&nbsp;Snigdha Jyoti Das ,&nbsp;Mafidul Islam ,&nbsp;Sujoy Bose ,&nbsp;Purabi Deka Bose","doi":"10.1016/j.humgen.2025.201432","DOIUrl":"10.1016/j.humgen.2025.201432","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aims to analyze polymorphisms and the differential mRNA expression of some hypoxia-angiogenesis pathway genes in acute myeloid leukemia (AML) cases and correlate these findings with disease pathogenesis.</div></div><div><h3>Patients and methods</h3><div>The study included 64 de novo AML cases with mean age of 29.45 ± 16.49 years and sex ratio of 1.46:1.00; along with 64 age and sex-matched controls. With specific standardized primers and Taq polymerase enzyme, the targeted genes were amplified using PCR. Further RFLP analysis was done using specific restriction endonuclease enzymes to detect polymorphisms. Semi-quantitative real-time PCR was performed for gene expression studies at mRNA level.</div></div><div><h3>Results</h3><div>Higher prevalence of CT and TT genotypes of HIF-1α rs11549465 SNP, CA and AA genotypes of VEGFA rs699947 SNP and AT and TT genotypes of VEGFR2 rs1870377 SNP were found in cases as compared to control. The co-occurrence of T allele of HIF-1α rs11549465, A allele of VEGFA rs699947 and T allele of VEGFR2 rs1870377 SNPs were found to be common in cases indicating higher risk of the disease. mRNA expression analysis revealed upregulation of HIF-1α, VEGFA and VEGFR2 by 9.92 ± 7.28, 9.05 ± 5.87 and 2.11 ± 0.48 fold respectively in patients. Significant correlation (<em>p</em> &lt; 0.01) was found between the expression of HIF-1α and VEGFA genes. Correlation analysis between genotypes and mRNA expression profiles detected the role of T allele of HIF-1α rs11549465 SNP, A allele of VEGFA rs699947 SNP and AT genotype of VEGFR2 rs1870377 SNP in the overexpression of respective genes.</div></div><div><h3>Conclusion</h3><div>Synergistic association of T allele of HIF-1α rs11549465, A allele of VEGFA rs699947 and AT genotype of VEGFR2 rs1870377 SNPs have been identified that might promote the pathogenesis of AML.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201432"},"PeriodicalIF":0.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144184404","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 a rare genetic enigma: A father-son duo with alagille syndrome and a novel pathogenic JAG1 variant – Case report and literature review","authors":"Hemlata Wadhwani Bhatia ,&nbsp;Firoz Ahmad ,&nbsp;Sapna Sandal ,&nbsp;Raj Shingala ,&nbsp;Mukesh Kumar ,&nbsp;Amit Yadav ,&nbsp;Anindyajit Banerjee ,&nbsp;Pooja Chaudhary ,&nbsp;Spandan Chaudhary ,&nbsp;Neeraj Arora","doi":"10.1016/j.humgen.2025.201428","DOIUrl":"10.1016/j.humgen.2025.201428","url":null,"abstract":"<div><div>Alagille syndrome (ALGS) is a rare multisystem disorder primarily caused by alterations in the <em>JAG1</em> gene and, less frequently, in <em>NOTCH2</em>. The syndrome exhibits variable phenotypic expression, making diagnosis challenging. We report a novel heterozygous frameshift deletion variant, c.1019del (p.Cys340Serfs*72), in exon 8 of <em>JAG1</em>, identified in a father-son duo. This variant, located within the evolutionarily conserved EGF-like repeat domain, is predicted to be pathogenic based on its absence in population databases, in silico predictions, and clinical correlation. The father exhibited chronic cholestasis, ductal paucity, and atypical ocular findings, while the son displayed dysmorphic facies, skeletal anomalies, and hearing loss. This case highlights distinct phenotypic variations within the same family despite sharing the same <em>JAG1</em> variant. Notably, features such as keratoconus, KF ring, tessellated fundus, hyperemic disc, CTEV, and inner ear anomalies have not been previously documented. It underscores the critical role of deep phenotyping, thorough family history re-evaluation, and early genetic diagnosis in ensuring timely intervention.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201428"},"PeriodicalIF":0.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144514196","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":"Investigating expression pattern of SPATA3-AS1 and SPATA42 lncRNAs in azoospermia","authors":"Nashwah Jabbar Kadhim Muttwaqi,&nbsp;Mohammed Ismael Ibrahim Jebur,&nbsp;Azeez Hasan Saleh Saleh,&nbsp;Reza Safaralizadeh","doi":"10.1016/j.humgen.2025.201431","DOIUrl":"10.1016/j.humgen.2025.201431","url":null,"abstract":"<div><div>Background: A large number of couples throughout the world struggle with the health problems of male infertility. One of the most common reasons for male infertility is the absence of sperm in the semen specimens, resulting in azoospermia. lncRNAs regulate spermatogenic cell development. However, the aberrant expression of lncRNAs linked to the failure of sperm production and their molecular processes is poorly understood. Materials and Methods: A total of 76 Iranian men with azoospermia and 36 healthy controls were selected in this case-control study. Blood samples were taken to isolate serum and extract total RNA, which was later used to synthesize cDNA. The qRT-PCR technique was assessed to investigate gene expression of SPATA42 and SPATA3-AS1 lncRNAs in azoospermia. Results: Based on the data, SPATA42 and SPATA3-AS1 appeared to have significantly low expression in azoospermia patients; however, only SPATA42 showed a significant biomarker role. Furthermore, hormonal analysis illustrated that LH and FSH had increased levels in male patients; meanwhile, testosterone levels were decreased. According to Spearman correlation analysis, SPATA42 expression correlated negatively with FSH and LH levels but positively with testosterone levels. For the SPATA3-AS1 gene, however, FSH and testosterone had a negative and positive correlation with the expression level. Conclusion: With low expression levels in serum samples, SPATA42 can have a potential biomarker role in diagnosing azoospermia.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201431"},"PeriodicalIF":0.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144203171","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}