Biochemical Genetics最新文献

{"title":"Microsatellite Markers Display High Diversity in Bean Anthracnose Pathogen Colletotrichum lindemuthianum in Kashmir.","authors":"Tabia Fayaz, Aasiya Nabi, Naziya Nabi, Irtifa Lateef, Raja Junaid, Qadrul Nisa, Sehla Khursheed, Adfar Bashir, Zainab Rashid, H Itoo, Rafiq A Shah, Saba Banday, Sajad M Zargar, Imran Khan, M D Shah, Bilal A Padder","doi":"10.1007/s10528-026-11322-4","DOIUrl":"10.1007/s10528-026-11322-4","url":null,"abstract":"<p><p>Common bean (Phaseolus vulgaris) anthracnose, caused by Colletotrichum lindemuthianum affects and decreases its yield substantially. Fifty Simple Sequence Repeat (SSR) markers were used to analyze the genetic and genotypic variation among 36 C. lindemuthianum isolates. Among the 50 SSRs, 24 were polymorphic and amplified 66 alleles. Most of the SSRs had polymorphic information content (PIC) values > 0.30, indicating their strong discriminative competence. Distance based dendrogram analysis and population structure analysis divided 36 C. lindemuthianum isolates into three clusters. Analysis of molecular variance at spatiotemporal levels showed high genetic variation among the populations. The six C. lindemuthianum subpopulations had high Shannon-Wiener indices. The multilocus genotype and genetic diversity indices show that C. lindemuthianum populations in Kashmir are diverse. The three geographic subpopulations of C. lindemuthianum rejected the null hypothesis of linkage equilibrium (p = 0.001). Before this study, all PCR based genetic diversity studies on C. lindemuthianum relied on dominant markers. This study is the first to identify 24 robust SSRs, which can be utilized to elucidate the population structure of the common bean anthracnose pathogen.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"5887-5902"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146040149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of IL1B Gene Polymorphisms (rs1143634 and rs16944) with Schizophrenia in Iranian Patients.","authors":"Shiva Mehrabi, Lily Mirtabatabaei, Siavash Shakerian, Flora Forouzesh, Maryam Razavi, Toktam-Sadat Tavabe-Ghavami, Mahsa Mohammadi-Lapevandani, Yeganeh Ghasemi, Fatemeh Alizadeh","doi":"10.1007/s10528-025-11255-4","DOIUrl":"10.1007/s10528-025-11255-4","url":null,"abstract":"<p><p>Schizophrenia (SCZ) is a deleterious neuropsychological disorder with a worldwide incidence of 1% and unknown etiology. Understanding the role of genetic variants in disease development would enable us to explain the disorder's molecular mechanism and find a more effective prognostic approach. Several studies in various European and East Asian populations have displayed the association of schizophrenia with functional polymorphisms such as rs16944 and rs1143634 that lie within inflammatory pathway genes. This study aimed to evaluate the association of Interleukin-1 beta (IL1B) variants (rs16944, rs1143634) with schizophrenia in the Iranian population for the first time. 565 individuals (240 cases and 325 controls) were recruited. Genotyping was conducted for IL1B single nucleotide polymorphisms (SNPs) (rs16944 and rs1143634) using polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP). In addition, the haplotype analysis was conducted. All statistical analysis was performed using SPSS version 26. Regarding rs1143634 (C > T), T carrier genotypes (CT, TT) compared to CC homozygous genotypes showed a significantly more protective effect (p-value < 0.001). Similarly, concerning the co-dominant model, CT heterozygous genotypes in comparison with homozygous genotypes (CC, TT) illustrated a protective impact regarding schizophrenia (p-value < 0.001). Findings showed a significant difference between cases and healthy controls regarding the rs1143634 (C > T) allele frequency (p-value = 0.025), whereas it determined no considerable difference given rs16944 (p-value = 0.41). Furthermore, in the case of rs16944 (T > C), we found no significant association between case and control groups (p-value = 0.69). Haplotype analysis demonstrated that the C-C (rs1143634-rs16944) haplotype was significantly associated with the risk of schizophrenia (p-value = 0.013). The findings suggest that IL1B rs1143634 (C > T) is significantly associated with SCZ in the Iranian population.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6173-6184"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FBXW7 Inhibited M2 Macrophage Polarization in Endometrial Cancer by Reducing CCL2 Secretion Through Ubiquitination of MYBL2 Subtitle: The Role of FBXW7 on M2 Macrophage Polarization in EC.","authors":"Jing Wu, Xiaomei Zhang, Wei Xu, Xiaojuan Shen","doi":"10.1007/s10528-025-11309-7","DOIUrl":"10.1007/s10528-025-11309-7","url":null,"abstract":"<p><p>Impeding M2 macrophage polarization has been suggested to slow the progression of endometrial cancer (EC). F-box and WD repeat domain containing 7 (FBXW7) reportedly regulates the polarization and migration of macrophages in a multitude of cancers. Our pre-existing bioinformatics predictions showed a negative association between FBXW7 and M2-TAM infiltration in EC. This study aimed to investigate the role of FBXW7 in M2 macrophage polarization in EC by regulating the MYBL2/CCL2 axis. Cancer and adjacent cancerous tissues from patients with EC were collected to detect the differential expression of each factor. CCL2 levels in the cell culture medium were examined using enzyme-linked immunosorbent assay. Immunofluorescence staining was performed to determine the localization of FBXW7 and MYBL2 in EC cells. The number of M2 macrophages marker was determined by flow cytometry. The protein levels of FBXW7, MYBL2, CCL2, CD206, CD163, Arg1, and IL-10 were assessed using western blotting. The ubiquitination level of MYBL2 and the binding relationship between FBXW7 and MYBL2 were verified using co-immunoprecipitation. The effect of FBXW7/MYBL2/CCL2 axis on the malignant progression of EC in vivo was evaluated using tumor xenografts in nude mice. FBXW7 levels were decreased, whereas MYBL2 levels were increased in EC. Overexpression of FBXW7 downregulated CCL2 secretion in EC and inhibited M2 macrophage polarization. FBXW7 promoted the degradation of MYBL2 in a ubiquitination-dependent manner. FBXW7 knockdown inhibited CCL2 secretion by EC cells to restrain M2 macrophage polarization, which was countered by MYBL2 downregulation. In vivo functional assays demonstrated that FBXW7 overexpression significantly suppressed EC xenograft growth and enhanced tumor cell apoptosis. FBXW7 enhanced the ubiquitination and degradation of MYBL2 to reduce CCL2 secretion from EC, which inhibited macrophage polarization to the M2 type.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"5731-5751"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145896130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ERBB2 as a Prognostic Biomarker in Prostate Cancer: Integration of Single-Cell Transcriptomics, Deep Learning, and Immunohistochemical Validation.","authors":"Chen Wang, Li-Jing Zhu, Wei-Bo Mao, Ting Chen, Teng-Fei Gu, Sheng-Ping Hu, Yong-Tao Pan, Guo-Lin Yan, Yun-Peng Dong, Jie Li","doi":"10.1007/s10528-026-11333-1","DOIUrl":"10.1007/s10528-026-11333-1","url":null,"abstract":"<p><p>Biochemical recurrence (BCR) is a critical factor affecting the prognosis of prostate cancer (PCa) patients, while T cell exhaustion and metastatic prostate cancer (mPC)-related genes play significant roles in tumor progression. This study aims to identify key genes associated with BCR by integrating single-cell transcriptomics and deep learning techniques, and to validate their clinical significance. First, we identified highly expressed genes in CD8⁺ T cell exhaustion clusters from single-cell RNA sequencing data (scRNA-seq) of PCa and intersected them with mPC-related genes. Based on these genes, significant prognostic factors were screened using Cox regression analysis, and a deep learning neural network model was constructed to predict the risk of biochemical recurrence in prostate cancer patients. The tumor-infiltrating lymphocyte (TILs) infiltration was predicted by stratifying patients into high- and low-risk groups. ERBB2 was identified as the most predictive gene through model analysis. Subsequently, ERBB2 expression was validated in an independent PCa cohort using immunohistochemistry (IHC), and its association with biochemical recurrence and clinicopathological features was evaluated through survival analysis and statistical methods. The deep learning model demonstrated excellent performance in predicting BCR, with ERBB2 identified as the most important predictive factor. IHC results revealed that patients with high ERBB2 expression had significantly shorter biochemical recurrence-free survival (bRFS) (P < 0.05). Moreover, high ERBB2 expression was significantly associated with higher prostate-specific antigen (PSA) levels, Node-Metastasis (NM) stage, and International Society of Urological Pathology (ISUP) grade (P < 0.05). This study, for the first time, integrates single-cell transcriptomics, deep learning, and IHC to reveal the critical role of ERBB2 in biochemical recurrence of PCa. High ERBB2 expression is not only a potential biomarker for poor prognosis in PCa patients but may also provide a novel target for personalized therapy.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6077-6092"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146211758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Potential Targets in Nonalcoholic Steatohepatitis Based on Bioinformatics Analysis and Machine Learning Strategies.","authors":"Tiansu Lv, Lingling Zhu, Yuan Han, Zhe Cheng, Yutian Cao, Wenhui Zhang, Jiaxuan Huai, Wenlin Ma, Yixian He, Yiran Zhu, Qianhua Yan, Xiqiao Zhou","doi":"10.1007/s10528-026-11321-5","DOIUrl":"10.1007/s10528-026-11321-5","url":null,"abstract":"<p><p>NASH poses a significant threat to human health and is recognized as the leading contributor to HCC. In this study, we leveraged publicly accessible datasets to identify novel differentially expressed genes that may serve as potential targets in NASH or potentially NASH-induced HCC. The publicly available datasets were obtained from the GEO. Differential gene expression analysis and enrichment analysis was performed. Subsequently, WGCNA and PPI network were constructed. Lastly, machine learning was employed to identify key feature genes. Utilizing the integrated GEO database, we identified 446 genes exhibiting differential expression. Enrichment analysis indicated that these genes are predominantly associated with glucose and lipid metabolism and inflammatory processes. Through WGCNA, three modules were identified that demonstrated a significant correlation with NASH. Furthermore, core genes among the differentially expressed genes were extracted via protein and protein interaction analysis. Ultimately, machine learning techniques were employed, leading to the identification of three genes: FosB, Fos, and SOCS3. Notably, FosB exhibited consistent expression across various datasets, demonstrated strong predictive capabilities for NASH, and was associated with improved prognostic outcomes in hepatocellular carcinoma by data from TCGA. Additionally, in vitro immunohistochemistry experiments revealed significant reduction of FosB expression in NASH. Bioinformatics analyses conducted on various datasets, along with in vitro immunohistochemistry experiments, revealed significant downregulation of FosB in NASH. It indicates that FosB plays a critical role in the pathogenesis of NASH, and its expression is associated with the prognosis of patients with HCC. Further experimental studies are required to investigate the potential targeting of FosB in NASH and NASH-induced HCC.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"5903-5926"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146049847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations between VMAT1 Polymorphisms and Obesity.","authors":"Shahryar Azizi, Maryam Dadyar, Solat Eslami, Bashdar Mahmud Hussen, Arezou Sayad, Soudeh Ghafouri-Fard","doi":"10.1007/s10528-025-11250-9","DOIUrl":"10.1007/s10528-025-11250-9","url":null,"abstract":"<p><p>Obesity is a multifactorial disorder with a significant genetic component. Variants within the VMAT1 gene have been proposed to influence susceptibility to obesity. This study aimed to assess the association of two single-nucleotide polymorphisms (SNPs), rs2270637 and rs1390938, within VMAT1 with obesity risk in an Iranian population undergoing sleeve gastrectomy. A number of obese patients selected for sleeve gastrectomy were genotyped for rs2270637 and rs1390938. Genotype and allele frequencies were compared using logistic regression under different genetic models (allelic, co-dominant, and recessive). Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the strength of associations. The rs1390938 SNP showed a significant association with obesity in the allelic model, with the A allele conferring protection against obesity (OR = 0.70, 95% CI 0.55-0.88, P = 0.003). In the co-dominant model, individuals with the AA genotype had a significantly reduced risk of obesity compared to those with the GG genotype (OR = 0.20, 95% CI 0.092-0.43, P = 0.000058). Similarly, in the recessive model, the AA genotype remained protective (OR = 0.21, 95% CI 0.099-0.46, P = 0.000087). The rs2270637 SNP also showed significant associations with obesity in co-dominant and recessive models. The GG genotype was protective compared to the CC genotype (OR = 0.11, 95% CI 0.034-0.41, P = 0.001) and compared to the combined GC + CC genotypes (OR = 0.11, 95% CI 0.034-0.40, P = 0.001). Both rs1390938 and rs2270637 polymorphisms in the VMAT1 gene are significantly associated with obesity risk in the studied Iranian cohort. The findings support the role of VMAT1 as a potential genetic susceptibility locus for obesity.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6163-6172"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145231166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.","authors":"Sheng Yi, Qinle Zhang, Fei Chen, Xunzhao Zhou, Qiang Zhang, Shang Yi, Xiaofei Zhang, Jiale Qian, Linlin Wang, Shujie Zhang, Biyan Chen, Zailong Qin, Jingsi Luo","doi":"10.1007/s10528-026-11323-3","DOIUrl":"10.1007/s10528-026-11323-3","url":null,"abstract":"<p><p>SATB2-associated syndrome (SAS) is a multisystemic disorder characterized by developmental delay, moderate to profound intellectual disability, speech delay and/or absent speech, behavioral issues such as autistic tendencies, agitation or aggressive outbursts, self-injury, impulsivity, hyperactivity, anxiety and sleeping difficulties. Alterations in the SATB2 gene have been identified as pathogenic causes of SAS. No formal clinical diagnostic criteria have been established for SAS, and molecular disruption of SATB2 is necessary to confirm the diagnosis. To investigate the molecular pathogenesis of five sporadic patients with intellectual disability, and to delineate the comprehensive clinical characteristics of SAS patients. Whole-exome sequencing analysis was performed in five unrelated patients, and RNA analysis was employed to validate the impact of genetic variation on aberrant splicing. Five SATB2 variants were identified, three of which were novel, including three frameshift variants, one nonsense variant, and a missense variant resulting in aberrant splicing was verified by RNA analysis. A comparative analysis was conducted between the clinical features of our patients and those reported in the literature. In addition to intellectual disability and impaired speech, abnormalities in palmar creases and postnatal growth delay were highlighted as clinically significant features for the diagnosis of SAS. Language regression, as well as joints and fingers abnormalities were also observed in our cohort. Our findings demonstrate that effective mRNA analysis is helpful for understanding the pathogenic mechanisms of novel variants. This study broadens the genetic and phenotypic spectrum of SAS and enhances our knowledge to facilitate accurate genetic counseling and appropriate treatment options.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"5868-5886"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146040176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methodology for the Analysis of Odorant-Binding Proteins in Asiatic Genetic Groups of Bemisia tabaci.","authors":"M N Rudra Gouda, Sabtharishi Subramanian","doi":"10.1007/s10528-025-11294-x","DOIUrl":"10.1007/s10528-025-11294-x","url":null,"abstract":"<p><p>Insects rely heavily on their olfactory system for crucial behaviours like finding mates, locating food, and avoiding predators. Odorant binding proteins (OBPs) bind to odorant molecules, facilitating their transport to olfactory receptors. Understanding OBP diversity and the genomic landscape is vital for elucidating insect olfaction. Bemisia tabaci, a global invasive pest with significant economic impact, has limited OBP diversity studies across its genetic groups. This research investigates OBPs in B. tabaci Asiatic groups, a major invasive genetic group in Asia, to enhance our knowledge of their olfactory mechanisms and inform targeted pest control strategies. A computational pipeline identified OBPs in B. tabaci Asiatic groups using TBLASTN analysis of annotated genomes and whole-genome data. Unique OBP sequences were verified with BLASTX. Bioinformatics tools analysed gene structure, domain prediction, chromosomal localization, scaffold-wise arrangement, and protein structure. Phylogenetic analyses characterised OBPs and explored evolutionary relationships. We identified 9-10 OBPs in B. tabaci Asiatic groups, expanding our knowledge beyond previously studied genetic groups. Comparative analyses with other Hemipteran species showed similarities and differences in OBP diversity. Functional domain analysis highlighted conserved domains associated with odorant binding and membrane interactions. Variations in signal peptide presence suggested differences in protein stability and ligand-binding capabilities. Genomic organisation analysis revealed non-random OBP gene clustering on specific chromosomes, indicating potential co-regulation and functional relationships. The findings enhance understanding of B. tabaci olfaction and provide insights for targeted pest control strategies.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6125-6142"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145601613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrating RNA-seq and Single-Cell RNA-seq to Uncover Transcriptional Signature of Fibroblasts in Oral Squamous Cell Carcinoma.","authors":"Ning Wen, Liting Gai, Yi Tao, Zhengxuan Shen","doi":"10.1007/s10528-025-11310-0","DOIUrl":"10.1007/s10528-025-11310-0","url":null,"abstract":"","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"5685-5700"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145766659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-omics Analysis Reveals the Prognostic and Therapeutic Value of TGF-β Signaling-related Genes in Idiopathic Pulmonary Fibrosis.","authors":"Chenkun Fu, Xiaoting Jing, Menglin Zhang, Yiju Cheng, Wenting Yang, Xiao Wu, Xiaojuan Chu, Xiaofeng Lu","doi":"10.1007/s10528-026-11325-1","DOIUrl":"10.1007/s10528-026-11325-1","url":null,"abstract":"<p><p>Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease with a survival rate comparable to or worse than that of many cancers. Proper TGF-β signaling is essential for normal lung function, but its disruption plays a key role in pulmonary fibrosis and cancer progression. This study aims to elucidate the role of TGF-β signaling-related genes in the prognosis and treatment of IPF through multi-omics analysis. We obtained datasets from the GEO database and identified differentially expressed genes, followed by enrichment analyses. Core genes were identified using machine learning algorithms. Next, we evaluated the expression of core genes and their predictive ability for IPF, as well as their relationship with lung function and survival time. Then, mendelian randomization revealed core genes causally associated with IPF. Subsequently, pseudotime analysis, cell communication analysis and metabolic analysis were performed using single-cell data. Furthermore, we performed immune infiltration analysis to reveal the immune microenvironment of IPF. Finally, in vivo experiments validated the mRNA expression of the core genes. Two core genes (ACVRL1 and LTBP1) were identified through differential expression analysis and machine learning algorithms. Validation using multiple external datasets confirmed that these core genes exhibit stable expression patterns and have strong predictive ability for IPF patients. Further analysis revealed that the expression of these core genes correlates with lung function and survival time in IPF patients. Mendelian randomization analysis provided evidence of a causal link between ACVRL1 and IPF. Using eQTLGen data, our summary data-based mendelian randomization (SMR) analysis revealed a possible causal link between ACVRL1 and IPF. Similarly, using GTEx eQTL data, our SMR analysis revealed a potential causal link between ACVRL1 and IPF. Furthermore, single-cell data analysis highlighted differences in cell communication and metabolism between ACVRL1 + endothelial cell (EC) and ACVRL1-EC. Finally, RT-qPCR results support the potential role of core genes in IPF. This study provides new perspectives on the development of IPF and may help identify novel therapeutic targets. Further research may reveal how core genes influence cellular function and disease progression, providing novel insights into the intricate mechanisms underlying IPF.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"5927-5958"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146111729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}