Biochemical Genetics最新文献

{"title":"Dihuang Yinzi Ameliorates Cognitive Impairments and Inhibits Ferroptosis in APP/PS1 Mice.","authors":"Fang Xie, Lan Zhou, Miao Yu","doi":"10.1007/s10528-025-11246-5","DOIUrl":"https://doi.org/10.1007/s10528-025-11246-5","url":null,"abstract":"<p><p>Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline and neuronal loss. Ferroptosis, a form of regulated cell death driven by iron overload and lipid peroxidation, has been implicated in AD pathology. DiHuangYinZi (DHYZ), a traditional Chinese herbal remedy, has been suggested to ameliorate cognitive impairments and reduce ferroptosis in AD models. This study aimed to investigate the effects of DHYZ on learning, memory, ferroptosis markers, and neuronal integrity in APP/PS1 transgenic mice. Six-month-old APP/PS1 transgenic mice were treated with DHYZ or donepezil for four weeks. Learning and memory functions were evaluated using the Morris Water Maze (MWM) and open field test. Neuronal integrity was assessed through Hematoxylin and Eosin (H&E) and Nissl staining. Ferroptosis markers, including superoxide dismutase (SOD), malondialdehyde (MDA), glutathione (GSH), and the GSH/GSSG ratio, were measured in hippocampal tissues. Ferroptosis-related protein expressions, such as ferritin, DMT1, FPN1, Nrf2, and GPX4, were analyzed using Western blot. DHYZ treatment significantly improved learning and memory deficits in APP/PS1 mice, as evidenced by reduced escape latency and increased platform crossings in the MWM. DHYZ also reversed anxiety-like behavior in the open field test. Histological analysis showed that DHYZ treatment restored neuronal integrity, as indicated by better cellular arrangement and staining compared to untreated APP/PS1 mice. DHYZ inhibited ferroptosis by reducing iron overload, increasing SOD and GSH levels, and normalizing the GSH/GSSG ratio. Moreover, DHYZ modulated the expression of ferroptosis-related proteins, restoring FPN1 levels while reducing ferritin and DMT1 expressions. Nrf2 and GPX4 levels, which were reduced in APP/PS1 mice, were significantly increased after DHYZ treatment. DHYZ effectively improved cognitive deficits, inhibited ferroptosis, and restored neuronal integrity in APP/PS1 mice. These findings suggest that DHYZ may have therapeutic potential for AD by targeting ferroptosis and regulating iron metabolism.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145038893","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":"The Complete Chloroplast Genome of Tree Fern Cyathea delgadii and Its Comparison to Other Cyatheales.","authors":"Geferson Fernando Metz, Tiego De la Vega Ferreira, Rafael De la Vega Ferreira, Cristiane Barbosa D'Oliveira Matielo, Rafael Plá Matielo Lemos, Filipe de Carvalho Victoria","doi":"10.1007/s10528-025-11248-3","DOIUrl":"https://doi.org/10.1007/s10528-025-11248-3","url":null,"abstract":"<p><p>The chloroplast (cp) genome of the tree fern Cyathea delgadii Pohl ex Sternb. was assembled and annotated to investigate its structure and evolution within the Cyatheales order. The genome, sequenced using Oxford Nanopore Technologies, has a total size of 165,248 bp, comprising a large single-copy (LSC) region of 94,738 bp, a small single-copy (SSC) region of 22,012 bp, and two inverted repeat (IR) regions of 24,251 bp each. It contains 89 protein-coding genes, eight rRNAs, and 33 tRNAs. Comparative phylogenomic analyses involving 19 species of Cyatheales have revealed that the cp genome of C. delgadii shares similarities in gene content with other ferns of the Cyatheaceae family; however, it demonstrates variations in both genome size and GC content. Variations in cp genome size were observed across the Cyatheales species, ranging from 154,046 bp in Gymnosphaera denticulata (Baker) Copel to 168,244 bp in Dicksonia squarrosa (G.Forst) SW. Gene content analysis showed that most species have a conserved number of protein-coding genes, rRNAs, and tRNAs, suggesting structural stability. However, Cibotium spp. has a reduced number of protein-coding genes (87), possibly due to gene loss or transfer to the nuclear genome. Phylogenetic analyses using both whole genome and SNP data showed comparable clustering among Alsophila and Gymnosphaera species, while C. delgadii occupied a basal to intermediate position. The overall guanine-cytosine (GC) content of C. delgadii was calculated to be 40.95%, with a significantly higher content of 44.03% observed in the intragenic regions. An analysis of codon usage bias indicated a preference for codons ending with adenine or thymine, which aligns with the genome's adenine-thymine (AT) richness. This study provides valuable genomic resources and insights into the evolution of Cyatheales cp genomes, emphasizing both conserved features and specific adaptations within this group of ferns.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145038899","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":"Exploring Differentially Expressed Genes and Understanding the Underlying Mechanisms in Glioblastoma.","authors":"Didem Seven, Arif Ekici, Steffen Uebe, Bilge Bilgiç, Altay Sencer, Aydın Aydoseli, Andre Reis, Nur Buyru","doi":"10.1007/s10528-025-11241-w","DOIUrl":"https://doi.org/10.1007/s10528-025-11241-w","url":null,"abstract":"<p><p>Glioblastoma is the most aggressive and malignant tumor of the central nervous system. Current treatment options, including surgical excision, radiotherapy, and chemotherapy, have Limited efficacy, with a median survival rate of approximately 15 months. To develop novel therapeutics, it is crucial to understand the underlying molecular mechanisms driving glioblastoma. However, obtaining healthy tissue counterparts for comparison is often challenging due to the critical nature of the tissues and the tumor's location. This study aimed to compare the transcriptomic profiles of glioblastoma tissues with those of adjacent healthy tissues, to elucidate key pathways and identify upstream regulators involved in glioblastoma pathogenesis. Twenty-six pairs of glioblastoma tissues and their adjacent healthy tissues were obtained during surgery. The tumor and healthy origins were confirmed through histopathological examination. Twelve pairs were analyzed via transcriptome analysis by using the Ion GeneStudio S5 system. Ingenuity pathway analysis was performed to identify the associated pathways and upstream regulators. Selected 51 upstream regulators were analyzed using qRT-PCR. Three pairs were excluded from the RNA-sequencing (RNA-seq) analysis due to similarities between normal and tumor tissues. The dysregulated pathways were primarily associated with neuronal connections and neurotransmitter pathways. The expression patterns of upstream regulators were consistent with RNA-seq results. Molecular changes linked to the initiation of tumors can begin at an early stage, potentially preceding the appearance of clinical symptoms. The dysregulated pathways were particularly associated with specific brain tissue types. The expression of upstream regulators was consistent across both methods; however, their functional roles need further investigation.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145032543","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":"Upregulation of Hsa_circ_0077007 Expression is Used for Prognosis and Targeted Therapy of Colorectal Cancer.","authors":"Xiaoyan Zhang, Junjie Lu","doi":"10.1007/s10528-025-11244-7","DOIUrl":"https://doi.org/10.1007/s10528-025-11244-7","url":null,"abstract":"<p><p>To evaluate the expression of hsa_circ_0077007 in the serum of colorectal cancer (CRC) patients and offer a foundational theory for the prognosis of CRC. The present study focuses on investigating the biological function and therapeutic target of hsa_circ_0077007 in colorectal cancer CRC. Retrieve the GEO database and use the GEO2R tool to analyze the GSE dataset (GSE223001 and GSE159669) to obtain aberrantly expressed circRNAs. Serum hsa_circ_0077007 expression was measured by qRT-PCR in 107 CRC patients. Kaplan-Meier curve was used to analyze the repercussions of hsa_circ_0077007 expression on overall survival and prognosis. After the knockout of hsa_circ_0077007, the biological cellular functions of CRC were characterized. Finally, the downstream molecular expression mechanism of hsa_circ_0077007 was further explored. Hsa_circ_0077007 was among the abnormal circRNAs in GSE223001 and GSE159669. Compared to normal controls, CRC patients exhibited elevated levels of hsa_circ_0077007 expression in their serum. Additionally, the expression levels of hsa_circ_0077007 were significantly increased across four distinct CRC cellular lines, especially SW620 and LoVo cellular lines. Furthermore, high levels of hsa_circ_0077007 expression were associated with a reduced overall survival rate. In vitro, loss-of-function assays for hsa_circ_0077007 resulted in a marked reduction in cell proliferation, invasion, and migration, accompanied by a boost in cell apoptosis. Hsa_circ_0077007 can sponge miR-383-5p, and then inhibit the expression of miR-383-5p. High expression of hsa_circ_0077007 is indicative of shorter survival rates among CRC patients. The hsa_circ_0077007 has been demonstrated to enhance cellular proliferation, invasion, and migration, while concurrently inhibiting apoptosis.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145022538","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":"Exploring EZH2-Linked lncRNAs in Gastric Cancer: Insights from Sequencing Data and Gene Modulation.","authors":"Ali Masoudi Kazemabad, Reza Safaralizadeh, Mehdi Haghi, Mohammad Mahdi Forghanifard","doi":"10.1007/s10528-025-11245-6","DOIUrl":"https://doi.org/10.1007/s10528-025-11245-6","url":null,"abstract":"<p><p>Gastric cancer (GC) is one of the leading causes of cancer-related deaths globally. Enhancer of zeste homolog 2 (EZH2), a methyl-transferase and master transcriptional regulator frequently overexpresses in a variety of malignancies. Long non-coding RNAs (lncRNAs) play a significant role in regulating gene expression and are intricately involved in the EZH2 oncogenic regulatory network. We aimed in this study to investigate the expression of EZH2-associated lncRNAs and their probable regulatory role in GC progression. RNA-seq and miRNA-seq data from 375 tumor and 32 normal samples were retrieved from the TCGA database. Differential expression and correlation analyses were performed to identify EZH2-associated lncRNAs. A competing endogenous RNA (ceRNA) network comprising lncRNAs, miRNAs, and mRNAs was constructed and visualized. Functional genomics analysis including EZH2 knockdown and induced overexpression experiments were carried out in AGS and MKN-45 GC cell lines to validate the expression of selected lncRNAs using RT-qPCR. EZH2-correlated analysis revealed 16 upregulated and 8 downregulated lncRNAs with significant associations. EZH2 expression modulation studies confirmed that expression levels of lncRNAs including PVT1, MNX1-AS1, AC103702.2, PCAT7, LINC01235, LINC02086, MIR99AHG, and MAGI2-AS3 were regulated by EZH2 in GC cells. EZH2 modulates the expression of several key lncRNAs associated with gastric cancer progression, suggesting that the EZH2/lncRNA axis could serve as a potential therapeutic target. Targeting this axis may open new avenues for influencing critical molecular pathways involved in GC development.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145005734","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":"Cuproptosis-Related Gene FDX1 Induces Malignant Progression and Immune Suppression in Triple-Negative Breast Cancer.","authors":"Haohang Sun, Qi Chen, Xiwei Zhang, Mengze Chen, Ji Dai, Meidi Yan","doi":"10.1007/s10528-025-11242-9","DOIUrl":"https://doi.org/10.1007/s10528-025-11242-9","url":null,"abstract":"<p><p>Triple-negative breast cancer (TNBC), a particularly aggressive cancer, significantly menaces women's health. Recently, a novel form of cell death known as cuproptosis has been identified, with the key gene FDX1 emerging as a potential oncogenic factor. We analyzed the heterogeneity of breast cancer (BC) epithelial cells using available single-cell RNA sequencing (scRNA-seq) datasets. We developed knockdown cell lines in vitro and verified the knockdown efficiency with qPCR. The malignant phenotypes of the cells were assessed through cell counting kit-8, colony formation, Transwell, and scratch healing assays. We also co-cultured the cells with CD8⁺ T cells and evaluated their activation using Transwell, CFSE, lactate dehydrogenase release assay, and enzyme-linked immunosorbent assay. IHC analysis was conducted to reveal the impact of FDX1 on tumor growth in mice. Based on scRNA-seq data, we discovered that in TNBC, epithelial cells were more abundant, and T-cell infiltration was less frequent compared to other subtypes of BC. FDX1 + epithelial cells, which are associated with cuproptosis, were highly enriched in TNBC. The expression of FDX1, a key gene in cuproptosis, upregulated in these cells. This upregulation is essential for sustaining the growth, invasion, and migration of TNBC cells. Co-culture experiments revealed that FDX1 expression could modulate the activation and cytotoxicity of T cells. Tumor growth in mice was largely curbed by the knockdown of FDX1 expression. In TNBC, FDX1 expression aids in the survival and proliferation of cancer cells while dampening the immune response of CD8⁺ T cells.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144999356","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":"Correction: LncRNA XIST Protects Against Polycystic Ovary Syndrome via the Regulation of miR-212-3p/RASA1 Axis.","authors":"Xiaomeng Xu, Cheng Yin, Bing Dong, Yuewen Li, Shi Liu, Jun Chen","doi":"10.1007/s10528-025-11218-9","DOIUrl":"https://doi.org/10.1007/s10528-025-11218-9","url":null,"abstract":"","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144991145","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":"Exploring the Integrated Gut-Brain Metabolic Model for ADHD.","authors":"Ezgi Tas, Kutlu O Ulgen","doi":"10.1007/s10528-025-11234-9","DOIUrl":"https://doi.org/10.1007/s10528-025-11234-9","url":null,"abstract":"<p><p>Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental condition marked by hyperactivity, impulsivity, and inattentiveness that are disproportionate to the patient's developmental stage. Individuals with ADHD often experience gastrointestinal (GI) issues, indicating a potential link with the gut microbiome. This study aims to explore how various parameters influence the production and consumption of metabolites in the brain by developing an integrated gut-brain metabolic model, examining the impact of gut microbiota-derived metabolites on the human brain. Genome-scale metabolic models (GEMs), which consider gene-protein-reaction relationships, are utilized to simulate metabolic processes in gut microorganisms. A comprehensive genome-scale metabolic model of the human brain, comprising 812 metabolites, 994 reactions, 671 genes, and 71 metabolic pathways, serves as the healthy brain reference. To mimic an ADHD brain, the gene NOS1 is removed from the healthy model. An integrated gut-brain model is created using a three-compartment approach (gut, blood, and brain). This modeling technique, which accounts for microbial genome-environment interactions and their metabolite interactions with other human organs, helps identify the GI mechanisms underlying ADHD toward enhancing the quality of life for affected individuals. Moreover, understanding the relationship between ADHD, age, gender, and diet can help in developing more effective, personalized approaches to managing ADHD.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938240","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":"Influence of Genotypes and Contrasting Production Environments on Curcuminoids and its Stability in Turmeric (Curcuma longa L.).","authors":"Raghuveer Silaru, Aarthi Sounderarajan, Yuvaraj Kotha Madduri, Prasath Duraisamy","doi":"10.1007/s10528-025-11239-4","DOIUrl":"https://doi.org/10.1007/s10528-025-11239-4","url":null,"abstract":"<p><p>Understanding the genotype × environment interaction (GEI) on the performance and stability of curcuminoids among turmeric genotypes across production environments is essential for selecting suitable genotypes for different production environments. In the present investigation, 21 turmeric genotypes of various geographical locations in India were assessed for curcuminoids (CUR-curcumin, DMC-demethoxycurcumin, and BDMC-bis demethoxycurcumin) under three environmental conditions viz, green house, vertical structures and open field. The analysis of variance indicated significant GEI effects on curcuminoids, underscoring the importance of GEI on genotype performance. In vertical structures, IISR Pragati and Waigon Turmeric were found to be superior for all three curcuminoids. In greenhouse conditions, CIM Pitambar, CO 3, and Acc. 1545 were superior for BDMC, while CIM Pitambar, IISR Prathiba, and IISR Pragati excelled for DMC, and Acc. 1545 for CUR. Under field conditions, Waigon Turmeric recorded higher BDMC and DMC, while Roma, Acc. 1545, and IISR Prathiba had the highest CUR. Our findings revealed that the curcuminoids relative ratio among the genotypes, which grouped into four patterns, was primarily influenced by genotype rather than environment. The promising genotypes for curcuminoids across the production environments were Waigon Turmeric, Rajendra Sonali, Roma, IISR Prathiba, Acc. 1545, NDH 8, IISR Pragati, and CIM Pitambar. Additionally, IISR Pragati for BDMC, Acc. 69/22/5/I3 for DMC, and Rajendra Sonali for CUR exhibited both superior performance and greater stability compared to other genotypes. In the present study, Field conditions, followed by greenhouse conditions, were found to be the best for all three curcuminoid across three production environments. These findings are crucial for extraction industries and farmers to choose the best genotypes and suitable production environments for targeted production of higher curcuminoids in turmeric.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937836","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":"Knockoff-Based Fine Mapping of MS-Associated SNPs in Sardinian Trios.","authors":"Giulia Nicole Baldrighi, Andrea Nova, Claus Thorn Ekstrøm, Maria Luisa Piras, Maria Valeria Saddi, Luisa Bernardinelli, Teresa Fazia","doi":"10.1007/s10528-025-11238-5","DOIUrl":"https://doi.org/10.1007/s10528-025-11238-5","url":null,"abstract":"<p><p>Genetic predisposition plays a key role in autoimmune and complex diseases such as multiple sclerosis (MS). However, identifying the specific variants or genomic regions responsible for disease susceptibility remains a significant challenge. In this study a family-based fine mapping approach was applied to analyze 142 trios, aiming to identify associated genetic variants linked to MS. The targeted genomic region resides within the 17:30,820,506-32,483,270 bp (Ch37/hg19), which includes the protein-coding gene ASIC2, previously implicated in MS and other neurological conditions, with surrounding genes comprising strongly correlated genetic variants to capture the broader signal from the region. Given the high prevalence of MS in Sardinia and the unique genetic characteristics of the Sardinian population, including reduced heterogeneity and extended linkage disequilibrium, we designed our study specifically within this population and focused on family-based data to enhance the power for detecting genetic signals, avoiding false discoveries. Genotype imputation found 2537 variants, which were then analyzed using the knockoff Trio method to identify loci associated with MS susceptibility. We found rs756787 (3'UTR of MYO1D) increased disease risk (OR 1.57, 95% CI [1.07-2.29], p = 0.02), while rs56175840 (intronic ASIC2) showed a protective effect (OR 0.17, 95% CI [0.04-0.74], p = 0.02), demonstrating the power of knockoff-based fine mapping in family datasets. Integrating LD-based expression and trait analyses helped reveal how rs756787 correlates with variants affecting genes involved in neurodegeneration and the immune response to Epstein-Barr virus, a known environmental factor implicated in MS pathogenesis. Our study highlights the effectiveness of knockoff-based fine mapping combined with expression-trait integration to identify genetic variants influencing MS risk in the Sardinian population.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937858","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}