Biomedical subjects

Yue Zhang

Publications and source records attributed to Yue Zhang.

At least 19 recordsLinked to original sources

PubMed2026

Unraveling epigenetic and genetic variations in response to cold stress in two lotus ecotypes.

Genetic variations accumulate over long evolutionary timescales, whereas epigenetic modifications can arise rapidly and be inherited across generations. However, the interplay between genetic and epigenetic variations in shaping ecotype-specific phenotypic plasticity remains elusive. Focusing on two lotus ecotypes that evolved under distinct winter temperature regions and display divergent annual growth cycles under cold stress, we generated DNA methylation landscapes across three sequence contexts (CG, CHG, and CHH, where H = A, T, or C) and identified single-cytosine methylation polymorphisms (SMPs) and single-nucleotide polymorphisms (SNPs). Interestingly, only CG methylation patterns mirror population-level genetic variations. Using epigenetic genome-wide association analysis, we identified differentially methylated CG sites that are either cis- or trans-regulated by SNP. Notably, we constructed a multifactorial regulatory network centered on the NnMKK4-NnCYCD5 module, linking cold response with cell cycle regulation. Temperature stress experiments conducted on lotus ecotypes and transgenic Arabidopsis (OE-NnMKK4 and OE-NnCYCD5) confirmed that NnMKK4 acts as a cold receptor and that NnCYCD5 promotes cell cycle progression and growth under cold conditions. Collectively, our findings provide novel insights into the co-evolutionary dynamics of epigenetic and genetic variations that are associated with different growth cycles of lotus ecotypes in response to cold stress.

DNA methylation↗

PubMed2026

Dynamic Disentanglement Enables Highly Crystalline Fluorinated Polyimide Films Featuring Superior Dielectric Property and Intrinsic Thermal Conductivity.

The advancement of high-frequency communication and miniaturized electronics necessitates dielectric materials that combine high intrinsic thermal conductivity (λ) with low dielectric loss (Df) to mitigate signal delay and thermal accumulation. Conventional strategies, particularly nanocomposite approaches, often struggle to simultaneously achieve high λ and low Df without compromising processability or mechanical integrity. Herein, a semicrystalline polyimide (TAHQ/TFMB) architecture is initially established by circumventing the amorphous nature of fluorinated systems via rigid-rod backbone design and programmed thermal processing. Subsequently, minor dynamically exchangeable siloxane segments (≤ 1 mol%) act as molecular disentanglement switches, triggering topological rearrangement that promotes the formation of widely distributed crystal nuclei and enables the subsequent development of large-scale crystalline domains, ultimately yielding an enhanced crystallinity exceeding 50%. The optimally designed film with merely 0.25 mol% siloxane exhibits an enhanced in-plane λ of 2.33 W·m-1·K-1 and an ultralow Df of 0.00142 at 10 GHz. This synergy facilitates the first realization of a broadband thermoacoustic generator featuring an all-organic substrate and a flexible hairpin bandpass filter with excellent signal transmission performance. Furthermore, the DBPI-0.25 film exhibits excellent thermal stability (Td5% = 478.3°C), superior moisture resistance (water uptake of 0.41%), and good mechanical flexibility, rendering it highly suitable for advanced microelectronics.

crystalline polyimide↗

PubMed2026

Correction: Characterization and comparative analysis of the complete mitochondrial genome sequence of Aucklandia lappa Decne.

Explore the source record for details and available documents.

Published Erratum↗

PubMed2026

First Isolation and Genomic Characterization of BVDV-1c in Przewalski's Gazelle (Procapra przewalskii) from the Qinghai-Tibet Plateau, China.

Przewalski's gazelle (Procapra przewalskii) is an endangered ungulate endemic to the Qinghai-Tibet Plateau of China. Increasing habitat alteration and close contact with domestic livestock have raised concerns about cross-species pathogen transmission, yet infectious disease studies in this species remain limited. To determine the etiology of illness in two deceased gazelles from a conservation facility in Qinghai Province, we screened samples for a panel of pathogens, including Mycoplasma ovipneumoniae, Clostridium perfringens toxin genes, Mannheimia haemolytica, Klebsiella pneumoniae, Mycoplasma capricolum subsp. capripneumoniae, Pasteurella multocida, Peste des petits ruminants virus (PPRV), Bovine viral diarrhea virus (BVDV), and Infectious bovine rhinotracheitis virus (IBRV), using PCR and RT-PCR. BVDV-specific nucleic acids were detected in tissue samples from both individuals, whereas all other targeted pathogens tested negative. The virus was successfully isolated in Madin-Darby Bovine Kidney (MDBK) cells and confirmed by RT-PCR, followed by whole-genome sequencing of the isolate, which was designated QH PSYL 2026. Phylogenetic analysis based on the full-length genome and 5'UTR sequences assigned the isolate to the BVDV-1c subgenotype. Notably, its 5'UTR sequence shared 100% identity with those of local cattle-derived BVDV strains, providing molecular evidence suggestive of an epidemiological linkage between wildlife and livestock. Integrating clinical signs, gross pathology, and laboratory results, the cases were consistent with BVDV infection as the primary presumptive etiology. To our knowledge, this is the first report of BVDV infection, virus isolation, and genomic characterization in Przewalski's gazelle. The detection of a BVDV-1c strain in this endangered species highlights the potential threat that livestock-associated pathogens pose to wildlife on the Qinghai-Tibet Plateau. These findings furnish crucial baseline data for disease surveillance, molecular epidemiology, and conservation management of Przewalski's gazelle and provide valuable scientific evidence for wildlife disease prevention and control in plateau ecosystems.

BVDV-1c↗

PubMed2026

Spatially resolved single-cell atlas reveals the macroevolutionary trajectory of animal hearts.

Animal hearts display diverse anatomical structures during adaptive evolution. Here, we present a multiomics atlas of adult hearts from 27 species across chordates, arthropods, and mollusks. Joint analysis indicates that Bilateria hearts share a core gene repertoire, taking a stepwise "add-on" approach as a universal evolutionary strategy. The "proto-heart" is populated by key cell types, including cardiomyocytes, fibroblasts, endothelial cells, and neural cells, which maintained core signatures while evolving with shifts in living environments and corresponding adaptations in the cardiovascular system. Additionally, we reveal an evolutionarily conserved cardiomyocyte state dynamic potentially linked to cardiac development and stress responses. Finally, we identify a common molecular program underpinning chamber evolution from a ventricular foundation. This work establishes a resource for understanding the intrinsic mechanisms of heart evolution.

Animals↗

PubMed2026

Financing and health system capacity for precision medicine in Asia: a six country landscape analysis.

BACKGROUND: Precision medicine (PM) adoption is accelerating across Asia, but implementation remains uneven due to differences in financing, infrastructure, governance, and health-system readiness. OBJECTIVES: To examine how six Asian countries (Singapore, South Korea, China, Malaysia, Thailand, and Indonesia) adopt, finance, and integrate PM technologies, and identify common implementation patterns and challenges. METHODS: A landscape review of peer-reviewed literature, government publications, and HTA reports (2010-2026) was conducted, supplemented by stakeholder consultations. PM applications were grouped into public health screening (hereditary breast and ovarian cancer [HBOC] and familial hypercholesterolemia [FH] cascade testing), next-generation sequencing (NGS) applications (rare diseases, oncology, pharmacogenomics), and AI-enabled PM. Evidence was synthesized across access, awareness, reimbursement, and implementation. RESULTS: Public health genomic screening demonstrated the highest implementation readiness, followed by precision oncology, while rare disease diagnostics remained infrastructure-dependent and pharmacogenomics and AI-enabled PM platforms were at earlier stages. Four readiness profiles emerged: highly aligned systems; reimbursement-constrained systems with strong governance and infrastructure; systems strengthening governance, public financing and infrastructure; and strategy-led systems expanding implementation through pilot programs and referral centers. CONCLUSIONS: PM implementation across Asia remains heterogeneous. The identified readiness profiles highlight governance, financing, and infrastructure priorities for sustainable and equitable PM diffusion.

Asia↗

PubMed2026

Relationship Between Number of Acute Pancreatitis Episodes and Risk of New-onset Diabetes in the U.S.: A Real-world Data Analysis.

INTRODUCTION: Acute pancreatitis (AP) is a common inflammatory disorder that is associated with increased risk for diabetes mellitus (DM). It remains unclear whether recurrent acute pancreatitis (RAP) is associated with further increased risk of incident DM. This study aims to investigate the association between RAP and incident DM using real-world data. METHODS: We conducted a retrospective cohort study using the MerativeTM MarketScan® claims database (2016-2023), identifying patients with AP and no prior history of DM at baseline. The primary exposure of interest, RAP, was defined as one or more episodes of AP occurring ≥90 days after the index AP diagnosis, whereas one episode of AP referred to a single episode of AP (SAP) with no subsequent recurrence within 90 days following the index event. A multivariable stratified Cox proportional hazards regression models were used to determine the association between RAP and incident DM, identified using ICD-10 codes. RESULTS: In total, 16,184 individuals with AP (mean [SD] age: 45.8 [12.3]) contributed 40,712 person-years of follow-up, during which 1,477 incident cases of DM were documented. Individuals with RAP had an increased risk of incident DM compared with those with a SAP(adjusted HR, 1.92; 95% CI, 1.61-2.29). The risk increased significantly with the frequency of RAP. In comparing the modifying effect of patient demographics and comorbidities, a stronger association between RAP and incident DM was observed in females (adjusted HR, 2.44; 95% CI, 1.87-3.19) than in males (adjusted HR, 1.64; 95% CI, 1.30-2.07; Pinteraction=0.03). Also, stronger associations were observed among younger patients (18-46 y) (adjusted HR=2.56; 95% CI, 1.97-3.31) and among non-tobacco abuse (adjusted HR=2.19; 95% CI, 1.81-2.65), with significant interactions for all comparisons (Pinteraction<0.05. CONCLUSIONS: In this real-world study, RAP was associated with an increased risk of incident DM. Our findings highlight an opportunity for glycemic monitoring and proactive management of patients with RAP to mitigate their risk of developing DM.

AP↗

PubMed2026

Development and validation of a serum peptidomic signature for early detection of asymptomatic ovarian cancer: A multi-center prospective study.

Early detection of asymptomatic ovarian cancer (asym-OC) remains a critical challenge, the failure of which underlies its high mortality. Performing serum peptidomic profiling of 843 participants in the cohort SOCFCP, we distill 1,081 initial features into a 7-marker panel for asym-OC detection via a biology-informed machine-learning (ML)-based feature selection strategy. Three markers significantly revert toward non-OC levels after surgery. Integrating the panel with age, CA125, and HE4, we develop and externally validate (n = 159) a LightGBM model, ProMS+. For early-stage OC detection, ProMS+ shows a specificity of 92.6% at 95.0% sensitivity, outperforming CA125 (44.7%), HE4 (11.2%), and Risk of Ovarian Malignancy Algorithm (ROMA) (24.0%), with an area under the curve (AUC) of 0.993. In a simulated high-risk population (n = 100,000; OC prevalence = 1%), ProMS+ yields a high AUC (0.983) and a higher positive predictive value than CA125, HE4, and Age + CA125 + HE4 combined model (0.201 vs. 0.027, 0.090, and 0.064). ProMS+ offers a promising, non-invasive, and interpretable approach for the early detection of asym-OC.

Humans↗

PubMed2026

AI proteomics: from protein identification to virtual cells.

Artificial intelligence (AI) is transforming scientific research, including proteomics. In this Perspective, we highlight key mass spectrometry (MS)-based proteomics areas where AI is driving innovation, ranging from protein identification to building AI virtual cells. These include improving peptide and protein identification and quantification; characterizing protein-protein interactions and protein complexes; advancing spatial and perturbation proteomics; integrating multi-omics data; and, ultimately, enabling AI virtual cells. Finally, we call for global collaboration among data producers, data consumers and other stakeholders to establish an AI-friendly ecosystem for MS-based proteomics, laying the foundation for transformative advancements in proteomics driven by AI.

Proteomics↗

PubMed2026

Enhancement flavor quality in Zhao'an Baxian oolong tea through enhanced turning-over process.

A systematical investigation on the effects of turning-over intensity on the flavor formation of Zhao'an Baxian oolong tea (ZBT) was performed, through a comparative analysis of heavy turning-over (HT) and light turning-over (LT) treatments in this study. The tea samples were subjected to proteomic and metabolomic analyses, combined with quantitative descriptive analysis (QDA) and electronic sensory (E-tongue/E-nose) evaluation. The results demonstrate that HT significantly reduced the content of bitter and astringent compounds, such as catechins and flavonol glycosides, while promoting the accumulation of umami-related amino acids. Concurrently, HT enhanced the biosynthesis of key floral and fruity volatiles, such as β-ocimene, geraniol, benzaldehyde, jasmone by activating stress-responsive metabolic pathways. These coordinated biochemical changes, driven by enzyme-catalyzed reactions in response to prolonged mechanical wounding and environmental stress, collectively improved the overall sensory profile of ZBT. These findings provide a mechanistic foundation for improving ZBT production, with clear implications for quality control and flavor-oriented product development.

Tea↗

PubMed2026

Emergence of ceftazidime-avibactam resistance mediated by KPC variants KPC-71 and KPC-78 in ST463 Pseudomonas aeruginosa.

UNLABELLED: Pseudomonas aeruginosa is a well-recognized opportunistic pathogen and a leading cause of healthcare-associated infections. The shrinking effectiveness of available antimicrobial therapies has intensified the global threat posed by carbapenem-resistant P. aeruginosa (CRPA). Here, we elucidate the mechanisms of ceftazidime-avibactam (CZA) resistance mediated by the rare KPC variants, KPC-71 and KPC-78, identified during the treatment of CRPA infections. Two CZA-resistant P. aeruginosa strains, SY-206885 and HZ-231016032, were isolated from critically ill male patients with severe pneumonia. Whole-genome sequencing assigned both isolates to the high-risk sequence type 463 (ST463). Isolate SY-206885 harbors the blaKPC-71 gene, while HZ-231016032 carries blaKPC-78. Cloning and expression of these genes in P. aeruginosa PAO1 conferred a marked increase in the CZA minimum inhibitory concentration. Notably, expression of KPC-71 or KPC-78 conferred CZA resistance while simultaneously reducing carbapenem hydrolytic activity, a trade-off previously described for some KPC variants but still rarely documented in P. aeruginosa. Structural analysis and kinetic profiling showed that, relative to wild-type KPC-2, both KPC-71 and KPC-78 exhibited reduced catalytic turnover but increased substrate affinity for ceftazidime, together with significantly weakened binding to avibactam. In addition, elevated expression of MexAB-OprM and AmpC-related determinants in the clinical isolates likely further enhanced the high-level CZA resistance phenotype. These findings highlight the capacity of the ST463 CRPA lineage to evolve CZA resistance through KPC structural diversification under antimicrobial pressure and underscore the need for close surveillance during therapy. IMPORTANCE: In this study, we report the detection of the uncommon KPC variants KPC-71 and KPC-78 in clinical sequence type 463 (ST463) carbapenem-resistant Pseudomonas aeruginosa isolates exhibiting resistance to ceftazidime-avibactam (CZA). We demonstrate that CZA resistance is driven by specific structural alterations-a serine insertion between residues 182 and 183 or a D179A substitution within the Ω-loop-that reshape the functional balance of the KPC enzyme. These changes appear to create an evolutionary trade-off by improving ceftazidime recognition while weakening avibactam-mediated inhibition. Given the widespread dissemination of the ST463 lineage in China, the emergence of these variants highlights the urgent need for clinicians to monitor for CZA resistance development during therapy. CLINICAL TRIALS: This study is registered with ClinicalTrials.gov as ChiCTR2500105846.

Ceftazidime↗

PubMed2026

Assembly and comparative analysis of the mitochondrial genome of Pleione yunnanensis: genome structure and evolutionary insights.

BACKGROUND: Pleione yunnanensis a terrestrial or semi-epiphytic herbaceous plant belonging to the Orchidaceae family, is valued for both its medicinal uses and ornamental appeal. Although its chloroplast genomes have been sequenced, its complete mt genome had not previously been resolved, limiting genetic and evolutionary studies of the species. RESULTS: In this work, we assembled and characterized the first complete mt genome of P. yunnanensis, revealing a structurally complex, multibranched system composed of 14 circular-mapping molecules totaling 468,176 bp with a GC content of 44.32%. The genome encodes 44 annotated genes, including 28 protein-coding genes (PCGs), 15 tRNAs, and one rRNA. The multibranched architecture provides new evidence supporting the dynamic and recombinational nature of plant mt genomes. Repeat analysis uncovered 29 simple sequence repeats (SSRs), 19 tandem repeats, and 118 dispersed repeats, indicating a comparatively lower repeat abundance than that found in closely related orchids with similar mt genome sizes. Codon-usage profiling of PCGs showed a marked bias toward A/T-ending codons. Prediction of RNA editing sites identified 4,708 putative edits across mitochondrial PCGs. Most mitochondrial genes displayed Ka/Ks ratios close to 1.0, suggesting relaxed selective constraints or lineage-specific evolutionary patterns rather than strong positive selection. Moreover, we detected 69 chloroplast-derived homologous fragments, including 15 intact genes, suggesting ongoing plastid-mitochondrial DNA transfer. Phylogenetic reconstruction and collinearity comparisons demonstrated that P. yunnanensis clustered closely with Dendrobium species, including D. amplum and D. hancockii, within the Orchidaceae clade. CONCLUSIONS: This study provides the first complete mt genome of P. yunnanensis, providing a foundational genomic resource for the genus Pleione. The results not only improve our understanding of mt genome structure and evolution in Orchidaceae, but also offer valuable molecular evidence for phylogenetic inference, germplasm identification, and conservation of this endangered medicinal species.

Orchidaceae↗

PubMed2026

Characterization and comparative analysis of the complete mitochondrial genome sequence of Aucklandia lappa Decne.

BACKGROUND: Aucklandia lappa Decne, a precious medicinal herb in China, utilises the dried rhizome as its medicinal part, which riches in volatile oils, sesquiterpene compounds and other active constituents. Although the mitogenome of A. lappa has been assembled, related research remains in its preliminary stages, far from achieving comprehensive and in-depth understanding. RESULTS: In this paper, the complete mitogenome of A. lappa was assembled by employing a hybrid strategy that combined Illumina short-read and Nanopore long-read sequencing. The assembled mitogenome is 436,648 bp in size with a GC content of 45.06%. The mitogenome has only one chromosomal structure, It contains 54 genes, including 31 protein-coding genes(PCG), 19 tRNA genes, and 4 rRNA genes. A total of 32 high-frequency codons exhibiting significant AT-bias, 431 RNA editing sites, and 26 homologous fragments were transferred from the chloroplast to mitochondria genes (7,337 bp, 1.68%). Furthermore, we conducted a phylogenetic analysis involving in A. lappa and 27 other taxa to clarify its evolutionary and taxonomic status. These findings provide a foundation for further understanding the evolutionary relationships within Asteraceae plant. CONCLUSION: Through the assembly and comprehensive analysis of A. lappa mitogenome, This study has for the first time fully elucidated its mitogenomic structural characteristics.These results not only provide high-quality genetic resources for research on the Asteraceae mitogenome but also lay a solid foundation for in-depth exploration of the evolution and functional genomics of medicinal plants in the Asteraceae family.

Genome, Mitochondrial↗

PubMed2026

Emerging multidimensional biomarker system for cardiovascular-kidney-metabolic syndrome: from multi-omics integration to clinical artificial intelligence.

Cardiovascular-kidney-metabolic (CKM) syndrome is an emerging clinical entity that highlights the complex, bidirectional interplay among cardiovascular disease, chronic kidney disease, and metabolic disorders, representing a substantial and growing global health burden. This conceptualization marks a paradigm shift from viewing these conditions in isolation to understanding them as an interconnected disease continuum. Traditional biomarkers face significant limitations in the early detection, risk stratification, and precise management of CKM, necessitating a transition towards an integrated framework that captures its multisystem nature. This review systematically outlines an emerging multidimensional biomarker system encompassing key pathological axes such as metabolism, immuno-inflammation, oxidative stress, and biological aging, offering refined risk assessment beyond conventional metrics. The development of this system is propelled by revolutionary platforms, including accessible sampling techniques (e.g., dried blood spots), advanced in vitro models (e.g., multi-organ-on-a-chip), and multi-omics technologies. These platforms not only facilitate a deeper dissection of the heterogeneous origins and inter-organ crosstalk in CKM but also accelerate the discovery and validation of novel biomarkers. Concurrently, artificial intelligence serves as a pivotal tool for clinical translation, effectively integrating high-dimensional data to transform complex molecular profiles into actionable clinical insights. By enabling the construction of dynamic risk prediction and decision-support systems, this review charts a pathway toward proactive, individualized, and precise prevention and management of CKM syndrome.

Humans↗

PubMed2026

Dock & design: engineering specificity for an alternative pimaradiene outcome with the ent-kaurene synthase from Bradyrhizobium japonicum.

The complexity of the reactions catalyzed by terpene synthases has hindered enzymatic engineering. In most cases such efforts result in non-specific product outcome, with the targeted compound being produced alongside others, hindering further use. Previous work with the structurally characterized ent-kaurene synthase from Bradyrhizobium japonicum (BjKS) identified a serine for alanine substitution (A167S) that led to premature deprotonation, yielding a pair of ent-pimaradiene double-bond isomers, with retrospective analysis by the TerDockin computational approach indicating that the introduced hydroxyl acts as a catalytic base for both. Here this route to 'short-circuiting' the BjKS catalyzed reaction for ent-pimaradiene production was further explored, with prospective application of TerDockin, via design-build-test cycles, enabling specific production of a novel pimaradiene isomer via introduction of a water molecule as the catalytic base. The resulting mutants, BjKS:F72S and particularly BjKS:F72Y/Y280S specifically yield the targeted ent-pimara-8,15-diene with reasonable catalytic efficiency, demonstrating the applicability of this computationally inexpensive approach to engineering terpene synthase product outcomes.

Journal Article↗

PubMed2026

Analysis of CYLD gene variants in 41 patients with multiple familial trichoepithelioma.

OBJECTIVE: To investigate the variants of the CYLD gene in Chinese patients with multiple familial trichoepithelioma (MFT), aiming to provide a scientific basis for genetic counseling and prenatal diagnosis, thereby creating favorable conditions for intervention treatment and improving the prognosis of patients. PATIENTS AND METHODS: Whole-exome sequencing (WES) was performed in patients from eleven families to identify candidate variants, which were subsequently confirmed by Sanger sequencing. The minigene technique was used to perform functional analyses of the variants c.2342-8C>G and c.1685-9T>G. Whole-genome sequencing (WGS) was applied in patients with negative WES results. RESULTS: All 41 patients presented with multiple papules or nodules on the nose. We identified six novel pathogenic variants and three recurrent pathogenic variants. Conversely, no gene variants were detected in four patients. The c.1685-9T>G variant caused aberrant mRNA splicing, resulting in the insertion of an 8-base intronic sequence into the mRNA and subsequent premature termination, while the variant c.2342-8C>G led to premature mRNA splicing seven bases upstream of the canonical splice site. CONCLUSIONS: This study identified six novel and three recurrent pathogenic variants in the CYLD gene among 41 patients with MFT. Comprising the largest sample size report in this field to date, this work considerably expands the mutational spectrum of the CYLD gene (currently comprising 144 variants) and carries important implications for genetic counseling.

Humans↗

PubMed2025

Relationship between mucin gene polymorphisms and different types of gallbladder stones.

BACKGROUND: Gallstones, a common surgical condition globally, affect around 20% of patients. The development of gallstones is linked to abnormal cholesterol and bilirubin metabolism, reduced gallbladder function, insulin resistance, biliary infections, and genetic factors. In addition to these factors, research has shown that mucins play a role in gallstone formation. This study aims to explore the connection between different types of gallstones and mucin gene polymorphisms. METHODS: For this purpose, a total of 121 patients with gallbladder stones PNS and 107 patients with healthy controls PNS were enrolled in this case-control study. One SNPs (rs4072037) of MUC1 gene、 three SNPs (rs2856111、rs41532344、rs41349846) of MUC2 gene、four SNPs (rs712005、rs2246980、rs2258447、rs2259292) of MUC4 gene、seven SNPs (rs28415193、rs56047977、rs2037089、rs2075854、rs3829224、rs2672785、rs2735709) of MUC5 gene、eight SNPs (rs10902268、rs61869016、rs573849895、rs59257210、rs7396383、rs74644072、rs7481521、rs9704308) of MUC6 gene、five SNPs (rs10229731、rs73168398、rs4729655、rs55903219、rs74974199) of MUC17 gene. We amplified SNP sites by polymerase chain reaction (PCR) using specific primer sets followed by DNA sequencing. RESULTS: The frequencies of MUC2 rs2856111 C/T genotype (OR = 3.81, 95%CI: 1.06-13.68) was higher than the control group. MUC17 rs10229731 A/C genotype (OR = 0.33, 95%CI: 0.12-0.95), rs73168398 G/A genotype (OR = 0.26, 95%CI: 0.07-0.98), MUC6 rs10902268 G/A genotype (OR = 0.40, 95%CI: 0.17-0.95) at lower frequencies than controls. The frequencies of MUC2 rs41532344 T allele (OR = 2.55, 95%CI: 1.06-6.13), MUC4 rs712005 G allele (OR = 2.51, 95%CI: 1.20-5.22), MUC5B rs2037089 C allele (OR = 3.54, 95%CI: 1.14-11.01) and MUC5AC rs28415193 G allele (OR = 1.77, 95%CI: 1.02-3.07) were higher than the control group. MUC6 rs10902268 A allele (OR = 0.004, 95%CI: 0.00-0.27), rs61869016 C allele (OR = 0.07, 95%CI: 0.01-0.63) at lower frequencies than controls. CONCLUSIONS: Polymorphisms in the mucin gene were linked to the formation of gallbladder stones. The MUC4 rs712005 G allele, MUC5B rs2037089 C allele, MUC2 rs41532344 T allele and MUC5AC rs28415193 G allele were found to predispose individuals to the development of the disease. MUC6 rs10902268 A allele and rs61869016 C allele were identified as protective factors. Meanwhile, MUC2 rs2856111 CT genotype was found to predispose individuals to the development of the disease. MUC17 rs10229731 AC genotype, rs73168398 GA genotype and MUC6 rs10902268 GA genotype were identified as protective factors.

Humans↗

PubMed2025

Genome-wide DNA methylation and transcriptome sequencing analyses of lens tissue in an age-related mouse cataract model.

DNA methylation is known to be associated with cataracts. In this study, we used a mouse model and performed DNA methylation and transcriptome sequencing analyses to find epigenetic indicators for age-related cataracts (ARC). Anterior lens capsule membrane tissues from young and aged mice were analyzed by MethylRAD-seq to detect the genome-wide methylation of extracted DNA. The young and aged mice had 76,524 and 15,608 differentially methylated CCGG and CCWGG sites, respectively. The Pearson correlation analysis detected 109 and 33 differentially expressed genes (DEGs) with negative methylation at CCGG and CCWGG sites, respectively, in their promoter regions. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) functional enrichment analyses showed that DEGs with abnormal methylation at CCGG sites were primarily associated with protein kinase C signaling (Akap12, Capzb), protein threonine kinase activity (Dmpk, Mapkapk3), and calcium signaling pathway (Slc25a4, Cacna1f), whereas DEGs with abnormal methylation at CCWGG sites were associated with ribosomal protein S6 kinase activity (Rps6ka3). These genes were validated by pyrosequencing methylation analysis. The results showed that the ARC group (aged mice) had lower Dmpk and Slc25a4 methylation levels and a higher Rps6ka3 methylation than the control group (young mice), which is consistent with the results of the joint analysis of differentially methylated and differentially expressed genes. In conclusion, we confirmed the genome-wide DNA methylation pattern and gene expression profile of ARC based on the mouse cataract model with aged mice. The identified methylation molecular markers have great potential for application in the future diagnosis and treatment of ARC.

Animals↗