Search Results (686)

Pepper breeding in China faces challenges including narrow genetic backgrounds, variety homogenization, and authenticity issues in the seed market. The original SSR-based variety identification system (NY/T 2475-2013) has limitations such as low polymorphism and uneven marker distribution, failing to meet current efficiency requirements. In this study, 240 pepper varieties were used. Fluorescent capillary electrophoresis was employed to analyze issues in the original system. A total of 150 SSR primer pairs was screened using eight phenotypically distinct varieties, followed by rescreening with 96 varieties from different origins. After marker optimization, a new identification system was established, validated using 144 varieties, and a DNA fingerprint database was constructed. Phenotypic experiments were conducted to evaluate applicability. The new system comprises 26 core primer pairs: 12 newly selected and 14 retained from the original standard. These primers are evenly distributed across chromosomes, with annealing temperatures optimized to 57 °C and grouped into seven multiplex panels. Across 240 pepper varieties, the 26 primer pairs detected 153 allelic variants and 293 genotypes. Average polymorphism information content (PIC) increased from 0.43 to 0.49 compared to the original system, and the discrimination efficiency reached 99.975% among 28,680 pairwise variety combinations. Phylogenetic and population structure analyses divided the 240 pepper varieties into six groups. Varieties with molecular genetic distance approaching zero showed high phenotypic similarity. The newly developed SSR-based system demonstrated excellent performance and strong applicability. It can be used for authenticity and purity identification, parentage testing, and auxiliary selection in DUS testing, supporting new variety rights protection and providing technical support for standardized management of the pepper seed industry. Full article

Rice yield is a complex polygenic trait influenced by intricate interactions among component characters. In this study, integrative quantitative genetics and multivariate models were used to dissect yield architecture and trait networks, and identify the promising genotypes among 21 rice genotypes that were tested in a randomized block design with three replicates. Analysis of variance revealed highly significant genotypic differences (p < 0.001) for most agronomic, yield, and grain-quality traits. Genetic variability analysis revealed high genotypic and phenotypic coefficients of variation, together with high heritability and genetic advance, for grain density per panicle, number of grains per panicle, biomass, flag leaf area, tillering ability, harvest index, and grain yield, indicating considerable genetic potential for genetic improvement. Pearson’s correlation and path coefficient analyses revealed that biomass and number of grains per panicle were the major determinants of grain yield per hill, with biomass exhibiting the strongest positive association (r = 0.678) and the largest direct effect. Principal component analysis indicated that the first two principal components explained 51.4% of the total phenotypic variation, with yield components, biomass, tillering traits, and grain-quality attributes contributing most strongly to genotype differentiation. Hierarchical cluster analysis grouped the genotypes into four distinct clusters, revealing substantial phenotypic divergence and valuable parental combinations for hybridization. The multi-trait selection index identified VAR16 as the most promising genotype, followed by VAR1, VAR17, VAR18, and VAR12, owing to their desirable combination of high grain yield and superior grain quality. Overall, this study offers a robust foundation for ideotype breeding and parental selection to enhance rice productivity and grain quality under subtropical conditions. Full article

Average nucleotide identity (ANI) values of 95–96% and digital DNA–DNA hybridization (dDDH) values of 70% are currently regarded as the gold standards for bacterial species delineation. However, the accuracy and applicability of ANI thresholds may vary among genera and depend on genome quality. In this study, three genome quality standards were applied to re-evaluate ANI classification thresholds for the genus Nocardiopsis: >90% completeness and <5% contamination (13 strains, 78 genome pairs), >90% completeness and <10% contamination (34 strains, 561 genome pairs), and >50% completeness and <10% contamination (40 strains, 780 genome pairs). Based on these analyses, we preliminarily estimated the species delineation thresholds for the genus Nocardiopsis as 96.68% for ANIm and 96.15% for ANIb, using the currently available genome datasets. Strain HUAS JQ3^T was isolated from leaves of Camellia oleifera Abel collected in Taoyuan County, northwestern Hunan Province, China. Phylogenetic, genomic, morphological, cultural, and physiological analyses were conducted to determine its taxonomic status. Full-length 16S rRNA gene sequence analysis showed that strain HUAS JQ3^T belongs to the genus Nocardiopsis and shares the highest sequence similarities with N. dassonvillei subsp. crassaminis D1^T (100.00%), N. alborubida NBRC 13392^T (99.86%), N. synnemataformans DSM 44143^T (99.73%), and N. akebiae HDS 12^T (99.73%). Phylogenetic analysis based on 16S rRNA gene sequences clustered strain HUAS JQ3^T with N. alborubida, N. synnemataformans, and N. dassonvillei subsp. crassaminis. In contrast, whole-genome phylogenetic analysis indicated that strain HUAS JQ3^T is most closely related to N. akebiae HDS 12^T. Nevertheless, the ANIm/ANIb and dDDH values between strain HUAS JQ3^T and N. akebiae HDS 12^T were below the proposed species delineation thresholds of 70% dDDH and 96.68%/96.15% ANIm/b for the genus Nocardiopsis. In addition, strain HUAS JQ3^T exhibited distinct morphological, cell culture, physiological, and biochemical characteristics compared with N. akebiae HDS 12^T. The combined genotypic and phenotypic evidence gathered in this study demonstrates that strain HUAS JQ3^T (= MCCC 1K08696^T = JCM 36305^T) represents a novel species of the genus Nocardiopsis, for which the name Nocardiopsis camelliae sp. nov. is proposed. Full article

Influent wastewater, characterized by a diverse bacterial composition of human and animal origin, is a suitable source for studying the spread of antibiotic resistance and virulence genes, particularly in Enterococcus faecalis and Enterococcus faecium. This study aimed to evaluate the potential of these two species as reservoirs and indicators of antibiotic resistance and virulence genes. Wastewater treatment plants near the three largest cities of Bulgaria (Sofia, Varna and Burgas) were selected for sampling. Influent wastewater samples were collected for a period of 3 months (February, March and May) and used in the analyses. Overall, 34 bacterial isolates (E. faecalis, n = 13 and E. faecium, n = 21) were isolated and identified by MALDI-ToF. Phenotypic and genotypic methods were used to evaluate their antibiotic resistance profiles (focusing on clinically relevant antibiotics) and virulence potential. High dissemination of phenotypic ampicillin and quinupristin-dalfoprisin resistance (97% of all tested strains and 81% of all E. faecium strains, respectively) was established. In March, the highest number of antibiotic-resistant profiles was observed, including the emergence of MDR strains, primarily among E. faecium strains. Molecular analyses revealed a dissemination of genes encoding resistance to aminoglycosides and β-lactam antibiotics. The most prevalent virulence genes were gelE and ace, found only in E. faecalis strains. All gelE-positive strains also exhibited phenotypic gelatinase activity. In this study, E. faecium shows greater antibiotic resistance potential, whereas E. faecalis exhibits increased virulence capacity. These exploratory findings support the usefulness of influent wastewater as a matrix for monitoring antibiotic-resistant and potentially virulent enterococcal isolates, while larger-scale and seasonally representative studies are needed to confirm temporal and geographic patterns. Full article

Soybean (Glycine max) is a major economic and food crop whose yield is severely affected by frogeye leaf spot (FLS), caused by Cercospora sojina. Current knowledge of resistance genes remains insufficient for effective molecular breeding. In this study, a recombinant inbred line (RIL) population derived from a cross between the resistant parent, Henong 60 (H60), and the susceptible parent, Dongnong L13 (DN L13), was evaluated under field conditions in Acheng (AC) and Xiangyang (XY). Plants were artificially inoculated with physiological race 7 of C. sojina, and disease severity at the R3 growth stage was recorded. Genotyping using the SoySNP660K chip yielded 54,836 high-quality single-nucleotide polymorphism (SNP) markers. A genome-wide association study (GWAS) was performed using the 3VmrMLM model by integrating dual-environment phenotypic data, and four quantitative trait nucleotides (QTNs) significantly associated with resistance to FLS were identified on chromosomes 8 (1), 17 (1), and 20 (2). By the analysis of genomic annotation, functional enrichment, metabolic pathway analyses, haplotype–phenotype association and quantitative real-time PCR (qRT-PCR), Glyma.20G155700 and Glyma.17G070500 are intended to be candidate genes related to soybean resistance to race 7 of FLS. The findings of this study provide insights into the genetic mechanisms underlying resistance to FLS in soybean. The identified molecular markers and candidate genes may provide useful resources for marker-assisted breeding and the development of disease-resistant germplasm. Full article

Background/Goals: Traumatic brain injury (TBI) is increasingly recognised as an important risk factor for delayed neurodegeneration and has been implicated in the modulation of Alzheimer’s disease (AD)-related amyloid pathology. However, experimental evidence remains equivocal, suggesting that the effects of TBI on amyloidogenesis are context-dependent and influenced by factors including disease stage, injury severity, and the pre-existing neurodegenerative background. This study aimed to comprehensively assess the effects of TBI on cognitive function, synuclein-family gene expression, neuroinflammatory gene expression and amyloid plaque morphology in APPswe/PS1dE9/Blg mice. Methods: Wild-type and APP/PS1 mice were assigned to four experimental groups: WT, WT-TBI, APP/PS1 and APP/PS1-TBI. TBI was induced at 6 months of age using a controlled cortical impact device (precision impactor). Behavioural assessments were conducted at two post-injury time points to evaluate locomotor activity, object recognition memory, short-term spatial memory and spatial learning. Cortex and hippocampus samples were analysed by qRT-PCR to evaluate synuclein-family gene expression and neuroinflammation-related markers. Amyloid plaque pathology was evaluated in Congo red-stained brain sections using QuPath-based image analysis. Results: TBI did not induce a consistent increase in amyloid plaque burden in APP/PS1 mice. Instead, TBI was associated with changes in plaque-size distribution, particularly at the later post-injury time point. Behavioural assessments revealed early trauma-associated cognitive impairmen; whereas, impairments observed at later stages appeared to be driven predominantly by progression of the APP/PS1 phenotype. Gene expression analysis revealed region- and genotype-dependent alterations in synuclein-family transcripts and inflammatory markers with the most pronounced changes observed in the cortex. Conclusions: These findings indicate that TBI does not uniformly accelerate β-amyloid deposition in APP/PS1 mice with established amyloid pathology. Rather, TBI appears to modify the temporal progression and morphological characteristics of amyloid pathology while interacting with genotype-dependent transcriptional responses involving synuclein-family genes and neuroinflammatory pathways. These results highlight the complex interplay between traumatic injury and pre-existing neurodegenerative processes and warrant further studies at the protein-level and over extended follow-up periods to elucidate the underlying mechanisms. Full article

European plum (Prunus domestica L.) breeding for competitive production increasingly requires donor parents that combine attractive, market-oriented fruit quality with stable trait expression. This study evaluated a set of 36 phenotypically highly different cultivars from the germplasm collection maintained at the Research and Breeding Institute of Pomology Holovousy Ltd. (the Czech Republic). First, genetic analyses based on SSR marker data were performed to assess the diversity and kinship relationships within the selected collection of plum varieties. Several parentage combinations were successfully identified for cultivars with previously undocumented origins. Population-level analyses confirmed broad genetic diversity and separated the collection into four genetically distinct groups. Phenotypes were obtained on fruits ripened on trees from a non-irrigated orchard on myrobalan rootstock over five consecutive years (2019–2023). Pomological and related quality traits were recorded using nine-point UPOV-based rating scales together with instrumental measurements. The dataset included fruit size and shape descriptors, skin and flesh color, wax bloom, soluble solids (°Brix), firmness, bruising resistance, stone separability, and sensory attributes (flavor, aroma, juiciness, texture, and acidity). Interannual variability was quantified using coefficients of variation, and relationships among traits were explored using Pearson correlations. The results revealed broad phenotypic diversity among the individual varieties and also their genetic groups. Finally, phenotypes were associated with genotypes, and the most genetically determined traits were identified. Multi-year stability profiling supported the identification of candidate elite donor cultivars that combine favorable attributes for the fresh market and/or traits relevant to processing. These findings provide a practical pre-breeding shortlist and quantitative trait targets to support crossing design and selection under central European conditions. Full article

Background: Coronary artery disease (CAD) arises from the convergence of genetic susceptibility, lipid dysregulation, and modifiable environmental exposures. The polymorphism rs4977574, located proximal to the CDKN2A/CDKN2B gene cluster, has been repeatedly implicated in CAD risk across several populations, yet its relationship to intermediate cardiometabolic phenotypes and pharmacological treatment patterns in Saudi individuals remains poorly characterized. Objective: This study aimed to evaluate the association of rs4977574 with CAD status, lipid-related phenotypes, smoking history, obesity, and atorvastatin exposure in a Saudi cardiovascular cohort, and to assess the robustness of observed associations through sensitivity-adjusted analyses excluding participants with major metabolic confounders. Methods: A case–control genetic association study was conducted in Saudi participants with clinically confirmed CAD and healthy controls. Genomic DNA was genotyped for rs4977574 using TaqMan^® allelic discrimination assays. Genotype–phenotype associations were examined using chi-square testing, binary logistic regression under additive and dominant inheritance models, and one-way ANOVA for continuous lipid traits. Hardy–Weinberg equilibrium (HWE) was assessed in controls. Sensitivity analyses were conducted by sequentially excluding participants with obesity, smoking, diabetes mellitus, hypertension, dyslipidaemia, and statin use. Results: After covariate adjustment, rs4977574 was not independently associated with CAD case–control status under any inheritance model. Genotype-stratified analyses identified significant differences in HDL-cholesterol and triglyceride concentrations among cases, with no equivalent effects on total cholesterol or LDL-cholesterol. A significant association was observed between rs4977574 genotype and atorvastatin prescribing patterns. Sensitivity-adjusted analyses were directionally consistent with primary findings. HWE deviation persisted in controls after sequential metabolic exclusions, implicating population stratification or regional genetic heterogeneity rather than sample selection bias. Conclusions: Although rs4977574 did not associate independently with CAD susceptibility, its relationship with HDL-cholesterol, triglycerides, and atorvastatin exposure indicates that this locus contributes to cardiometabolic phenotypic heterogeneity in this Saudi cohort. These findings support phenotype-oriented and pharmacogenetically informed approaches in regional cardiovascular genetics and highlight the need for larger, ancestry-stratified investigations across Middle Eastern populations. Full article

Background: Mutations in the FBXO7 gene (PARK15) cause an autosomal recessive, early-onset neurodegenerative disorder typically presenting as Parkinsonian-Pyramidal Syndrome (PPS). Despite its recognition, the high phenotypic variability often delays diagnosis. Here, we report a novel Italian family and synthesize data from all published cases to date, offering an updated clinical and molecular overview of the disease. Methods: We performed clinical and molecular characterization of a newly identified family. Furthermore, we conducted a systematic literature review (from 2008 to 2026) to aggregate clinical, genetic, and geographic data of all reported PARK15 cases. Results: Two siblings presented with a complex phenotype including early-onset parkinsonism, cognitive decline, psychiatric symptoms, and aphasia-type speech disorders. Genetic analyses identified two novel likely pathogenic variants: a missense substitution in the UBL domain (p.Ile74Met) and a frameshift indel (p.Val233GlufsTer8). The literature review (incorporating clinical data from Europe, Asia, and South America) confirms a high prevalence of postural instability (87.5%), bradykinesia (83.3%), and pyramidal signs (~60%). We observed a distinct distribution of variants: missense mutations cluster in the N-terminal UBL and F-box domains, while truncating variants are more common in the C-terminal region. Discussion: Our findings expand the FBXO7 mutational landscape and underscore the “atypical” clinical markers, such as pyramidal signs and cognitive decline, that distinguish PARK15 from other recessive forms of parkinsonism like PARK2 and PARK6. The dual role of FBXO7 in mitochondrial quality control and proteasomal assembly suggests a broad disruption of cellular homeostasis. These observations refine genotype–phenotype correlations and may guide variant interpretation in routine diagnostic settings. Full article

A breeding program was established in Cuba using 19 full-sib families of sweetpotato (Ipomoea batatas [L.] Lam.) introduced as botanical seed from the International Potato Center (CIP). The objective was to develop biofortified cultivars combining high yield, phenotypic stability, and high β-carotene content under tropical conditions. The program followed a four-stage pipeline: (1) F₁ population establishment and visual selection (1732 plants) for morphological and pest/disease resistance traits; (2) initial clonal evaluation (C1) of 103 genotypes, estimation of genetic parameters, and multi-trait selection; (3) advanced evaluation of 19 elite genotypes, including analysis of genetic correlations and stability across two seasons; and (4) multi-environment trials (13 locations) with AMMI, GGE biplot, and MGIDI analyses. General and specific combining abilities were estimated, and broad-sense heritability (H²) was calculated. Three new biofortified cultivars ‘INICIP Dorado-4’, ‘INICIP B-30’, and ‘INICIP B-60’ were selected. These combine high yields, high β-carotene content, and distinct profiles for specific agronomic niches, with a total cumulative phenotypic gain of +352.8% achieved over four selection stages within a three-year period. This pipeline constitutes a replicable model for resource-constrained regions, demonstrating the potential of CIP germplasm to drive sweetpotato biofortification. Full article

Background/Objectives: Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder characterized by bone fragility, recurrent fractures, and variable extra-skeletal manifestations. There are scarce epidemiological and clinical data from Eastern Europe, including Romania. This study aimed to characterize the phenotypic spectrum and diagnostic features of pediatric OI in a Romanian multicenter cohort. Methods: A retrospective, multicenter observational study was conducted over a 10-year period (January 2014–December 2024) in three tertiary pediatric referral centers in Bucharest, Romania. Children with a diagnosis of OI based on clinical, radiological, and, where available, molecular criteria were included. Clinical, phenotypic, genetic, and therapeutic data were extracted from medical records. Statistical analyses included the Mann–Whitney U test, Kruskal–Wallis test with Bonferroni correction, Fisher’s exact test, Kaplan–Meier survival analysis, and Spearman correlation. Results: Forty-seven patients were included (53.2% female; median age at diagnosis 36 months, IQR 5–87). OI type I was the most frequent subtype (42.6%), followed by type III (29.8%) and type IV (21.3%). Molecular genetic testing was performed in 40.4% of patients; among genetically tested patients, COL1A1 variants represented the most common finding (52.6%). The median number of documented fractures was 5 (IQR 3–9), with a significantly higher annual fracture rate in type III compared to type I (0.99 vs. 0.34 fractures/year, p = 0.019). Short stature was the most frequent skeletal manifestation (66%), with significantly more severe growth impairment in type III compared to type I (−4.38 ± 1.67 vs. −1.56 ± 1.03 SD, p < 0.001). Blue sclerae was present in 87.2% of patients and dentinogenesis imperfecta in 68.1%. Cryptorchidism was identified in 50% of male patients. Developmental motor milestones were significantly delayed in type III OI patients, with 10.6% failing to achieve independent walking by last follow-up. A strong positive correlation was observed between age at first fracture and age at diagnosis (Spearman R = 0.764, p < 0.001), with type I patients diagnosed significantly later than type III (median 71.5 vs. 6.5 months, p = 0.006). Conclusions: This study provides the most comprehensive phenotypic characterization of pediatric OI reported from Romania to date. Our findings confirm established genotype–phenotype correlations and underscore the diagnostic challenge of milder OI forms. The high prevalence of cryptorchidism in male patients represents a clinically relevant finding needing prospective validation. The data highlight the need for expanded molecular diagnostic capacity, increased disease awareness among frontline clinicians, and the development of a national OI registry to support longitudinal research and integration with European rare bone disease networks. Full article

Background/Objectives: Bitter taste receptors (T2Rs), specifically T2R38, are present in the respiratory epithelium and react with bacterial quorum-sensing molecules to induce an innate immunity response. Although TAS2R38 polymorphisms have been correlated with susceptibility to chronic rhinosinusitis (CRS), they have not yet been explored in odontogenic rhinosinusitis (ORS), a distinct form of CRS with particular microbial and inflammatory features. We aim to establish a proof-of-concept methodology for investigating TAS2R38 genetic variants in ORS using direct maxillary sinus tissue analysis and demonstrate the feasibility of this translational approach. Methods: We conducted a prospective pilot case–control study of 36 ORS patients and 37 controls undergoing septoplasty without sinonasal disease. Maxillary sinus mucosal biopsies were obtained intraoperatively with informed consent. Genomic DNA was extracted using the PureLink Genomic DNA Mini Kit and quantified via NanoDrop spectrophotometry. TAS2R38 haplotypes were determined and classified as taster (PAV/PAV), non-taster (AVI/AVI), or intermediate (PAV/AVI) phenotype. Results: Among fully classifiable canonical TAS2R38 phenotypes (32 ORS patients, 28 controls), distributions were: tasters 12.5% vs. 25.0%, non-tasters 31.3% vs. 25.0%, and intermediate 56.3% vs. 50.0%. AVI/AVI non-taster status was not significantly associated with ORS susceptibility (OR = 1.36, 95% CI: 0.44–4.25; Fisher’s exact p = 0.775). Conclusions: This proof-of-concept study demonstrates that genotyping-grade genomic DNA can be recovered from acutely inflamed maxillary sinus mucosa, validating this substrate for future tissue-based expression, functional, and microbiome analyses not obtainable from peripheral samples; germline genotyping itself does not require sinus tissue. The observed difference in non-taster prevalence (31.3% vs. 25.0%) did not reach statistical significance and is reported descriptively. This directional trend is hypothesis-generating only and, given the limited statistical power, does not constitute evidence for an association. The demonstrated feasibility, together with the established biological rationale, supports an adequately powered confirmatory study and lays the foundation for future investigation of taste receptor genetics in ORS pathogenesis, and potentially personalized therapeutic strategies. Full article

Background/Objectives: Sex-specific differences in the pharmacokinetics of psychotropic drugs are gaining increasing clinical relevance, but only limited data are currently available on sex-specific effects within genetically defined metabolizer phenotype categories. The objective of this study was to assess genotype-dependent sex differences in the metabolic capacity of the drug-metabolizing enzymes CYP2D6 and CYP2C19. Methods: Statistical analyses were performed using linear mixed-effects models with subject-level random intercepts to account for repeated therapeutic drug monitoring (TDM) measurements. Venlafaxine and risperidone were used as probe drugs to find differences in the metabolic capacity of CYP2D6 and escitalopram for CYP2C19. Pharmacokinetic surrogate parameters were the metabolite-to-parent ratio (MPR) for venlafaxine and risperidone and the dose-corrected serum concentration (CD) for escitalopram. Models included sex, metabolizer phenotype, and their interaction, adjusted for age and creatinine production rate (CPR). Sex-specific differences within phenotype groups were assessed using estimated marginal means. Results: Among venlafaxine samples (N = 117) and risperidone samples (N = 73), no significant sex-specific differences in MPR were observed within CYP2D6 metabolizer groups. For escitalopram samples (N = 51), a significant sex difference was observed among CYP2C19 normal metabolizers (NMs), with higher CD in males compared to females. Conclusions: Exploratory analyses suggested a higher metabolic capacity in CYP2C19 NM females treated with escitalopram. Due to the limited sample size, however, this finding should be considered hypothesis-generating. Future studies in larger samples are needed to corroborate whether sex and other factors modulate the metabolic capacity of CYP2C19, e.g., by epigenetic mechanisms. Full article

Objective: TNFSF13B, which encodes B-cell-activating factor (BAFF) and peptidylarginine deiminase 4 (PADI4), plays crucial roles in the pathogenesis of ANCA-associated vasculitis (AAV). This study investigated the associations of single-nucleotide polymorphisms (SNPs) in TNFSF13B/BAFF and PADI4 genes with AAV susceptibility, clinical phenotypes, and disease activity in a Guangxi Chinese population. Methods: A case–control study included 324 AAV patients and 324 healthy controls. After propensity score matching (201 pairs), genomic DNA was genotyped for TNFSF13B/BAFF rs3759467 (formerly rs386492354) and rs1041569, and PADI4 rs11203366 and rs874881 using multiplex PCR and high-throughput sequencing. Genetic associations were analyzed via logistic regression, subgroup, haplotype, and clinical correlation analyses. For each of the four SNPs separately, machine learning models (logistic regression, SVM, Random Forest, XGBoost) were built and evaluated via 5-fold cross-validation. No formal adjustment for multiple comparisons was applied due to the exploratory nature of this study. Results: For TNFSF13B/BAFF, the rs3759467 C allele was protective (dominant model OR = 0.60, p = 0.011; log-additive OR = 0.71, p = 0.020; CA haplotype OR = 0.71, p = 0.019), while the rs1041569 T allele was a risk factor (dominant model OR = 1.70, p = 0.016). Subgroup analysis revealed stronger protective effects of rs3759467 in females, Han ethnicity, and MPA patients, and stronger risk effects of rs1041569 in Han ethnicity and MPA patients. Haplotype CA was protective (OR = 0.71, p = 0.019), and TT was risk-associated (OR = 1.55, p = 0.017). Both TNFSF13B/BAFF SNPs were associated with rash and hemoptysis incidence (p < 0.05). rs1041569 was also associated with RBC (red blood cell) count and HB (hemoglobin) levels (p < 0.05). For PADI4, rs11203366 and rs874881 showed no association with AAV susceptibility (all p > 0.05). However, their genotypes were associated with disease activity (BVAS, Birmingham Vasculitis Activity Score), RBC count, and HB levels (p < 0.05). Although machine learning was applied to explore predictive patterns, its performance was suboptimal (AUC < 0.6), indicating limited clinical applicability. Accordingly, the primary findings rely on the genetic model analysis, and the machine learning results should not be overinterpreted as clinically actionable. SHAP analysis indicated that risk-associated genotypes contributed most to model predictions. Conclusions:TNFSF13B/BAFF gene polymorphisms rs3759467 and rs1041569 were associated with AAV susceptibility in this Guangxi cohort, influencing clinical manifestations like rash, hemoptysis, and anemia severity. PADI4 polymorphisms rs11203366 and rs874881 are not associated with susceptibility but may correlate with disease activity and hematological parameters. These findings highlight the ethnic and clinical subtype specificity of genetic influences in AAV. Due to the lack of external validation, these findings are exploratory and require replication. Full article

Seasonal changes in leaf coloration are a key ecological and ornamental characteristic of Liquidambar formosana. To clarify the molecular basis of this process, we performed an integrated transcriptomic and metabolomic investigation comparing wild-type L. formosana (FX) with the autumn-red cultivar ‘Jinyu’ (JY). Leaves were sampled before and after the color transition. Analyses revealed distinct metabolic pathways driving coloration in each genotype. In JY, the red phenotype was primarily attributed to the activation of anthocyanin biosynthesis, characterized by coordinated upregulation of key structural genes (LfDFR, LfANS, LfBZ1) and significant accumulation of anthocyanins, especially pelargonidin derivatives. Conversely, FX exhibited enhanced flavonol biosynthesis and carotenoid/terpenoid metabolism, leading to greater yellow pigment accumulation and an orange-yellow hue. Weighted gene co-expression network analysis (WGCNA) identified a core module strongly correlated with anthocyanin content in JY, which was significantly enriched with transcription factors from the MYB, bHLH, and WRKY families. These results demonstrate that different L. formosana genotypes employ divergent metabolic strategies for autumn coloration, governed by specific transcriptional regulatory networks. This study provides crucial insights into pigment regulation in woody plants and offers valuable candidate genes for the molecular breeding of ornamental L. formosana cultivars. Full article