Journal of Applied Genetics最新文献

{"title":"Exploring shared genetic architecture in psoriasis and rheumatoid arthritis: a multi-method approach.","authors":"Zhou Zhou, Dan Dan Zhan, Lu Gan, Li Li Fan, Yu Wang, Ju Yang, Min Li","doi":"10.1007/s13353-026-01124-0","DOIUrl":"https://doi.org/10.1007/s13353-026-01124-0","url":null,"abstract":"<p><p>Psoriasis and rheumatoid arthritis (RA) are immune-mediated diseases that co-occur clinically, but their shared genetic architecture and the direction of shared effects remain debated. We integrated genome-wide association study (GWAS) summary statistics from FinnGen and UK Biobank using linkage disequilibrium score regression (LDSC), high-definition likelihood (HDL), ρ-HESS, MTAG, CPASSOC, colocalization, and MAGMA. The primary cross-population analysis showed a negative global genetic correlation (LDSC unconstrained: rg = - 0.3004, P = 6.70 × 10⁻³; constrained: rg = - 0.2251, P = 3.00 × 10⁻⁴; HDL: rg = - 0.3307, P = 1.14 × 10⁻³). Ancestry-matched sensitivity analyses produced positive but heterogeneous estimates (FinnGen: rg = 0.2422 to 0.6334; UK Biobank: rg = 0.1294 to 0.3777) that were not uniformly significant. Cross-trait analyses identified 95 independent SNPs and 10 additional shared loci. After allele harmonization, all 10 loci showed opposite MTAG effect directions for psoriasis and RA (two-sided exact binomial P = 1.95 × 10⁻³), indicating directional heterogeneity and possible antagonistic pleiotropy. Colocalization provided evidence for a shared causal signal at two TYK2 variants, rs11085727 and rs144309607 (PP.H4 > 0.8; r² = 0.0805 and D' = 1.0), although these results should be interpreted cautiously because they may reflect distinct correlated variants. MAGMA identified immune-related tissue enrichment for psoriasis but not RA. Collectively, these findings indicate that psoriasis and RA share genetic loci, but the global direction of genetic correlation is ancestry- and data-source-dependent and that locus-level effects include opposing directions. TYK2 remains a plausible shared target, but its therapeutic implications require direction-aware fine-mapping and functional validation.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149227970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical whole exome sequencing in childhood epilepsy: a tertiary center retrospective study from Saudi Arabia.","authors":"Iman S Abumansour, Rawan O Daghistani, Osama Y Muthaffar, Anas S Alyazidi","doi":"10.1007/s13353-026-01125-z","DOIUrl":"https://doi.org/10.1007/s13353-026-01125-z","url":null,"abstract":"<p><p>Childhood epilepsy, particularly when drug-resistant, often has an underlying genetic etiology. Populations with high consanguinity rates, such as Saudi Arabia, are expected to have a higher burden of autosomal recessive disorders. However, the diagnostic yield and clinical utility of whole-exome sequencing (WES) in this context require further characterization. We conducted a retrospective cross-sectional study at King Faisal Specialist Hospital and Research Centre-Jeddah (KFSHRC-J) between May 2017 and November 2021. We reviewed charts of all patients with clinical WES results (n = 561) and included 108 pediatric patients (< 14 years) for whom epilepsy was the primary indication for testing. Data on demographics, clinical presentation, radiological findings, and WES results were extracted from electronic medical records. Variants were classified according to ACMG guidelines. Among 108 patients (53 males, 49%; 55 females, 51%), the mean age at epilepsy onset was 2.6 years, and 77% (83/108) reported consanguinity. WES identified reportable genetic findings in 98 cases (90.7%), classified as pathogenic/likely pathogenic variants (n = 32) or variants of unknown significance (VUS) (n = 66). In the remaining 10 cases (9.3%), no variant considered sufficient to explain the clinical phenotype was identified. The definitive diagnostic yield, defined as pathogenic or likely pathogenic variants explaining the clinical phenotype, was 30% (32/108; 95% CI: 22-39%). Autosomal recessive inheritance accounted for 72% (23/32) of diagnosed cases. When including VUS with strong phenotype correlation, the potential diagnostic yield increased to 60% (65/108). WES results directly influenced clinical management in 5% (5/108) of patients, including targeted metabolic therapy, medication optimization, and avoidance of contraindicated therapies. WES demonstrates significant diagnostic utility in childhood epilepsy, particularly in consanguineous populations with a high burden of autosomal recessive disorders. Integration of WES into the diagnostic workflow enables precision medicine approaches and supports early genetic counseling.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distinct associations of ScGDD1/BC12 transcript abundance and sequence variation with grain size and shape in rye.","authors":"Jolanta Groszyk, Mateusz Przyborowski, Marek Wojciechowski, Justyna Jazowska, Sławomir Sowa","doi":"10.1007/s13353-026-01122-2","DOIUrl":"https://doi.org/10.1007/s13353-026-01122-2","url":null,"abstract":"<p><p>Grain size and shape are important determinants of cereal yield and quality, yet their genetic regulation remains insufficiently characterized in rye (Secale cereale L.). Here, we examined associations of ScGDD1/BC12 transcript abundance and sequence variation with grain morphology in a panel of 91 winter rye genotypes comprising 78 gene bank accessions and 13 breeding materials. Relative transcript abundance was quantified at 14 days after pollination, and grain morphometric traits were evaluated in mature grains. Genome-wide DArTseq data available for 90 genotypes were used to assess population structure and as covariates in association models. Principal component analysis performed exclusively on grain phenotypic traits showed that Grain_PC1 explained 62.88% of the variance and represented overall grain size, whereas Grain_PC2 explained 35.49% and contrasted grain elongation with circularity. ScGDD1/BC12 transcript abundance was higher in breeding materials than in gene bank accessions after adjustment for DArTseq-derived PC1-PC3. Higher transcript abundance was consistently associated with lower thousand-grain weight, grain length, width, area, and perimeter in population-structure-adjusted models. The effect directions and broadly similar magnitudes were retained after additional adjustment for material category, although none of these associations remained significant after false discovery rate correction in the sensitivity models. Sequence analysis identified 182 polymorphisms forming 55 haplotype clusters, while the predicted ScGDD1/BC12 protein sequence was fully conserved. No sequence variant was significantly associated with Grain_PC1 after correction for multiple testing. In contrast, seven variants were associated with Grain_PC2 and circularity after adjustment for DArTseq-derived PC1-PC3. These variants showed moderate-to-strong pairwise correlation r² = 0.334-0.942, indicating a linked association pattern rather than seven independent effects. Their effect directions and magnitudes were largely maintained in models including DArTseq-derived PC1-PC5, but the associations no longer met the false discovery rate threshold. These results identify distinct association patterns between ScGDD1/BC12 transcript abundance, sequence variation, and grain morphology. The findings support ScGDD1/BC12 as a candidate locus for further investigation but do not distinguish direct regulatory effects from linkage with causal variation or establish functional causality.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149206828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From genotype to phenotype: reverse phenotyping of a novel INSR variant in a large family with hyperinsulinemic hypoglycemia.","authors":"Lala Soltanova, Yücel Erbilgin, Yasemin Menkli, Pinar Kadioglu, Müge Sayitoğlu","doi":"10.1007/s13353-026-01121-3","DOIUrl":"https://doi.org/10.1007/s13353-026-01121-3","url":null,"abstract":"<p><p>The insulin receptor gene (INSR) encodes a ligand-activated tyrosine kinase that plays a central role in glucose homeostasis. Pathogenic variants in INSR are associated with a spectrum of insulin resistance syndromes. Here we report a novel INSR variant in a large multigenerational family. A 53-year-old woman presented to the endocrinology clinic with recurrent hypoglycemic episodes. Exome sequencing was performed for the index case, and variant segregation analysis was conducted in family members by Sanger sequencing. Genetic testing revealed a likely pathogenic variant in exon 19 of the INSR gene, NM_000208.4:c.3473G > C,p.(Arg1158Pro). Segregation analysis identified eight heterozygous carriers among thirteen tested family members. Reverse phenotyping revealed recurrent hyperinsulinemic hypoglycemia. Affected individuals demonstrated normal body mass index, low adiposity, and preserved fat-free mass, distinguishing this phenotype from classical insulin-resistance syndromes. Female carriers frequently exhibited hyperandrogenic features including hirsutism, menstrual irregularities, and acanthosis nigricans. These findings expand the clinical spectrum of INSR-related disorders and highlight the importance of considering INSR variants in patients with familial hyperinsulinemic hypoglycemia, particularly when clinical features mimic insulinoma.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bats, wild rodents, and marsupials as ecosentinels of antimicrobial resistance: a systematized narrative review of resistance genes, mobile genetic elements, and One Health implications.","authors":"Jessica A Martins, Ana Luíza Oliveira, Arlei Marcili, Herbert S Soares, Natália C Gaeta","doi":"10.1007/s13353-026-01117-z","DOIUrl":"https://doi.org/10.1007/s13353-026-01117-z","url":null,"abstract":"<p><p>Antimicrobial resistance (AMR) is a major One Health challenge, yet wildlife remains underrepresented in surveillance systems. This systematized narrative review synthesized studies published between 2011 and 2025 on antimicrobial-resistant bacteria in bats, wild rodents, and marsupials, aiming to evaluate their role as reservoirs, disseminators, and ecosentinels of environmental AMR. The search was conducted in PubMed, SciELO, MEDLINE, and Scopus, and original studies reporting bacterial identification and phenotypic or genotypic resistance data were included. A total of 110 studies met the inclusion criteria, comprising rodents (n = 56), bats (n = 37), and marsupials (n = 17). The most frequently reported bacterial groups included Escherichia coli, Staphylococcus spp., Klebsiella pneumoniae, Enterococcus spp., and Salmonella spp. Rodents frequently harbored multidrug-resistant Enterobacterales, including ESBL-producing E. coli and resistance genes associated with last-line antimicrobials, reflecting exposure to urban, agricultural, and waste-contaminated environments. Bats were prominent reservoirs of resistant Staphylococcus spp., including methicillin-resistant strains, and carried clinically relevant Gram-negative bacteria, likely influenced by mobility, diet, colony behavior, and anthropogenic landscape exposure. Marsupials generally showed lower AMR burdens in free-ranging conditions, but captive and rehabilitated individuals exhibited increased resistance, suggesting human-mediated acquisition and amplification. Across host groups, the detection of mobile genetic elements and resistance determinants shared with clinical contexts supports the occurrence of cross-ecosystem exchange. These findings reinforce the need to integrate wildlife into AMR monitoring frameworks as early-warning indicators of environmental contamination and resistance dissemination.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An integrated WGCNA-XGBoost framework for prioritizing candidate stress-responsive hub genes in soybean under nutrient and heavy metal stress conditions.","authors":"Zohreh Hajibarat, Abbas Saidi","doi":"10.1007/s13353-026-01123-1","DOIUrl":"https://doi.org/10.1007/s13353-026-01123-1","url":null,"abstract":"<p><p>Abiotic challenges such as nutrient shortages and heavy metal toxicity dramatically limit soybean yields worldwide. While many transcriptomic investigations have examined responses to single stresses, few have identified regulatory nodes that function across multiple adverse conditions. In this study, we conducted a multi-dataset transcriptomic meta-analysis integrating six RNA-seq experiments comprising 66 samples across nutrient deficiency and heavy-metal stress conditions. Following batch-effect correction using ComBat and variance-based filtering, weighted gene co-expression network analysis identified stress-associated modules. XGBoost was then applied within these modules to prioritize genes with high predictive importance. Prioritized candidate gene hub genes were defined using the combined criteria of strong module membership (|kME| > 0.8) and high XGBoost feature importance. Comparative synteny analysis across leguminous species further supported the evolutionary conservation of several prioritized candidates. These genes represent high-priority targets for future functional validation and crop-improvement studies aimed at enhancing soybean stress resilience.Model robustness was assessed using 5-fold cross-validation and receiver operating characteristic (ROC) analysis, with several genes achieving area under the curve (AUC) values exceeding 0.90. Gene set enrichment analyses revealed coordinated regulation of hormone signaling pathways, cell wall remodeling, nitrate transport, and MAPK signaling cascades. Further synteny analyses showed that several of the identified hub regions are conserved in related legume species, including Phaseolus vulgaris, Vigna unguiculata, and Vigna angularis, highlighting the evolutionary conservation of these stress-responsive modules. Overall, the integrated WGCNA-XGBoost framework identifies conserved regulatory hubs involved in multi-stress responses and provides a powerful systems-biology strategy for prioritizing candidate genes and guiding the development of stress-tolerant soybean cultivars.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149181305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptome profiling of Saccharomyces cerevisiae under 3-bromopyruvate treatment.","authors":"Magdalena Cal-Smok, Jakub Suchodolski, Irwin Matyjaszczyk, Agata Piecuch, Rafał Ogórek","doi":"10.1007/s13353-026-01120-4","DOIUrl":"https://doi.org/10.1007/s13353-026-01120-4","url":null,"abstract":"<p><p>This study provides the first transcriptomic analysis of yeast Saccharomyces cerevisiae exposed to. 3-bromopyruvate (3-BP), focusing on its dose-dependent effects. RNA-Seq analysis was performed using next-generation sequencing. The results showed a positive correlation between 3-BP concentration and the extent of transcriptomic changes, consistent with prior findings that higher 3-BP levels amplify cellular effects. Significant changes across fourteen categories of biological processes were identified, particularly involving genes linked to cell cycle regulation and organic compound metabolism alongside downregulation of key metabolic regulators, including the gene encoding hexokinase 2 (HXK2). The transcriptomic profile aligns with known experimental evidence of 3-BP activity, thereby confirming its impact on key metabolic processes such as glycolysis, alternative carbon metabolism, oxidative phosphorylation, and cellular stress response. What is more, due to the observed altered expression of several transcription factor genes we hypothesize that the pleiotropic effect of 3-BP molecular action may arise from its impact on their regulatory roles.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149181492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying stable and resilient advanced barley (Hordeum vulgare L.) lines analyzed using AMMI and GGE biplot models for grain yield.","authors":"Hossein Mansouri, Ali Arminian, Behrouz Vaezi, Jan Bocianowski","doi":"10.1007/s13353-026-01116-0","DOIUrl":"https://doi.org/10.1007/s13353-026-01116-0","url":null,"abstract":"<p><p>The primary objective of this study was to quantify genotype-by-environment interactions for grain yield, and to evaluate drought tolerance in newly developed advanced barley lines. Sixteen barley lines were evaluated over a four consecutive year (2020-2023) across five distinct agro-ecological zones in Iran under rainfed field conditions. Grain yield ranged from 0.210 t ha^-1 (2022) to 0.376 t ha^-1 (2023), with an overall mean of 1.883 t ha^-1. Analysis of variance indicated that environmental effects were the dominant source of variation, accounting for 87.47% of the total sum of squares and explaining 88.18% of the phenotypic variance ([Formula: see text]). The G×E interaction and genotypic main effects contributed 4.71% and 0.97% of the total variation, respectively. Broad-sense heritability for grain yield was estimated at 66.8%. Based on the additive main effects and multiplicative interaction (AMMI) analysis, lines G9, G8 and G15 showed the highest yield stability, but G14 showed the highest grain yield with acceptable stability across environments. The genotype plus genotype-by-environment (GGE) biplot further identified Lorestan and Ilam as distinct mega-environments, providing a clearer environmental classification than that obtained with the AMMI model. The standard check cultivar G1 (Khorram), together with lines G3, G12, G13, and G14, were identified as superior genotypes in terms of both performance and stability in the GGE biplot analysis. Lines G2 and G9 exhibited enhanced drought tolerance, particularly in the most recent growing season. In the final test environment i.e. Ilam in year 2023, complementary trails revealed that line G14 was characterized by early flowering, a high number of spikes per unit area, increased 1000-grain weight, and strong drought tolerance. Line G13 showed early maturity and pronounced tolerance to stress conditions. Considering the complementary insights provided by the AMMI and GGE biplot models, the identified superior genotypes-especially G9, G8, G14 and G13-are recommended for utilization in future barley breeding programs targeting yield stability and drought-prone environments.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide characterization of histidine kinase genes in Aciculosporium take and their potential roles in cytokinin sensing.","authors":"Yu Gu, Yingchong Liao, Sha Ye, Yan Tang, Huiru Meng, Xing Zhao, Xiaoping Ma","doi":"10.1007/s13353-026-01118-y","DOIUrl":"https://doi.org/10.1007/s13353-026-01118-y","url":null,"abstract":"<p><p>Histidine kinases (HKs) are critical receptors within two-component regulatory systems, helping fungi perceive environmental stimuli. However, the functions of the HKs gene family in Aciculosporium take, which mediates cytokinin (CKs) imbalance during bamboo witches' broom disease, and the mechanisms by which HKs respond to CKs and environmental stimuli remain unelucidated. This study identified 10 AtaHKs genes, categorizing them into 8 groups. Phylogenetic analysis across multiple species suggested that Group I AtaHKs were closely linked to plant pathogenicity. The promoter regions of AtaHKs genes contained enrichment cis-acting elements responsive to carbon catabolism and carbon catabolite repression. RT-qPCR analysis revealed that AtaHK4 expression varied significantly in response to CKs, whereas AtaHK10 was markedly expressed under NaCl stress. According to protein 3D structure simulations and molecular docking, we speculate that the GAF domain may be the functional region responsible for CKs sensing, though it remains untested. This study offers an in-depth analysis of the functional characteristics of the AtaHKs gene family in A. take, thereby enhancing the theoretical understanding of signal transduction mechanisms in plant-pathogen interactions. Additionally, it contributes to the conservation of bamboo forest resources and supports the sustainable development of the bamboo industry.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149167186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular detection of biofilm-related genes and antimicrobial resistance patterns in Pseudomonas aeruginosa isolates from Northern Iran.","authors":"Mohammad Karimbakhsh, Hamid Reza Goli, Yasin Ramezani, Davood Nasiri, Lotfollah Davoodi, Mohammad Asadollahpour, Amir Reza Shahmohammadi, Ali Ehsani, Shaghayegh Rezaei, Mehrdad Gholami","doi":"10.1007/s13353-026-01119-x","DOIUrl":"https://doi.org/10.1007/s13353-026-01119-x","url":null,"abstract":"<p><p>Pseudomonas aeruginosa is widely recognized as one of the primary opportunistic pathogens responsible for a wide range of nosocomial infections, notably in immunocompromised patients. Antibiotic resistance and biofilm formation, as two major virulence factors of P. aeruginosa, are related to the persistence of prolonged infections. This study was designed to (1) evaluate the frequency of multidrug-resistant (MDR) P. aeruginosa in northern Iran and (2) analyze the frequency of biofilm-associated genes and their correlation with antimicrobial patterns. Clinical samples (n = 80) were collected from ICUs and other wards and processed for the isolation and identification of P. aeruginosa. Antimicrobial susceptibility was assessed using disk diffusion. PCR was performed to target the biofilm-associated genes. Out of 80 P. aeruginosa isolates, the prevalence of isolates was highest in the ICU (57.5%), and sputum was the most common specimen type (37%). Piperacillin/tazobactam demonstrated the highest activity (76.2% susceptible), followed by amikacin (52.5% susceptible). Notably, 45% of the isolates were MDR, 52.5% were XDR, while 2.5% were neither MDR nor XDR. The biofilm-associated genes ppyR and pslA were detected in 92.5% and 87.5% of the isolates, respectively, whereas pelA was found in 85% of the isolates. Among the 59 pelA, ppyR, and pslA-positive isolates, 47.45% were MDR, 42.37% were XDR, and 10.18% were non-MDR/XDR. Based on these outcomes, we strongly recommend strict infection prevention and control strategies to limit the transmission of MDR-PA, particularly in hospital settings. Piperacillin/tazobactam remains relatively effective; however, its administration should be guided by antimicrobial stewardship guidelines.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149172262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}