PeerJ最新文献

{"title":"From lowlands to highlands: how elevation and habitat complexity drive anuran multidimensional diversity?","authors":"Iuri Ribeiro Dias, Kássio de Castro Araújo, Jorge Mario Herrera-Lopera, Caio Vinícius de Mira-Mendes, Tadeu Teixeira Medeiros, Marcos Ferreira Vila Nova, Marcelo Felgueiras Napoli, Mirco Solé","doi":"10.7717/peerj.19561","DOIUrl":"https://doi.org/10.7717/peerj.19561","url":null,"abstract":"<p><strong>Background: </strong>Montane environments in Neotropical regions are known for their rich diversity of amphibians, but the ecological drivers behind this diversity along altitudinal gradients remain poorly understood. We investigated the effects of the altitudinal range and local environmental variables on the taxonomic, phylogenetic, and functional alpha and beta diversity of anuran assemblages along an altitudinal gradient in the Atlantic Forest of northeastern Brazil.</p><p><strong>Methods: </strong>We characterized the richness, abundance, taxonomic, functional, and phylogenetic diversity of anurans in 24 transects within the interior of the forest along an altitudinal range of 200-950 m in the Private Reserve of Natural Heritage (RPPN) Serra Bonita, southern Bahia state, northeastern Brazil. For each transect, we measured the following environmental variables: altitude, leaf litter depth and cover, canopy opening, number of tank-bromeliads, number of trees, and mean air temperature.</p><p><strong>Results: </strong>We found 36 anuran species distributed in 10 families. Altitudinal strata plays an important role in explaining anuran abundance, with direct-developing frogs being the most abundant species. The number of tank-bromeliads was interpreted as having the most substantial support to explain the anuran abundance, lineage richness and functional diversity, whereas leaf litter depth influenced the dominant lineages. Additionally, altitude significantly influenced taxonomic and phylogenetic dissimilarity. Lastly, we found an inverse pattern of altitudinal Rapoport's rule, in which species with optimal altitudes in the highlands exhibit a lower range-size distribution, likely due to habitat specialization or micro-endemism at higher altitudes.</p><p><strong>Conclusion: </strong>Altitude significantly influenced the abundance, taxonomic composition, and phylogenetic diversity of anuran communities, with higher elevations supporting a greater number of individuals and distinct evolutionary lineages. In contrast, functional diversity did not vary with altitude, suggesting functional redundancy, where different species perform similar ecological roles, thereby maintaining community resilience. Local factors, such as the number of tank-bromeliads and leaf litter depth, were also key variables shaping community structure. Given the high species turnover and the presence of unique evolutionary lineages, especially in the highlands, conservation efforts should prioritize the protection of the entire montane habitat to sustain the ecological and evolutionary processes that support this exceptional biodiversity. Understanding how species are distributed and identifying the most important filters of anuran diversity along altitudinal gradients in the Atlantic Forest is essential for developing management plans and conservation actions in this threatened region that harbors one of the world's most remarkable assemblages of anurans.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e19561"},"PeriodicalIF":2.4,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12514998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective study: anthropometric and metabolic characteristics of patients with metabolic syndrome-a gender-specific analysis of clinical and correlation patterns.","authors":"Yingxin Li, Huanhua Wu, Yingtong Lu, Jingjie Shang, Yong Cheng, Xiaozheng Cao, Zhiqiang Tan, Qijun Cai, Hao Xu, Bin Guo","doi":"10.7717/peerj.20183","DOIUrl":"https://doi.org/10.7717/peerj.20183","url":null,"abstract":"<p><strong>Background: </strong>Metabolic syndrome (MetS) is a prevalent condition associated with increased cardiometabolic risk. Despite its clinical significance, the relationships between anthropometric indices and metabolic markers-particularly in a gender-specific context-remain inadequately explored.</p><p><strong>Methods: </strong>This retrospective study included 104 patients diagnosed with MetS between 2016 and 2022. Anthropometric indices, including body roundness index (BRI), body mass index (BMI), waist-to-height ratio (WHtR), and weight-to-waist index (WWI), were analyzed for their associations with metabolic markers reflecting insulin resistance and glucose metabolism: fasting blood glucose (FBG), fasting insulin (FIns), and homeostatic model assessment of insulin resistance (HOMA-IR). These markers represent key components of MetS, although other diagnostic elements such as dyslipidemia and hypertension were beyond the scope of this analysis. Gender-specific subgroup analyses were conducted for 57 female and 47 male patients.</p><p><strong>Results: </strong>Significant differences in anthropometric and metabolic characteristics were observed between genders. Male patients exhibited higher BMI (40.4 [37.5, 44.2] <i>vs</i>. 37.2 [33.6, 40.3], <i>p</i> = 0.022), waist circumference (128.0 [120.2, 137.5] cm <i>vs</i>. 115.0 [106.0, 120.0] cm, <i>p</i> < 0.001), and FIns levels (22.8 [16.4, 29.5] μIU/mL <i>vs</i>. 17.8 [15.0, 23.4] μIU/mL, <i>p</i> = 0.107). Correlation analyses revealed that BMI and BRI were strongly associated with HOMA-IR and FIns in both genders, with stronger associations observed in males (<i>e.g</i>., BMI <i>vs</i>. FIns, r = 0.60, <i>p</i> < 0.001). WHtR was significantly correlated with metabolic markers in males but not in females. WWI showed limited correlations across both genders.</p><p><strong>Discussion: </strong>This study highlights distinct gender-specific patterns in the relationships between anthropometric indices and metabolic markers in MetS patients. These findings underscore the importance of tailored strategies in managing MetS, particularly considering gender-based differences in clinical and metabolic profiles.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e20183"},"PeriodicalIF":2.4,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12515002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of two field preservation methods on genotyping success of feces.","authors":"Valentina Valencia-Montoya, Isabel Salado, Ines Sanchez-Donoso, Alberto Fernández-Gil, Carles Vilà, Jennifer A Leonard","doi":"10.7717/peerj.20154","DOIUrl":"10.7717/peerj.20154","url":null,"abstract":"<p><p>Non-invasive samples, such as feces, remain an important source of DNA for genetic analyses in molecular ecology and conservation genetics, especially when working with elusive or endangered species. However, as labs transition to higher throughput and genomic-based technologies, many protocols that have been used for decades are becoming obsolete. New approaches have been developed for high-quality samples, now low-quality samples require further technical advances. Fecal samples obtained for non-invasive wildlife studies are typically of very low quality and sampling methods need to be optimized to reduce work and costs per sample. Preservation methods in the field affect the workload in the lab required to obtain genetic data, as well as the final genotype quality. Liquid preservation methods, such as nucleic acid preservation (NAP) buffer and ethanol, have been used during sampling to maintain DNA quality at room temperature until samples can reach the lab. NAP buffer is a non-hazardous, non-flammable solution (easy to send through post), and avoids having to dry the feces before DNA extraction (saving time and increasing safety). Here we compare two different liquid preservation methods (NAP buffer and 96% ethanol) for microsatellite genotyping by next generation sequencing of wolf fecal samples collected in the field and shipped at ambient temperature. Samples preserved in ethanol showed a higher rate of amplification and genotyping success than in NAP buffer, especially due to a higher rate of allelic dropout in NAP. Consequently, the number of replicates required to achieve high quality genotypes was slightly higher for fecal samples preserved in NAP buffer than for those preserved in ethanol. These results are important for the planning and optimization of projects that involve microsatellite genotyping from feces using high throughput technologies.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e20154"},"PeriodicalIF":2.4,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12514995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of NEUROG1 methylation status in stool specimens in the advanced adenomas and colorectal cancer.","authors":"Lijin Zhang, Aiping Lin, Jie Lin, Juan Chen, Mengshi Chen, Xunbin Yu, Yijuan Wu, Tao Wang, Yan Lu, Zhaofen Ba, Xiaowei Cheng, Tiantian Zhang, Minghong Chen","doi":"10.7717/peerj.19968","DOIUrl":"https://doi.org/10.7717/peerj.19968","url":null,"abstract":"<p><strong>Background: </strong>To assess the status of NEUROG1 methylation in the advanced adenoma and colorectal cancer.</p><p><strong>Methods: </strong>The NEUROG1 methylation in tissue and stool samples from patients with colorectal cancer (CRC), advanced adenoma (AA), and non-advanced adenoma (NAA) were evaluated using methylation-specific quantitative polymerase chain reaction (PCR).</p><p><strong>Results: </strong>In tissue samples, the NEUROG1 methylation detection rates were 36% for CRC, 24% for NAA, and 88% for AA. In stool samples, the NEUROG1 methylation detection had a sensitivity of 63.46% for CRC with a positive predictive value (PPV) of 85.94%. The overall diagnostic specificity of the test for the NAA and the healthy control was 76.32%, with a negative predictive value (NPV) of 40.28%.</p><p><strong>Conclusion: </strong>NEUROG1 methylation detection can potentially be used in the CRC and AA screening.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e19968"},"PeriodicalIF":2.4,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12514994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Barriers to care and the need for dental educational materials for the Lowe syndrome community: a survey of dentists.","authors":"Adam Lowenstein, Matthew Finkelman, Jay Dalal, Crystal Smith, Glory Ogunyinka, David Tesini, Carlos Fernando Mourão","doi":"10.7717/peerj.20174","DOIUrl":"https://doi.org/10.7717/peerj.20174","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to assess dentists' experience in treating individuals with Lowe syndrome (LS), reasons they may be unable to provide dental care for individuals with LS, and perceptions of the need for educational materials tailored to the LS community regarding the dental setting.</p><p><strong>Methods: </strong>A link to an electronic Qualtrics survey addressing these topics was emailed to the Tufts University School of Dental Medicine Alumni Network listserv.</p><p><strong>Results: </strong>Data from 73 respondents were analyzed. Of the 57 who answered the question about having treated a patient with LS, three (5.3%) responded affirmatively. Among the 61 who answered why they might not be able to treat an individual with LS, the most common reasons were lack of experience treating children with special needs and not accepting medical assistance such as Medicaid/Medicare (both 31.1%). Of the 58 who responded to the item regarding the need for educational materials to support patients with LS in the dental setting, 47 (81.0%) agreed or strongly agreed.</p><p><strong>Conclusion: </strong>Substantial barriers to dental care exist for individuals with LS. Educational materials about the dental setting should be developed for the LS community.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e20174"},"PeriodicalIF":2.4,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12515000/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal treatment options for acne scars in patients with historic acne: a systematic review and network meta-analysis.","authors":"Bingwei Wu, Mingju Gao, Yixuan Zhang, Xinping Bai","doi":"10.7717/peerj.19938","DOIUrl":"https://doi.org/10.7717/peerj.19938","url":null,"abstract":"<p><strong>Background: </strong>Acne is a common skin condition that can cause permanent scarring and profoundly affect patients' quality of life. Despite the increasing diversity of acne scar treatments, there is a dearth of comprehensive evidence-based guidelines to help clinicians and patients make the best choices. This study aimed to comprehensively assess the efficacy and safety of existing acne scar treatments through a network meta-analysis.</p><p><strong>Method: </strong>PubMed, Embase, Cochrane Library, and Web of Science were thoroughly searched for relevant studies from database establishment to September 19, 2024. Outcome included Echelle d'evaluation clinique des cicatrices d'acne (ECCA), Goodman and Baron Scale (GBS), pain, patient satisfaction, and adverse events. Bayesian network meta-analyses were performed using the gemtc package in R. Risk of bias was assessed using Cochrane Risk of Bias (RoB 2) tool, while publication bias was assessed <i>via</i> funnel plots. The study protocol was registered with PROSPERO (CRD42024598780).</p><p><strong>Results: </strong>A total of 68 randomized controlled trials were enrolled, comprising 4,480 patients with acne scarring. Laser + platelet-rich plasma (PRP) ranked best in reducing ECCA scores (surface under cumulative ranking curve to the total area (SUCRA): 98.4%), laser + filler injection ranked best in reducing GBS (SUCRA: 72.1%), and laser + chemical peels ranked the best in patient satisfaction (SUCRA: 89.6%). Microneedling was ranked as the most tolerable in terms of pain (SUCRA: 72.6%). In addition, no strong evidence suggesting a treatment reduced the risk of erythema nor post-inflammatory hyperpigmentation compared to the other treatments.</p><p><strong>Conclusions: </strong>The evidence suggests laser combined with PRP or filler injections are the best options for reducing scar severity, while laser combined with chemical peeling yields the best patient satisfaction. Laser combined with other therapies should be considered to optimize treatment of acne scarring.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e19938"},"PeriodicalIF":2.4,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12515001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Geology correlates with gut microbial community composition in the Mountainsnails (Oreohelicidae: <i>Oreohelix)</i>.","authors":"Ian M Oiler, T Mason Linscott, Christine E Parent","doi":"10.7717/peerj.20080","DOIUrl":"10.7717/peerj.20080","url":null,"abstract":"<p><strong>Background: </strong>Species that require soil mineral macronutrients for survival may depend on specific microbiome communities to aid in nutrient processing. Land snails, which utilize environmental minerals to synthesize a shell of calcium carbonate (CaCO₃), may rely on or possess distinct gut microbiome communities depending on soil mineral characteristics. Here, we investigate whether the occurrence of calcareous <i>vs.</i> non-calcareous soils is associated with shifts the composition of the gut microbiome of the calciphilous and highly diverse land snail genus <i>Oreohelix</i> from the Western United States.</p><p><strong>Methods: </strong>We collected snail and soil samples from nine sites in central Idaho: five near, and four away from calcium-rich geology. We sequenced the V4 region of the 16S rRNA gene of these samples to assess the gut microbiome compositions of <i>Oreohelix</i> land snails on and off calcium-rich substrates. After data clean-up and filtering we had 68 snail and 25 soil microbiome samples.</p><p><strong>Results: </strong>We found that snail gut microbiomes differed significantly from the surface soil microbiome, with many amplicon sequence variants being unique and ubiquitous in the snails. We also found small, but significant, differences between snails on and off calcium-rich rocks. Our findings indicate that the gut microbial community assembly process of land snails is complex and does not reflect a simple relationship with the underlying soil microbiome. While we find a pattern of differences associated with the proximity of calcium-rich geology, the snail microbiome communities are likely forming based on a variety of other factors, including diet and host filtering. Furthermore, we found multiple microbial taxa that were ubiquitous in the snails and rare in the nearby substrate microbiomes. Future work should focus on disentangling the role of habitat and the functional importance (or lack thereof) of the microbial taxa that are common to almost every sampled snail.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e20080"},"PeriodicalIF":2.4,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of animal models for immune premature ovarian insufficiency.","authors":"Anchun Hu, Yanli Mu, Guanyou Huang, Shuyun Zhao","doi":"10.7717/peerj.20091","DOIUrl":"10.7717/peerj.20091","url":null,"abstract":"<p><p>Premature ovarian insufficiency (POI) severely impacts women's reproductive and overall health, yet effective treatments remain elusive. Research on its pathogenic mechanisms and therapeutic strategies is therefore critical. Due to the scarcity of ovarian samples from POI patients, animal models have become indispensable tools for investigation. Notably, immune-related POI accounts for an increasing proportion of cases, with over half of idiopathic POI cases hypothesized to involve immune dysregulation. Consequently, immune-mediated POI animal models are widely used to study immune-related mechanisms. This article compares the advantages, limitations, and applications of various immune-related POI animal models, aiming to guide researchers in selecting the most appropriate model for their specific research goals and experimental designs.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e20091"},"PeriodicalIF":2.4,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The safety and efficacy of phosphodiesterase type 5 inhibitors in the treatment of diabetic erectile dysfunction: a systematic review and meta-analysis.","authors":"Zexin Zhu, Jian Xu, Bo Dai, Minghao Lin, Huhu Yang, Shilin Liu, Pengjie Bao, Zheng Nan","doi":"10.7717/peerj.20147","DOIUrl":"https://doi.org/10.7717/peerj.20147","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have confirmed the efficacy of phosphodiesterase type 5 inhibitors (PDE-5 inhibitors) in treating diabetic erectile dysfunction (DED), but they still have research value in terms of efficacy comparison and individualized safety. This study, while evaluating safety and efficacy, also focused on the sources of heterogeneity and innovatively explored the nonlinear relationship between therapeutic effect and age.</p><p><strong>Aim: </strong>This study aimed to systematically evaluate the safety and efficacy of PDE-5 inhibitors for the treatment of DED and the related application effects and to provide a clinical basis for its treatment.</p><p><strong>Methods: </strong>By searching PubMed, Embase, Web Of Science, Cochrane Library, China Knowledge Network (CNKI), Wipro (VIP), Wanfang, and China Biomedical Literature Database (CBM) before December 31, 2024, and reading the retrieved articles and references, PDE-5 inhibitors for diabetic erectile dysfunction in randomized controlled trials (RCTs). The literature of the included studies was evaluated using the Cochrane Literature Quality Assessment Tool. The meta-analysis was registered to PROSPERO (CRD42025637725).</p><p><strong>Outcomes: </strong>The International Index of Erectile Function (IIEF-5) overall and related evaluation questionnaires were used as the primary efficacy evaluation indicators, and adverse events were used as secondary indicators.</p><p><strong>Results: </strong>Meta-analysis was performed using Rever Manager 5.3 and STATA18 software. A total of 10 studies were included, and random-effects model meta-analysis analyzed the post-treatment efficacy of the 10 articles with a combined RR = 2.91, 95% CI of [1.95-4.34], <i>P</i> < 0.001. Fixed-effects model meta-analysis investigated adverse effects with RR = 2.0, 95% CI of [1.53-2.61], <i>P</i> < 0.001. There was a non-linear relationship between age and PDE-5 inhibitors.</p><p><strong>Conclusion: </strong>PDE-5 inhibitors can safely and effectively improve diabetic erectile dysfunction, but the degree of effectiveness of different types of drugs, the occurrence of related adverse effects, and the differences that exist between individuals still need to be taken into account during use.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e20147"},"PeriodicalIF":2.4,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive analysis of DNA methylation patterns in recurrent miscarriage: imprinted/non-imprinted genes and their regulation across sperm and fetal-maternal tissues.","authors":"Yanru Niu, Lanlan Yin, Yulan Zhou, Xiaoyan Pang, Yunqinq Li, Cailing Peng, Meihua Yao, Guoling Zhang, Kaijie Yang, Tianzhong Ma","doi":"10.7717/peerj.20125","DOIUrl":"https://doi.org/10.7717/peerj.20125","url":null,"abstract":"<p><strong>Background: </strong>Epigenetic regulation, including DNA methylation, is essential for normal embryonic development and maternal-fetal interactions. Recurrent miscarriage (RM), defined as the loss of two or more consecutive pregnancies, poses significant clinical and emotional challenges. However, the role of epigenetic alterations in RM, particularly in gametes and placental tissues, remains underexplored. This study aims to investigate global DNA methylation profiles and imprinting gene expression in the context of RM, providing insights into epigenetic mechanisms that contribute to pregnancy failure.</p><p><strong>Methods: </strong>Genome-wide DNA methylation profiling was performed on sperm and chorionic villi from RM patients and control couples undergoing artificial abortion using the Illumina HumanMethylation 450 BeadChip platform. Genes related to differentially methylated probes (DMPs) in functionally critical genomic regions, including enhancers, promoters, and DNase hypersensitive sites (DHS), were identified and submitted to Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. Key imprinting genes (<i>CPA4</i> and <i>PRDM16</i>) were validated at the protein level using Western blotting.</p><p><strong>Results: </strong>RM samples exhibited a significant increase in hypermethylated DMPs across all analyzed tissues, with villi and decidua showing the highest numbers of epigenetic changes. Enrichment analyses highlighted pathways implicated in tissue morphogenesis, immune regulation, and cell signaling, including the PI3K-Akt, TGF-beta, and Wnt signaling pathways. Among imprinting genes, <i>CPA4</i> and <i>PRDM16</i> showed distinct hypomethylation at enhancer regions, corresponding to elevated protein expression in RM villi tissues.</p><p><strong>Conclusions: </strong>This study identifies profound epigenetic dysregulation in RM-associated tissues, emphasizing the contribution of imprinting gene methylation abnormalities to pregnancy loss. Future studies incorporating functional assays and animal models are essential to elucidate the causal roles of candidate genes in RM pathogenesis and maternal-fetal health.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e20125"},"PeriodicalIF":2.4,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}