HematologyPub Date : 2025-12-01Epub Date: 2025-06-05DOI: 10.1080/16078454.2025.2506858
Weiru Liang, Rui Kang, Yufei Zhao, Lingxiao Xing, Baohang Zhang, Yimeng Shi, Yuan Li, Guangxin Peng, Xin Zhao, Xu Liu, Jing Hu, Xiangrong Hu, Kang Zhou, Yang Yang, Youzhen Xiong, Jianping Li, Huihui Fan, Wenrui Yang, Lei Ye, Liping Jing, Li Zhang, Fengkui Zhang
{"title":"Luspatercept for the treatment of lower-risk myelodysplastic syndrome with SF3B1 mutation: a real-world single-center research in China.","authors":"Weiru Liang, Rui Kang, Yufei Zhao, Lingxiao Xing, Baohang Zhang, Yimeng Shi, Yuan Li, Guangxin Peng, Xin Zhao, Xu Liu, Jing Hu, Xiangrong Hu, Kang Zhou, Yang Yang, Youzhen Xiong, Jianping Li, Huihui Fan, Wenrui Yang, Lei Ye, Liping Jing, Li Zhang, Fengkui Zhang","doi":"10.1080/16078454.2025.2506858","DOIUrl":"https://doi.org/10.1080/16078454.2025.2506858","url":null,"abstract":"<p><strong>Background: </strong>Luspatercept, approved by the FDA and EMA for patients with transfusion-dependent lower-risk myelodysplastic syndrome (LR-MDS) unresponsive to erythropoiesis-stimulating agents (ESAs), lacks extensive real-world data, particularly in China.</p><p><strong>Methods: </strong>We retrospectively analyzed 14 LR-MDS-SF3B1 patients treated with luspatercept for ≥12 weeks.</p><p><strong>Results: </strong>Median age was 60 years (range 47-72); 42.9% were male. Before treatment, 78.6% were transfusion-dependent, and 42.9% had prior ESA therapy. At median 24-week follow-up (range 12-44), erythroid response rates were 71.43% (week 12), 75.00% (week 16), and 62.50% (week 24). Hemoglobin levels significantly improved at weeks 12 and 24 (<i>P</i> = 0.013, <i>P</i> = 0.005). No grade 3-4 adverse events occurred. Hematologic improvement-erythroid (HI-E) patients exhibited higher white blood cells, neutrophils, and reticulocytes at week 12 versus non-HI-E patients. Bone marrow analysis revealed erythroid hyperplasia in HI-E patients, with higher erythrocyte percentage (56.00% vs. 34.00%, <i>P</i> = 0.023), lower myeloid-to-erythroid ratio (0.60 vs. 1.59, <i>P</i> = 0.024), and increased polychromatic erythroblasts (19.50% vs. 10.00%, <i>P</i> = 0.034).</p><p><strong>Conclusions: </strong>Luspatercept demonstrated efficacy and safety in Chinese LR-MDSSF3B1 patients. Greater erythroid hyperplasia correlated with better clinical response.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2506858"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
HematologyPub Date : 2025-12-01Epub Date: 2025-08-13DOI: 10.1080/16078454.2025.2543619
Nianbin Li, Ting Wang, Boyi Wang, Rong Fu
{"title":"Multi-omics analysis links NFKB1 activation to poor immunosuppressive therapy response in acquired aplastic anemia.","authors":"Nianbin Li, Ting Wang, Boyi Wang, Rong Fu","doi":"10.1080/16078454.2025.2543619","DOIUrl":"10.1080/16078454.2025.2543619","url":null,"abstract":"<p><strong>Objectives: </strong>Acquired aplastic anemia (AA) is a bone marrow failure syndrome whose pathogenesis remains incompletely understood. This study aimed to explore the genetic determinants underlying AA and identify potential therapeutic targets.</p><p><strong>Methods: </strong>We integrated summary data - based Mendelian randomization (SMR) and colocalization analysis to identify genes causally linked to AA. Key candidates were validated using single-cell RNA sequencing to assess their expression and pseudotime dynamics. We explored B-cell - mediated cell communication related to immunosuppressive therapy response. Serum expression of candidate genes was validated and correlated with clinical outcomes.</p><p><strong>Results: </strong>SMR analysis identified 28 genes significantly associated with AA, among which NFKB1 emerged as a central regulatory factor. scRNA-seq data confirmed NFKB1's differential expression in B cells and its dynamic regulation during disease progression. Discussion and conclusion: This study is the first to comprehensively characterize the role of NFKB1 in the pathogenesis of AA through integrated multi-omics analysis and providing novel insights for the development of targeted interventions.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2543619"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144845833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
HematologyPub Date : 2025-12-01Epub Date: 2025-08-19DOI: 10.1080/16078454.2025.2547455
Yingying Sun, Jinyue Yang, Lijuan Li, Jia Song, Xifeng Dong, Rong Fu, Huaquan Wang
{"title":"Comparative analysis of primary immune thrombocytopenia and immune thrombocytopenia secondary to connective tissue diseases.","authors":"Yingying Sun, Jinyue Yang, Lijuan Li, Jia Song, Xifeng Dong, Rong Fu, Huaquan Wang","doi":"10.1080/16078454.2025.2547455","DOIUrl":"10.1080/16078454.2025.2547455","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the differences between primary immune thrombocytopenia (ITP) and ITP secondary to connective tissue disease (CTD-ITP).</p><p><strong>Methods: </strong>A retrospective observational study was conducted on patients newly diagnosed with primary ITP and CTD-ITP hospitalized in the Hematology Department of Tianjin Medical University General Hospital from July 1, 2019 to December 31, 2023. Data, including demographic details, medical history records, and laboratory test results, were collected, followed by a comparative analysis to identify differences between the groups.</p><p><strong>Results: </strong>Compared with patients in the primary ITP group, those in the CTD-ITP group exhibited a female predominance, along with lower platelet and hemoglobin levels. Total globulin and immunoglobulin G (IgG) concentrations were higher in the CTD-ITP group than in the primary ITP group, whereas albumin, complement C3, and C4 levels were lower. Antinuclear antibody titers were higher in the CTD-ITP group, and the percentages of regulatory B (Breg) cells and transitional B cells were lower. A greater percentage of abnormal megakaryocytes was observed in the CTD-ITP group. Furthermore, a larger proportion of patients in the CTD-ITP group met treatment criteria, necessitated more intensive therapy, and required a longer duration to achieve complete remission.</p><p><strong>Conclusion: </strong>Compared with patients in the primary ITP group, those in the CTD-ITP group had more severe conditions, more intense immune disturbances, and greater treatment challenges. Individualized treatment is needed.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2547455"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144873006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Relationship of prognostic nutritional index with anemia and all-cause mortality: a NHANES study.","authors":"Yongjin Zhi, Shuojing Bao, Jingcheng Mao, Hui Zhu, Jianfeng Zhu","doi":"10.1080/16078454.2025.2536402","DOIUrl":"https://doi.org/10.1080/16078454.2025.2536402","url":null,"abstract":"<p><strong>Background: </strong>The present study systematically explores the correlation between the Prognostic Nutritional Index (PNI) and anemia, and further analysis of its association with all-cause mortality among populations affected by anemia.</p><p><strong>Methods: </strong>Data were taken from the National Health and Nutrition Examination Survey (NHANES) from 2005 to 2018. We utilized multiple logistic regression models, Cox proportional hazards models, restricted cubic spline (RCS) analysis, and time-dependent receiver operating characteristic (ROC) analysis. As for the verification of the result robustness, subgroup and sensitivity analyses were implemented.</p><p><strong>Results: </strong>A cohort of 28,511 participants was examined, of whom 2647 (9.28%) had anemia. An inverse relationship of PNI with anemia was detected in the fully adjusted model (OR = 0.82, 95%CI: 0.80-0.84). Cox regression showed that lower PNI levels were linked to higher all-cause mortality in people with anemia (HR = 0.91, 95%CI: 0.88-0.95). A non-linear correlation between PNI and mortality was detected through RCS analysis (<i>P</i> < 0.001). Significant interaction effects of PNI with mortality were observed across diabetes and BMI subgroups (<i>P</i> < 0.05). The predictive power of PNI for all-cause mortality among anemia individuals showed areas under the curve (AUC) values of 0.702, 0.806, and 0.813 for 3-, 5-, and 10-year predictions, respectively.</p><p><strong>Conclusion: </strong>PNI demonstrates a negative association with anemia and a similar negative relationship with all-cause mortality in individuals with anemia. Future studies are warranted to substantiate these findings.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2536402"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Exploring potential causal effects of circulating inflammatory proteins on hematologic malignancies and identifying cross-cancer drug targets: a Mendelian randomization study.","authors":"Chaoqun Lu, Minghui Wang, Jiang Li, Huajian Xian, Zixuan Huang, Yixin Wang, Shufeng Xie, Wenjie Zhang, YaoYifu Yu, Huijian Zheng, Dan Li, Yuling Zheng, Han Liu, Chunjun Zhao","doi":"10.1080/16078454.2025.2538327","DOIUrl":"https://doi.org/10.1080/16078454.2025.2538327","url":null,"abstract":"<p><strong>Background: </strong>Although a substantial body of research has underscored the pivotal role of inflammatory proteins in hematologic malignancies, precise understanding of the underlying mechanisms is limited. Therefore, it's necessary to explore the possible causal relationships between specific circulating inflammatory proteins and these malignancies by using a genome-wide association approach.</p><p><strong>Methods: </strong>To evaluate the possible causal effects, we performed a two-sample Mendelian randomization (MR) study. Summary statistics for 91 proteins, sourced from large-scale genome-wide association studies, were integrated with data on 11 hematologic malignancies from the FinnGen consortium. Inverse variance weighting was applied as the primary method for MR analysis, with detailed sensitivity analyses conducted to ensure robustness. Furthermore, protein-protein interaction analysis and cross-cancer effect assessments were performed to identify potential common drug targets.</p><p><strong>Results: </strong>Our analysis demonstrated both positive and negative associations of circulating inflammatory proteins on the development of 11 hematologic malignancies. Nine proteins exhibited cross-cancer effects. MCP-1, CXCL8, IL-1α, and SCF were associated with an increased risk of hematologic malignancies, while IFN-γ, IL-10, CD40, SULT1A1, and CXCL5 were associated with a reduced risk.</p><p><strong>Conclusions: </strong>The results of the study provided possible causal evidence for the involvement of circulating inflammatory proteins in the pathogenesis of eleven hematologic malignancies. Nine proteins with cross-cancer effects were of special interest, and their potential as targets in the therapeutic intervention of blood malignancies was highlighted.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2538327"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144753168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Beyond ISS staging: the prognostic value of the Inflammation Prognostic Score Index (IPSI) in multiple myeloma.","authors":"Xiaomei Huang, Jing Wu, Shiying Li, Qinglan Lu, Xunjun Huang, Ruolin Li","doi":"10.1080/16078454.2025.2549959","DOIUrl":"https://doi.org/10.1080/16078454.2025.2549959","url":null,"abstract":"<p><strong>Objectives: </strong>To establish a novel Inflammation Prognostic Score Index (IPSI) and evaluate its prognostic value and complementary role to the International Staging System (ISS) in newly diagnosed multiple myeloma (MM).</p><p><strong>Methods: </strong>This retrospective study analyzed 98 newly diagnosed MM patients. ROC-derived cutoffs stratified patients by RDW, PLT, NMLR, SII, and SIRI. The IPSI was constructed by assigning 1 point each to elevated RDW, low PLT, and high NMLR, defining three risk groups: 0-1, 2, and 3 risk factor groups. Survival and ISS correlations were evaluated using Kaplan-Meier, Cox, and Spearman's tests.</p><p><strong>Results: </strong>Multivariate analysis confirmed RDW, PLT, and NMLR as independent predictors of overall survival (OS) (all <i>P</i> < 0.05). Based on these, IPSI stratified patients into three risk groups: 0-1, 2, and 3 risk factor groups, with median OS of 24, 21.5, and 14 months, respectively (log-rank <i>P</i> < 0.001). IPSI was an independent prognostic factor (2-risk-factors group: HR = 8.74; 3-risk-factors group: HR = 18.98 vs 0-1-risk-factors group; both <i>P</i> < 0.001) and correlated with ISS stage (<i>r</i><sub><i>s</i></sub> = 0.35, <i>P</i> < 0.001). Critically, IPSI refined risk stratification within all ISS subgroups (<i>P</i> < 0.001). SII and SIRI correlated with ISS but were not independent prognostic factors.</p><p><strong>Conclusions: </strong>As an independent prognostic index that integrates RDW, PLT, and NMLR, IPSI optimizes ISS staging and provides a cost-effective risk stratification tool. It may be a good measure indice of identifying high-risk MM patients in resource constraint setting where access to molecular testing is not available.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2549959"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144952116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Distribution for platelet antibody in patients with immune-mediated platelet transfusion refractoriness.","authors":"Bing Zhang, Kairong Ma, Xinyu Huang, Xiaozhen Hong, Ying Liu, Zhipan Wu, Xianguo Xu, Faming Zhu","doi":"10.1080/16078454.2025.2549969","DOIUrl":"https://doi.org/10.1080/16078454.2025.2549969","url":null,"abstract":"<p><strong>Objectives: </strong>HLA Class I, HPA (Human platelet antigen), CD36 allo/isoantibodies, and platelet glycoprotein autoantibodies are the primary causes of immune-mediated platelet transfusion refractoriness (iPTR). Detecting these antibodies and selecting antigen-negative platelets for transfusion effectively manages iPTR, but large-scale data on platelet antibody distribution in the Chinese population are scarce.</p><p><strong>Methods: </strong>From Jan 2021 to Dec 2023, 2073 patients with suspected iPTR underwent platelet cross-matching via solid-phase red blood cell adherence. Sera from those with positive cross-matching (≥1 donor) were analyzed for platelet antibodies using Luminex. Correlations between antibody prevalence, age, gender, and diseases were statistically analyzed.</p><p><strong>Results: </strong>621 patients, 30.0% (621/2073) had positive cross-matching with ≥1 donor. Furthermore, 374 (60.2%) patients had platelet antibodies. Moreover, 429 antibodies were detected in these patients, and the constituent ratios of HLA Class I alloantibodies, HPA alloantibodies, autoantibodies (GPIIb/IIIa, etc), and CD36 isoantibodies were 78.09%, 4.65%, 17.01%, and 0.23%, respectively. Abs ranked as follows: HLA Class I > GPIIb/IIIa > GPIa/IIa > HPA-5b, GPIb/IX > HPA-3a > HPA-1b, 2b > HPA-3b, 4b, CD36. Lastly, positive platelet antibodies prevalence correlated with age and sex in leukemia and solid tumor patient groups.</p><p><strong>Discussion: </strong>This study clarified platelet antibody distribution in Chinese iPTR patients. Besides HLA Class I antibodies, autoantibodies against platelet glycoproteins play a key role. Among HPA antibodies, HPA-5b may predominate in the Chinese population instead of HPA-1a.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2549969"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144952123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Anemia increases the risk of venous thromboembolism? Insights from genome-wide association studies.","authors":"Jieni Yu, Jingli Li, Leihua Fu, Zhe Chen, Chunjiang Liu, Pan Hong, Weiying Feng, Liming Tang, Wenzhen Ruan, Chao Xu","doi":"10.1080/16078454.2025.2555039","DOIUrl":"https://doi.org/10.1080/16078454.2025.2555039","url":null,"abstract":"<p><strong>Objective: </strong>Venous thromboembolism (VTE) is a significant global health concern. Recent investigations indicate that anemia may increase the risk of VTE. Nevertheless, the presence of confounding variables in observational studies has rendered the causal association between anemia and VTE inconclusive.</p><p><strong>Methods: </strong>This study utilized a two-sample Mendelian Randomization methodology, employing genetic variants derived from specific large-scale genome-wide association studies as instrumental variables to investigate the causal relationship between anemia and VTE. Rigorous statistical analyses were conducted, including the primary analysis based on the inverse-variance weighted (IVW) method, along with supplementary analyses such as MR-Egger, weighted median, and MR-PRESSO, to ensure the reliability and validity of our results.</p><p><strong>Results: </strong>Our analysis suggests a potential causal association between anemia and certain thrombotic events. Anemia was associated with an increased risk of thrombosis and embolism in unusual sites (OR = 1.446, 95% CI: 1.104-1.895, <i>p</i> = 0.007), while aplastic anemia showed a weak positive association with overall VTE risk (OR = 1.065, 95% CI: 1.003-1.131, <i>p</i> = 0.040).</p><p><strong>Conclusions: </strong>Anemia individuals face an increased risk of embolism and thrombosis events, and AA exhibits a potential association with VTE. Nevertheless, a comprehensive comprehension of the precise underlying mechanisms linking anemia/AA and VTE necessitates further exploration through supplementary research.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2555039"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Efficacy and safety of hematopoietic stem cell transplantation vs. immunosuppressive therapy in patients with hepatitis-associated aplastic anemia: a systematic review and meta-analysis.","authors":"Yaonan Hong, Qi Liu, Zhuonan Sun, Peicheng Wang, Xu Wang, Ziying Su, Yuzhu Li, Wenbin Liu, Huijin Hu, Yingying Shen, Baodong Ye, Yuhong Zhou, Shan Liu, Dijiong Wu","doi":"10.1080/16078454.2025.2548990","DOIUrl":"10.1080/16078454.2025.2548990","url":null,"abstract":"<p><p>The present study aimed to compare the efficacy and safety of hematopoietic stem cell transplantation (HSCT) and immunosuppressive therapy (IST) for hepatitis-associated aplastic anemia (HAAA). Studies comparing HSCT with IST in HAAA were retrieved from inception to July 22, 2024, including 12 studies with a total of 544 cases for meta-analysis. Meta-analysis demonstrated significantly superior outcomes in the HSCT group versus IST, which was manifested as lower overall mortality (<i>P</i> < 0.01), higher overall response rate (<i>P</i> < 0.001), and improved five-year overall survival (<i>P</i> < 0.05), yielding a pooled RR of 1.67 (95% CI: 1.15-2.44), 0.75 (95% CI: 0.66-0.86) and 0.88 (95% CI: 0.78-0.99), respectively. However, no benefit was observed in one-year survival (<i>P</i> = 0.08). Further subgroup analysis indicated that the advantage of mortality (<i>P</i> < 0.05, RR = 1.67, 95% CI: 1.10-2.55) and five-year overall survival (<i>P</i> = 0.05, RR = 0.84, 95% CI: 0.71-1.00) only achieved in patients under 20 years old. There was no significant difference in the overall response and one-year overall survival for each age group. Additionally, for the IST selection, a combination of cyclosporine (CSA) and antithymocyte globulin/antilymphocyte globulin (ATG/ALG) was preferred over the CSA-only regimen (effectiveness of 78.57% <i>vs</i>. 50.00%), although the difference was not statistically significant (<i>P</i> = 0.10, RR = 1.56, 95% CI: 0.92-2.66). This study showed that HSCT had a higher effective rate, greater long-term survival and lower mortality compared to IST, especially for patients under 20 years old, who should receive HSCT treatment as possible.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2548990"},"PeriodicalIF":1.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145023155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Mendelian randomization reveals causal effect of Hashimoto's thyroiditis on immune thrombocytopenic purpura.","authors":"Zhen Yao, Mingzhu Xu, Zijin Wang, Shanglong Feng, Fuquan Zhang, Shengli Xue, Chengsen Cai","doi":"10.1080/16078454.2025.2484959","DOIUrl":"10.1080/16078454.2025.2484959","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with immune thrombocytopenic purpura (ITP) usually express thyroid antigen-specific antibodies. The purpose of this study was to explore the causal relationship between Hashimoto's thyroiditis (HT) and ITP.</p><p><strong>Methods: </strong>A two-sample Mendelian randomization (TSMR) analysis was applied to investigate the potential causal relationship between HT and ITP in European population. Five complementary methods including inverse variance weighted (IVW), Mendelian Randomization-Egger (MR-Egger), weighted median, and weighted mode were performed in our study. Risk genes of HT and ITP were selected through Mendelian randomization (MR), and the common risk genes were further analysed by bioinformatics methods to explore the common pathogenesis of the two diseases.</p><p><strong>Results: </strong>The MR analysis revealed a potential causal relationship between HT and risk of ITP [odds ratio (OR) = 1.22; 95% confidence interval (CI) 1.01, 1.49; <i>P</i> = 0.046]. Gene eQTL data were obtained from the IEU database. HT and ITP were respectively treated as outcome variables for MR analysis, and a total of 32 common risk genes were selected, including 12 high-risk genes and 20 low-risk genes. Functional analysis including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genome (KEGG) analysis revealed that risk genes were closely related to antigen processing and presentation, and played a crucial role in the process of various viral and bacterial infections.</p><p><strong>Conclusion: </strong>Our study demonstrated that HT may increase the risk of ITP, and revealed the role of their common risk genes in the development of the two diseases.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"30 1","pages":"2484959"},"PeriodicalIF":2.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143772153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}