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Association of miR-21 rs1292037 polymorphism with congenital heart disease susceptibility in Chinese children. miR-21 rs1292037多态性与中国儿童先天性心脏病易感性的关系
Personalized medicine Pub Date : 2025-10-11 DOI: 10.1080/17410541.2025.2565140
Hongjuan Tang, Wenjuan Zhang, Dan Xu, Jianxin Xu
{"title":"Association of miR-21 rs1292037 polymorphism with congenital heart disease susceptibility in Chinese children.","authors":"Hongjuan Tang, Wenjuan Zhang, Dan Xu, Jianxin Xu","doi":"10.1080/17410541.2025.2565140","DOIUrl":"https://doi.org/10.1080/17410541.2025.2565140","url":null,"abstract":"<p><strong>Background: </strong>Congenital heart disease (CHD) is a condition characterized by structural or functional abnormalities of the cardiovascular system present at birth. This study investigated the correlation between microRNA-21 (miR-21) rs1292037 and rs13137 polymorphisms and children with CHD.</p><p><strong>Materials and methods: </strong>The study included 305 CHD children and 303 healthy children. The TaqMan real-time fluorescent quantitative PCR (qPCR) method was used to genotype miR-21 SNPs. The RT-qPCR method was adopted to quantify the miR-21 expression. Multivariate logistic regression analysis was performed to investigate the CHD risk factors.</p><p><strong>Results: </strong>The rs1292037 TC (OR = 1.527, 95% CI = 1.045-2.231, <i>p</i> = 0.028), CC (OR = 1.747, 95% CI = 1.114-2.742, <i>p</i> = 0.015) genotypes, and C allele (OR = 1.338, 95% CI = 1.068-1.677, <i>p</i> = 0.011) might be strongly associated with an elevated risk of CHD. MiR-21 was upregulated in CHD patients (<i>p</i> < 0.05). Individuals with the rs1292037 TC and CC genotypes exhibited higher miR-21 expression (<i>p</i> < 0.05). In contrast, no significant differences in miR-21 expression were observed among genotypes at rs13137 (<i>p</i> > 0.05). MiR-21, rs1292037, left ventricular end-systolic diameter, and ejection fraction were significantly linked to disease risk (<i>p</i> < 0.05), whereas rs13137 did not show a significant association with disease risk.</p><p><strong>Conclusion: </strong>The miR-21 rs1292037 polymorphism was significantly linked to CHD genetic predisposition, while the rs13137 polymorphism had no strong association.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tailoring pediatric vancomycin doses: achieving therapeutic levels and minimizing toxicity in oncology patients. 调整儿科万古霉素剂量:达到治疗水平和最小化肿瘤患者的毒性。
Personalized medicine Pub Date : 2025-10-08 DOI: 10.1080/17410541.2025.2565143
Nadeen Hossam, Dalia Makhlouf, Ahmed Elzeiny, Akram Elzeiny, Sherif Kamal, Omneya Hassanien, Lobna Shalaby, Mohamed Nagy
{"title":"Tailoring pediatric vancomycin doses: achieving therapeutic levels and minimizing toxicity in oncology patients.","authors":"Nadeen Hossam, Dalia Makhlouf, Ahmed Elzeiny, Akram Elzeiny, Sherif Kamal, Omneya Hassanien, Lobna Shalaby, Mohamed Nagy","doi":"10.1080/17410541.2025.2565143","DOIUrl":"https://doi.org/10.1080/17410541.2025.2565143","url":null,"abstract":"<p><strong>Background: </strong>Vancomycin is a widely used nephrotoxic drug in pediatric oncology. Our aim was to assess the initial vancomycin dosing protocols required for achieving the target therapeutic concentrations of vancomycin between 10 and 20 mcg/ml.</p><p><strong>Methods: </strong>We analyzed 4134 vancomycin trough levels from 1678 pediatric oncology patients treated at CCHE 57357 (2017-2023).</p><p><strong>Results: </strong>Higher initial Vancomycin doses (80 and 100 mg/kg/day) yielded better target levels (45.5%, 51.4%) compared to 60 mg/kg/day (38.1%). Younger patients (<10 years) showed higher sub-therapeutic levels than older ones (53.4% vs. 24.8%, <i>p</i> < 0.0001). Co-administration of nephrotoxic medications increased vancomycin toxicity risk (13.3% vs. 8.9%, <i>p</i> < 0.0001). Weight-based dosing of vancomycin resulted in higher therapeutic levels compared to capping doses at 500 mg.</p><p><strong>Conclusion: </strong>Higher initial vancomycin doses (80-100 mg/kg/day) may be necessary to achieve therapeutic levels in pediatric oncology. Kg dosing beats capping for reaching targets without raising toxicity.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of pharmacogenomic information in drug labeling: a case study from Jordan. 药物标签中药物基因组学信息的评价:来自约旦的案例研究。
Personalized medicine Pub Date : 2025-10-01 Epub Date: 2025-07-15 DOI: 10.1080/17410541.2025.2531734
Yazun Jarrar, Nancy Hakooz, Mays Abu Ajamieh, Karim Shawagfeh, Rahaf Zaidan, Omar Al Shareef
{"title":"Evaluation of pharmacogenomic information in drug labeling: a case study from Jordan.","authors":"Yazun Jarrar, Nancy Hakooz, Mays Abu Ajamieh, Karim Shawagfeh, Rahaf Zaidan, Omar Al Shareef","doi":"10.1080/17410541.2025.2531734","DOIUrl":"10.1080/17410541.2025.2531734","url":null,"abstract":"<p><strong>Background: </strong>Pharmacogenomics (PGx) examines how genetic variations influence individual responses to medications, enabling more precise drug and dose selection. Drug labeling communicates PGx information to healthcare providers. However, in many countries, including Jordan, PGx integration into clinical practice remains limited.</p><p><strong>Objective: </strong>This study aimed to evaluate the availability of PGx labeling in medications approved by the Jordan Food and Drug Administration (JFDA). It also compared PGx labeling in Jordan with that in drug labels from the United States and Hungary.</p><p><strong>Methods: </strong>A manual review of drug leaflets was conducted using the JFDA online database between July and September 2024. Drugs were categorized based on the presence or absence of PGx information. Data were then compared with the U.S. FDA's PGx Biomarker Table and the Hungarian National Institute of Pharmacy's SmPCs.</p><p><strong>Results: </strong>Among 75 reviewed JFDA-approved drugs, only 15 (20%) included complete PGx information. Neurology (50%), psychiatry (26.7%), and oncology (25%) had the highest representation, while cardiology (10%) and urology (0%) were underrepresented. Compared to the USA and Hungary, PGx labeling in Jordan was markedly limited.</p><p><strong>Conclusion: </strong>The findings show a significant gap in PGx labeling in Jordan, emphasizing the need for regulatory updates to support personalized medicine.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"305-311"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optimizing breast cancer therapy: chemoressitance and machine learning for precision prediction. 优化乳腺癌治疗:精确预测的化疗和机器学习。
Personalized medicine Pub Date : 2025-10-01 Epub Date: 2025-07-16 DOI: 10.1080/17410541.2025.2532362
Martina Lichtenfels, Matheus G S Dalmolin, Julia Caroline Marcolin, Heloisa Resende, Alessandra Borba Anton de Souza, Bianca Silva Marques, Vivian Fontana, Francine Hickmann Nyland, Mário Casales Schorr, Isabela Miranda, Luiza Kobe, Camila Alves da Silva, Marcelo Ac Fernandes, Caroline Brunetto de Farias, Antônio Luiz Frasson, José Luiz Pedrini
{"title":"Optimizing breast cancer therapy: chemoressitance and machine learning for precision prediction.","authors":"Martina Lichtenfels, Matheus G S Dalmolin, Julia Caroline Marcolin, Heloisa Resende, Alessandra Borba Anton de Souza, Bianca Silva Marques, Vivian Fontana, Francine Hickmann Nyland, Mário Casales Schorr, Isabela Miranda, Luiza Kobe, Camila Alves da Silva, Marcelo Ac Fernandes, Caroline Brunetto de Farias, Antônio Luiz Frasson, José Luiz Pedrini","doi":"10.1080/17410541.2025.2532362","DOIUrl":"10.1080/17410541.2025.2532362","url":null,"abstract":"<p><strong>Background: </strong>Validate a novel in vitro resistance platform for breast cancer (BC) by assessing resistance profiles of treatment-naïve and residual tumors after neoadjuvant chemotherapy (NACT) and applying a machine learning algorithm to predict NACT response using clinical biomarkers.</p><p><strong>Methods: </strong>Tumor cells from primary BC and residual disease (RD) were cultured on the chemoresistance platform with various chemotherapies. Resistance was categorized as low ( < 40%), medium (40-60%), or high ( > 60%) after 72 h based on cell viability. Clinicopathological data from BC samples were analyzed using the XGBoost algorithm and SHAP interpretation to identify NACT-resistant patients.</p><p><strong>Results: </strong>Patients undergoing upfront surgery (<i>n</i> = 70) exhibited significantly favorable prognosis compared to RD cases (<i>n</i> = 27), which had higher drug resistance and worse outcomes. AI analysis of 1,012 patients achieved 82% accuracy in predicting pathological response and RD, with age, estrogen receptor status, tumor grade and size, axillary status, and HER2 status identified as key predictors. The algorithm predicted NACT resistance with 81.8% accuracy in 11 patient samples.</p><p><strong>Conclusion: </strong>The chemoresistance platform identified resistance patterns highlighting its utility in precision medicine. Additionally, the XGBoost algorithm accurately predicted NACT response, supporting the integration of AI with functional precision medicine for personalized BC treatment.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"295-304"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144644466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mutational signatures in appendiceal adenocarcinomas: potential for future personalization in hyperthermic intraperitoneal chemotherapy? 阑尾腺癌的突变特征:未来腹膜内高温化疗的个体化潜力?
Personalized medicine Pub Date : 2025-10-01 Epub Date: 2025-07-11 DOI: 10.1080/17410541.2025.2532360
Mason Vierra, Ryan Morgan, Oliver Eng
{"title":"Mutational signatures in appendiceal adenocarcinomas: potential for future personalization in hyperthermic intraperitoneal chemotherapy?","authors":"Mason Vierra, Ryan Morgan, Oliver Eng","doi":"10.1080/17410541.2025.2532360","DOIUrl":"10.1080/17410541.2025.2532360","url":null,"abstract":"<p><p>Cytoreductive surgery with hyperthermic intraperitoneal chemotherapy (CRS/HIPEC) has become increasingly utilized in the treatment of appendiceal adenocarcinoma (AA) with peritoneal metastases. There are multiple intraperitoneal chemotherapeutic agents and protocols used at different centers, however there is little data available to guide clinicians on the optimal treatment strategy for individual patients. While it is often treated with paradigms extrapolated from colorectal cancer, AA has been shown to have a distinct mutational profile. Commonly mutated genes in AA such as KRAS and GNAS have been targeted by recently described systemic therapies for various tumors with positive results, suggesting that there may be a role for a patient-centered approach to HIPEC as well. Data specific to AA remains limited, however ongoing research into novel strategies such as next-generation sequencing of tumor samples and <i>in vitro</i> testing of patient-derived organoids for a variety of gastrointestinal cancers with peritoneal metastases has shown promise in personalizingHIPEC regimens.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"337-344"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144621638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Awareness, and interest in personalized medicine: a cross-sectional survey study of health professionals. 个性化医疗的意识和兴趣:卫生专业人员的横断面调查研究。
Personalized medicine Pub Date : 2025-10-01 Epub Date: 2025-07-30 DOI: 10.1080/17410541.2025.2538427
Ali Mostafaei, Aysan Rahmani, Kavous Shahsavarinia, Sepideh Harzand-Jadidi, Nooshin Milanchian, Fatemeh Rahmati, Hanieh Salehi-Pourmehr, Sakineh Hajebrahimi
{"title":"Awareness, and interest in personalized medicine: a cross-sectional survey study of health professionals.","authors":"Ali Mostafaei, Aysan Rahmani, Kavous Shahsavarinia, Sepideh Harzand-Jadidi, Nooshin Milanchian, Fatemeh Rahmati, Hanieh Salehi-Pourmehr, Sakineh Hajebrahimi","doi":"10.1080/17410541.2025.2538427","DOIUrl":"10.1080/17410541.2025.2538427","url":null,"abstract":"<p><strong>Background: </strong>Personalized medicine (PM) is advancing disease prevention and treatment, but regulatory and clinical concerns persist, requiring evaluation of healthcare professionals' (HPs) knowledge and attitudes.</p><p><strong>Methods: </strong>His study assessed PM awareness among HPs at Tabriz University of Medical Sciences, Iran. Participants from diverse clinical departments completed a survey covering PM definitions, benefits, ethical concerns, genetic testing knowledge, attitudes, and barriers. A literature review guided question development.</p><p><strong>Results: </strong>Among 141 HPs (55.3% male, 44.7% female), only 27.7% reported sufficient PM knowledge, though 82.3% acknowledged genetic health influences. Those with adequate knowledge more often endorsed PM tools (92.3% vs. 68.6%, <i>p</i> = 0.01) but expressed greater concern about healthcare disparities (82.1% vs. 67.6%, <i>p</i> = 0.03). Key barriers included cost (17%) and ethical risks, with 72% fearing PM would widen economic gaps and 23.4% anticipating insurance discrimination. Females and married HPs were more concerned about discrimination (<i>p</i> = 0.039 and <i>p</i> = 0.038, respectively). Despite concerns, 80% of physicians supported genome-guided prescribing.</p><p><strong>Conclusion: </strong>While HPs recognize PM's potential, limited awareness and ethical concerns hinder adoption. Addressing knowledge gaps and equity issues through education is crucial for PM integration in Iran.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"313-323"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A scoping review of the cost-effectiveness of precision treatment in chronic lymphocytic leukemia. 慢性淋巴细胞白血病精确治疗成本-效果的范围综述。
Personalized medicine Pub Date : 2025-10-01 Epub Date: 2025-07-23 DOI: 10.1080/17410541.2025.2535276
Jesman Punian, Morgan Ehman, Deirdre Weymann, Dean A Regier
{"title":"A scoping review of the cost-effectiveness of precision treatment in chronic lymphocytic leukemia.","authors":"Jesman Punian, Morgan Ehman, Deirdre Weymann, Dean A Regier","doi":"10.1080/17410541.2025.2535276","DOIUrl":"10.1080/17410541.2025.2535276","url":null,"abstract":"<p><p>Chronic lymphocytic leukemia (CLL) is a common, incurable leukemia. Precision treatment for CLL uses genetic testing to align therapeutic selection with patient characteristics. Insurers are uneven in their reimbursement of precision CLL treatment, partly due to uncertain evidence of cost-effectiveness. This review surveys the current cost-effectiveness evidence for precision CLL treatment and identifies areas for future research. We conducted a scoping review of economic evaluations of precision CLL treatments indexed in PubMed, Embase, and Web of Science and published by October 2024. Eight articles were retrieved. Studies examined heterogeneous patient populations, treatment regimens, and stratification strategies. Four studies (50%) focused on subgroups with del(17p) and/or TP53 mutations only. Three studies (38%) analyzed the costs and outcomes of both treatment and genetic testing, while 62% did not include the cost or outcomes of genetic testing. All studies obtained clinical model parameters from published trials. Five studies (63%) reported that precision CLL treatment was likely cost-effective at willingness to pay thresholds ranging from $26,489/QALY to $130,477/QALY. Future research should focus on generating real-world data, broadening the scope of analysis to include societal perspectives, and exploring distributional impacts to more effectively address the heterogeneity of precision CLL treatments when determining their cost-effectiveness.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"325-335"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of platelet ADP receptor variant rs1371097 with inadequate platelet response to aspirin in Indian patients. 印度患者血小板ADP受体变异rs1371097与血小板对阿司匹林反应不足的关系
Personalized medicine Pub Date : 2025-10-01 Epub Date: 2025-07-11 DOI: 10.1080/17410541.2025.2530381
Pandarisamy Sundaravadivel, Rita Christopher, Sadanandavalli Retnaswami Chandra, Subasree Ramakrishnan
{"title":"Association of platelet ADP receptor variant rs1371097 with inadequate platelet response to aspirin in Indian patients.","authors":"Pandarisamy Sundaravadivel, Rita Christopher, Sadanandavalli Retnaswami Chandra, Subasree Ramakrishnan","doi":"10.1080/17410541.2025.2530381","DOIUrl":"10.1080/17410541.2025.2530381","url":null,"abstract":"<p><strong>Aim: </strong>On-aspirin platelet reactivity, wherein patients show sub-optimal or no response to antiplatelet therapy, occurs in 5-60% of subjects. The genetic etiology of such reactivity in patients with vascular diseases, especially ischemic stroke in the Indian population, is unknown. This study aimed to examine the genetic variations in the pathways of platelet aggregation and aspirin metabolism that could predict aspirin response.</p><p><strong>Methods: </strong>This is a prospective cohort study, which included 293 ischemic stroke patients on 150 mg aspirin for over 7 days. Platelet aggregation was assessed using light transmission aggregometry with 10 µM ADP and 0.5 mM arachidonic acid as agonist. After excluding patients with serum salicylic acid levels < 30 µg/mL, 230 individuals were analyzed. Candidate gene variants in <i>COX1, COX2, GpIIb/IIIa, P2RY1, PEAR1, ITGB3</i>, and <i>UGT1A6</i>, were genotyped using PCR-RFLP or allelic discrimination assays.</p><p><strong>Results: </strong>The T allele of <i>P2RY1</i> (rs1371097 C > T) was significantly associated with inadequate platelet response with an odds ratio of 1.71 (95% CI: 1.122-2.61; <i>p</i> = 0.0131). Carriers of this allele had a 3.46-fold increased risk of inadequate response after adjustment for age and gender.</p><p><strong>Conclusions: </strong>The <i>P2RY1</i> (rs1371097 C > T) variant may be a potential genetic marker for inadequate response to aspirin in Indian ischemic stroke patients.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"285-294"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144621635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A rare likely pathogenic HLA-DRB1 variant with compromised immunity in severe COVID-19 patient and in-hospital mortality. 一种罕见的可能致病性HLA-DRB1变异,在严重的COVID-19患者和住院死亡率中具有免疫力低下。
Personalized medicine Pub Date : 2025-10-01 Epub Date: 2025-07-24 DOI: 10.1080/17410541.2025.2538424
Rashid Mir, Badr A Alsayed, Mohammad Fahad Ullah
{"title":"A rare likely pathogenic HLA-DRB1 variant with compromised immunity in severe COVID-19 patient and in-hospital mortality.","authors":"Rashid Mir, Badr A Alsayed, Mohammad Fahad Ullah","doi":"10.1080/17410541.2025.2538424","DOIUrl":"10.1080/17410541.2025.2538424","url":null,"abstract":"<p><p>The severity of COVID-19 disease can vary greatly, influenced by genetic factors and comorbid conditions that may increase mortality. This study has examined potential genetic influences on the disease for a young adult aged 36 years with T2DM-CAD multi-morbidity with severe COVID-19 disease and in-hospital mortality using whole-exome sequencing. The patient exhibited a constellation of severe symptoms and abnormality in several biochemical markers associated with COVID-19 disease and comorbid conditions. A total of 756 variants were discovered in the patient, including several rare and novel variants associated with immune pathways. A set of 10 unique candidate variants in 10 distinct genes were identified with nine variants located within genes associated with the COVID-19 panel (HLA-DRB1, IL23R, PRKDC, RNF31, SLC37A4, TAP2, TCIRG1, TCN2, and TPP2), while one variant was found in a gene (PAX6) from Diabetes panel. Enrichment analysis showed that the top three enriched GO biological processes were a response to stimulus (<i>n</i> = 23, <i>p</i> = 6.8E-3), immune system process (<i>n</i> = 22, <i>p</i> = 3.6E-12), and regulation of immune system process (<i>n</i> = 19, <i>p</i> = 1.57E-11). The Maximal Clique Centrality algorithm identified HLA-DRB1 as a prominent hub gene and potential loss-of-function mutation in HLA-DRB1, suggests a compromised antigen presentation mechanism within this patient.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"275-284"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ready to test your DNA?: Public acceptance of genetic testing in the precision medicine era among Chinese residents. 准备好测试你的DNA了吗?:精准医疗时代中国居民对基因检测的接受程度。
Personalized medicine Pub Date : 2025-09-24 DOI: 10.1080/17410541.2025.2564624
Cong Pang, Qun Wang, Zhongxin Su, Zhuo Chen, Guoyu Wang
{"title":"Ready to test your DNA?: Public acceptance of genetic testing in the precision medicine era among Chinese residents.","authors":"Cong Pang, Qun Wang, Zhongxin Su, Zhuo Chen, Guoyu Wang","doi":"10.1080/17410541.2025.2564624","DOIUrl":"https://doi.org/10.1080/17410541.2025.2564624","url":null,"abstract":"<p><strong>Aim: </strong>This study aimed to explore the Chinese public's experiences with, perceptions of, attitudes toward, and willingness to use genetic testing (GT) in the precision medicine era.</p><p><strong>Methods: </strong>A total of 4,208 individuals from 33 provinces in China were recruited to complete a self-administered questionnaire in December 2018.</p><p><strong>Results: </strong>More than half of the respondents believed that GT does more good than harm, while only 5.8% believed that it does more harm than good. Nearly 60% of the respondents expressed willingness to use GT. Higher awareness of GT was correlated with more positive attitudes toward it and a greater willingness to use it. However, the general public had an uneven exposure and susceptibility to misinformation. More educated respondents demonstrated a better understanding of GT but remained vulnerable to the influence of misinformation. Additionally, younger generations tended to be more critical of GT but were more willing to use it than earlier generations.</p><p><strong>Conclusions: </strong>The study reveals a high level of acceptance of GT among the Chinese public, while also suggesting that educational and regulatory measures are needed to improve public understanding of GT and address their particular concerns regarding genetic testing and precision medicine.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-12"},"PeriodicalIF":0.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145133165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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