Pharmacogenomics & Personalized Medicine最新文献

{"title":"Five <i>VEGFA</i> Polymorphisms and Bleeding During Warfarin Therapy in a Saudi Population: An Exploratory Retrospective Cohort Study.","authors":"Jasmine Holail, Reem Mobarak, Bandar Al-Ghamdi, Said El Shamieh, Hani Tamim, Ziad Ahmad Kanaan, Hana M A Fakhoury, Khaled Alkattan","doi":"10.2147/PGPM.S619780","DOIUrl":"https://doi.org/10.2147/PGPM.S619780","url":null,"abstract":"<p><strong>Background: </strong>Warfarin remains a widely used anticoagulant for long-term thromboprophylaxis, but its narrow therapeutic index and substantial interindividual variability increase the risk of bleeding complications. Functional variants in vascular endothelial growth factor A (<i>VEGFA</i>) may therefore influence vascular integrity during anticoagulant therapy. This study investigated the association between functional <i>VEGFA</i> polymorphisms and warfarin-associated bleeding in a Saudi cohort.</p><p><strong>Methods: </strong>In this retrospective cohort study, 161 Saudi patients receiving stable maintenance warfarin therapy were genotyped for five <i>VEGFA</i> single-nucleotide polymorphisms (SNPs): rs699947, rs833069, rs2010963, rs35410204, and rs866236. Clinical characteristics and bleeding events during warfarin therapy were obtained from electronic medical records. Bleeding status was determined from clinically documented bleeding events during warfarin therapy that required medical evaluation, hospitalization, or blood transfusion. Genotype-phenotype associations were assessed using chi-square analysis and a multivariable logistic regression model.</p><p><strong>Results: </strong>Bleeding occurred in 39% of the patients (63/161). Among the five <i>VEGFA</i> variants studied, rs699947 and rs833069 showed associations with bleeding in bivariate analysis. The rs699947 A/A genotype and rs833069 T/T genotype were less frequent in patients with bleeding than in those without bleeding (6.7% vs 25.5%, p = 0.009; and 16.4% vs 37.5%, p = 0.013, respectively). The rs833069 association did not survive Bonferroni correction for multiple testing and is therefore considered exploratory. Following adjustment for age, sex, body mass index, international normalized ratio, systolic blood pressure, and diastolic blood pressure, rs699947 remained significantly associated with bleeding. For rs833069, the overall genotype association remained statistically significant; however, individual genotype comparisons were not statistically significant. For rs699947, the A/A genotype was associated with lower odds of bleeding compared with the C/C genotype (OR 0.249, 95% CI 0.062-0.999; p = 0.050). No significant associations were observed for rs2010963, rs35410204, or rs866236.</p><p><strong>Conclusion: </strong>In this exploratory retrospective cohort study, <i>VEGFA</i> rs699947 and rs833069 showed possible associations with bleeding during warfarin therapy in Saudi patients. These findings provide preliminary evidence that <i>VEGFA</i> polymorphisms may contribute to bleeding susceptibility during warfarin therapy. Given the modest sample size, these findings should be interpreted cautiously and require validation in larger prospective studies.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"619780"},"PeriodicalIF":2.4,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13580657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148992599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Outcomes of an ApoE Genotype-Guided Lipid-Lowering Strategy in Acute Coronary Syndrome Patients Undergoing Percutaneous Coronary Intervention.","authors":"Siliang Han, Yichao Zhang, Zhe Wang, Fanchang Kong, Junmin Xie","doi":"10.2147/PGPM.S608221","DOIUrl":"10.2147/PGPM.S608221","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the clinical efficacy of a statin therapy strategy guided by Apolipoprotein E (ApoE) gene polymorphism in patients with acute coronary syndrome (ACS) undergoing percutaneous coronary intervention (PCI).</p><p><strong>Patients and methods: </strong>In this retrospective study, 263 ACS patients post-PCI were included. The control group (n=120) received standard atorvastatin therapy. The study group (n=143) received a genotype-guided strategy: patients with ApoE E2/E3 genotypes received atorvastatin monotherapy, while those with the E4 genotype received atorvastatin combined with the PCSK9 inhibitor evolocumab. Clinical efficacy, cardiac function parameters, lipid profiles, and quality of life were compared between groups at 1 and 3 months post-treatment.</p><p><strong>Results: </strong>The total effective rate, defined as the combined proportion of patients rated \"markedly effective\" (complete symptom resolution with a ≥2-grade improvement in New York Heart Association [NYHA] functional class) and \"effective\" (notable symptom improvement with a 1-grade NYHA improvement), was significantly higher in the genotype-guided group than in the control group (92.3% vs 82.5%; P=0.025). At follow-up, the study group showed greater improvements in left ventricular ejection fraction (LVEF) and quality of life scores, and greater reductions in left ventricular dimensions and lipid parameters (including LDL-C) (all P<0.05). Multivariate logistic regression analysis identified the genotype-guided treatment strategy as an independent protective factor for clinical efficacy (P<0.05).</p><p><strong>Conclusion: </strong>An ApoE genotype-guided lipid-lowering escalation strategy, in which E4 carriers-who typically respond suboptimally to statin monotherapy and carry a higher residual risk-received add-on PCSK9-inhibitor (evolocumab) therapy, was associated with improved clinical efficacy, cardiac function, and lipid control in ACS patients after PCI. Because the study group received more intensive lipid-lowering therapy, the observed benefits most plausibly reflect the greater treatment intensity achieved through genotype-directed escalation rather than the act of genotyping alone, and require confirmation in prospective randomized trials with longer follow-up.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"608221"},"PeriodicalIF":2.4,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13564449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148957346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring Genetic Clues in Kikuchi-Fujimoto Disease: A Three-Generation Study.","authors":"Cheryl Weiqi Tan, Gayatiri Raveentheran, Khadijah Rafi'ee, Lena Das, Mark Jean-Aan Koh, Ene-Choo Tan","doi":"10.2147/PGPM.S602876","DOIUrl":"10.2147/PGPM.S602876","url":null,"abstract":"<p><strong>Background: </strong>Kikuchi-Fujimoto disease (KFD) is a rare disorder involving necrotizing lymphadenitis which was first described in Japan. The presentations include lymphadenopathy, fever, and leukopenia of unknown cause.</p><p><strong>Patient: </strong>A 2-year-old Malay girl was evaluated and diagnosed with KFD after presenting with prolonged fever and rash. Her parents are not biologically related, but there is a strong family history of KFD on the maternal side of the family. We investigated the genetic profiles of the patient, her mother and grandmother, who also had a history of similar presentations.</p><p><strong>Methods: </strong>High-resolution HLA typing was performed on the family to examine the potential associations with HLA genotypes. Next-generation sequencing using a Mendelian gene panel was performed on the child's sample, followed by targeted Sanger sequencing of shortlisted variants for the family members.</p><p><strong>Results: </strong>The three affected family members share 14 HLA alleles that are not present in the healthy father, among which five have reported associations with autoimmune inflammatory disorders. Two of them (DQA1*02:01 and DRB1*07:01) were also reported in a pair of affected twins from Australia. In addition to HLA, three rare missense variants in immune-related genes (<i>FGFR3, NRP2</i> and <i>PCM1</i>) were found to correlate with the presence of symptoms within the family. The three affected members also had at least one of the variants in the <i>C1QC</i> gene (a missense and a 17-nucleotide deletion), which is part of the complement pathway that might be related to KFD.</p><p><strong>Conclusion: </strong>Our study uncovers some HLA alleles and immune gene variants that might be important in the development of KFD. Large-scale sequencing of immune genes may be as important as high-resolution HLA typing in identifying genetic factors contributing to KFD pathogenesis. HLA studies provide risk associations to KFD, while association with variants in immune genes may reveal pathways in the development of KFD.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"602876"},"PeriodicalIF":2.4,"publicationDate":"2026-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13560947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole-Exome and Whole-Genome Sequencing of Candidate Pharmacogenomic and Schizophrenia-Related Genes in Sudanese Families with Schizophrenia.","authors":"Safa A Abdalla, Azza Saeed, Lamees Ahmed, Safa Abuswar, Mudathir Salih, Amel Eltigani, Iman H Abdoon, Bashier Osman, Muntaser E Ibrahim","doi":"10.2147/PGPM.S616976","DOIUrl":"10.2147/PGPM.S616976","url":null,"abstract":"<p><strong>Background: </strong>Schizophrenia is considered a neuro-developmental disorder leading to disastrous lifelong disability of the patients and their families. There is a lack of data regarding pharmacogenomics of schizophrenia in Sudan. This study aimed to identify different genes affecting the treatment outcomes in Sudanese patients with schizophrenia.</p><p><strong>Methods: </strong>A case-control study was conducted on seven families having more than one member diagnosed with schizophrenia. This was a small exploratory family-based sequencing study involving 18 affected individuals and 8 controls from seven families. Ethical clearance and informed consent were obtained. Demographic data were collected using a standardized data collection sheet. DNA was extracted from blood samples collected from patients and control groups. Then, whole-exome and genome sequencing were performed. Sixty-six genes associated with schizophrenia, treatment, and treatment resistance were selected from the variant calling file. Variants showing single-nucleotide polymorphisms (SNPs) were identified. These variants were then classified based on their impact on the protein-coding sequence into high- and moderate-impact. Moreover, indel mutations were also identified.</p><p><strong>Results: </strong>Twelve variants of seven genes (COMT, FMO1, LPL, CYP2E1, ABCC1, GRM3, CYP2C9) were identified as genes with impact and potential association with schizophrenia (p-value=0.006632). Forty-three genes had a moderate impact, and they showed a potential association with schizophrenia (p-value=0.0004436). Two variants were indel mutations (CYP2D6, DTNBP1) and showed association with schizophrenia (p-value=0.004741). The p-values were generated from different databases.</p><p><strong>Conclusion: </strong>This exploratory family-based sequencing study identified several potentially relevant pharmacogenomic and schizophrenia-associated variants in Sudanese families, warranting validation in larger and ethnically diverse cohorts.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"616976"},"PeriodicalIF":2.4,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13546632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low Frequency of HLA-B*15:02 in Northwest China: Implications for Carbamazepine-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Screening Strategies.","authors":"Xu Wang, Ping Yang, Feng Rao, Longnan Wang, Fenglin Mou, Huimei Zhang, QiuYan Chen, Zheng Yin, Yanzi Jing, Qiang Liu, Xianrui Xu, Qing Zhang","doi":"10.2147/PGPM.S621616","DOIUrl":"10.2147/PGPM.S621616","url":null,"abstract":"<p><strong>Objective: </strong>HLA-B*15:02 is an important genetic marker for predicting carbamazepine (CBZ)-induced Stevens-Johnson Syndrome (SJS)/Toxic Epidermal Necrolysis (TEN) in Asian populations. This descriptive pooled analysis aimed to characterize HLA-B*15:02 distribution in Northwest China and inform regional screening strategies.</p><p><strong>Methods: </strong>We genotyped HLA-B*15:02 via next-generation sequencing (NGS) in 98 healthy volunteers from Ningxia, and combined these data with 11 previously published studies (total N=3400) from Northwest China. Weighted means, medians, and interquartile ranges (IQR) were calculated by region and ethnicity, with Pearson's chi‑square tests for group comparisons (significance threshold: <i>P</i> < 0.05).</p><p><strong>Results: </strong>The overall HLA-B*15:02 frequency was 1.81% (range: 0.00%-3.30%; IQR: 0.24-1.97%). Regional weighted frequencies were 2.12% (Qinghai), 1.98% (Shaanxi), 1.02% (Ningxia), and 0.38% (Xinjiang); ethnic frequencies ranged from 0% (Kazakh) to 2.28% (Hui). No significant regional (χ² = 7.60, <i>P</i> = 0.055) or ethnic (χ² = 7.35, <i>P</i> = 0.119) differences were observed, nor was there a significant difference between Han and other ethnic groups (<i>P</i> = 0.074).</p><p><strong>Conclusion: </strong>The overall frequency of HLA-B*15:02 in Northwest China is 1.81%, substantially lower than in South China, suggesting a lower expected yield of routine screening in this region.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"621616"},"PeriodicalIF":2.4,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13525768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148857567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cost-Effectiveness of Pharmacogenomics-Guided Treatment in Cardiovascular Disease: An Umbrella Review.","authors":"Slobodan M Janković, Miloš Milosavljević, Ivana Stević, Adna Ašić, Amela Jusić, Yvan Devaux, Andrej Belančić, Muhammed Yunus Bektay, Ana V Pejčić","doi":"10.2147/PGPM.S613319","DOIUrl":"10.2147/PGPM.S613319","url":null,"abstract":"<p><strong>Background: </strong>Pharmacogenomics-guided prescribing uses patient genetic information to individualize drug selection and dosing and has attracted interest as a strategy to improve outcomes and reduce adverse drug events in cardiovascular diseases. Several systematic reviews have examined its cost-effectiveness, but their findings have not been synthesized across drug classes and healthcare settings.</p><p><strong>Objective: </strong>To identify, critically appraise, and synthesize findings from systematic reviews evaluating cost-effectiveness or cost-utility of pharmacogenomics-guided treatment of cardiovascular diseases.</p><p><strong>Methods: </strong>This systematic review of systematic reviews was pre-registered in PROSPERO (CRD420261281565). Five databases were searched from inception, without language restrictions. Eligible studies were systematic reviews that summarized cost-effectiveness evidence on pharmacogenomics-guided cardiovascular drug prescribing. Risk of bias was assessed using ROBIS and methodological quality using AMSTAR 2. Findings were synthesized narratively.</p><p><strong>Results: </strong>Ten systematic reviews (2010-2024) were included, encompassing 149 unique primary cost-effectiveness studies. The corrected covered area across reviews was 9.47% (moderate overlap). Most evidence was derived from economic modelling studies and substantial heterogeneity was observed across drug-gene pairs, comparators, and healthcare settings. CYP2C19-guided clopidogrel therapy was frequently reported as cost-effective or cost-saving, although results were less favourable when universal ticagrelor served as comparator. Evidence for CYP2C9/VKORC1-guided coumarin anticoagulation was more heterogeneous with cost-effectiveness varying across contexts. Limited evidence suggested that SLCO1B1-guided statin therapy may be cost-effective, although data were sparse. No review reported pooled incremental cost-effectiveness ratios or net monetary benefit. Risk of bias was low in 7 reviews; AMSTAR 2 confidence was high in 4 and low in 5.</p><p><strong>Conclusion: </strong>Cost-effectiveness of pharmacogenomics-guided cardiovascular treatment seems to vary by drug-gene pair, comparator, healthcare context, and modelling assumptions. Further real-world studies and standardized economic evaluations are needed to clarify broader clinical adoption.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"613319"},"PeriodicalIF":2.4,"publicationDate":"2026-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13520961/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148842341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between <i>UGT1A9</i> rs13418420 Polymorphism and Propofol Induction Characteristics in Chinese Female Patients Undergoing Brief Gynecological Procedures.","authors":"Xuanwei Huang, Yuxin Tan, Qingling Gu, Liang Zhang, Haofeng Chen, Xiaolin Ruan, Xiangcheng Zhou, Zhongxing Wang, Faling Xue, Jie Jia","doi":"10.2147/PGPM.S611673","DOIUrl":"10.2147/PGPM.S611673","url":null,"abstract":"<p><strong>Purpose: </strong>Propofol, a commonly used intravenous sedative in general anesthesia, exhibits significant inter-individual variability in clinical effects; however, the underlying mechanisms remain uncertain. We aimed to assess the association between the UGT1A9 rs13418420 polymorphism and individual propofol response, as assessed by the time required for the bispectral index (BIS) to decrease to 60.</p><p><strong>Patients and methods: </strong>A total of 75 Chinese female patients undergoing painless abortion, cervical conization, or hysteroscopy under intravenous anesthesia without endotracheal intubation were recruited. Based on bioinformatic analysis and our preliminary sequencing experiments in the Chinese population, <i>UGT1A9</i> rs13418420 was selected for genotyping and validated using quantitative PCR (qPCR). The primary outcome was the time required for BIS to decrease to 60. Secondary outcomes included the time required for BIS to recover to 80, plasma propofol concentrations measured at 1, 5, 10, and 15 minutes after administration, mean arterial pressure, and heart rate.</p><p><strong>Results: </strong>Our results revealed that patients with the TT genotype of <i>UGT1A9</i> rs13418420 exhibited a shorter time for BIS to decrease to 60 (P <0.001, adjusted P <0.001) and higher plasma drug concentrations at 15 minutes compared to those with CC and CT genotypes (P=0.026, P=0.032). Linear mixed-effects model analysis of repeated plasma concentration measurements showed a significant time effect (P < 0.001), a trend toward an overall genotype effect (P = 0.063), and no significant genotype-by-time interaction (P = 0.885). No significant differences were observed in recovery-related outcomes among the three genotype groups.</p><p><strong>Conclusion: </strong>Patients carrying the TT genotype of <i>UGT1A9</i> rs13418420 exhibited a significantly shorter time to BIS 60 and higher plasma propofol concentrations at 15 minutes than those carrying the CC or CT genotypes. No significant differences were observed in recovery-related outcomes among the three genotype groups. These findings suggest that <i>UGT1A9</i> rs13418420 polymorphism may contribute to inter-individual variability in the onset of propofol-induced anesthesia and warrant further investigation in larger studies.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"611673"},"PeriodicalIF":2.4,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13500018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148809465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Implementing Pharmacogenomics in Contemporary Hospital Care: Insights from Multidisciplinary Knowledge Exchange.","authors":"Safeera Y Hussainy, Rachel Conyers, Paul A James, Marliese Alexander, Claire Moore, Susan Fisher, Michelle Gerstman, Aaron K Wong, Stephanie Chau, Amy Clarke, Jennifer Philip, Carl M J Kirkpatrick, Senthil Lingaratnam","doi":"10.2147/PGPM.S606574","DOIUrl":"https://doi.org/10.2147/PGPM.S606574","url":null,"abstract":"<p><strong>Background: </strong>Pharmacogenomics (PGx) is increasingly recognised as a cornerstone of personalised medicine, with established recommendations for many commonly prescribed medicines. Despite this, translation into real-world clinical practice remains inconsistent, reflecting persistent implementation and health-system gaps.</p><p><strong>Objective: </strong>To provide a multidisciplinary perspective on the system-level conditions required to normalise PGx within contemporary hospital care, drawing on structured knowledge exchange and priority-setting across clinical, digital and governance domains.</p><p><strong>Methods: </strong>A multidisciplinary knowledge exchange program convened clinicians, pharmacists, genetic services, informatics teams, researchers and health-service leaders across oncology, transplantation, peri-operative care and palliative care. Knowledge was exchanged through presentations, informing the generation and ranking of shared priorities in groups and individually using the Nominal Group Technique. Aggregate scores were calculated, and priorities further refined. Presentation insights were synthesised using a narrative, interpretive approach, to identify cross-cutting translational themes.</p><p><strong>Results: </strong>Eleven shared priorities were identified across four broad critical levers for sustainable integration: (1) computable, reusable PGx data embedded within electronic medical records (EMR); (2) coordinated and equitable testing and prescribing pathways; (3) workforce capability and stewardship; and (4) governance. Equity, access and data sovereignty were highlighted as foundational to responsible scale-up, particularly for First Nations peoples and under-represented communities.</p><p><strong>Conclusion: </strong>Insights from this knowledge-exchange program highlight the feasibility and clinical relevance of PGx, and identify workforce capability, EMR integration, and system-level governance as critical implementation levers of adoption. Coordinated national investment and policy alignment will be central to realising the full value of PGx.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"606574"},"PeriodicalIF":2.4,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13477175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148763200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anaplastic Lymphoma Kinase Positive Aggressive Adult Lung Primary Inflammatory Myofibroblastoma Tumor: A Case and Literature Review.","authors":"Panfeng Xu, Shan Lu","doi":"10.2147/PGPM.S591506","DOIUrl":"10.2147/PGPM.S591506","url":null,"abstract":"<p><p>Inflammatory myofibroblastoma tumor (IMT) is a rare mesenchymal neoplasm that develops in the lungs, retroperitoneum, or abdominopelvic region, and is most common in children and adolescents; although IMT usually has a good prognosis, some cases still show local invasion, recurrence, and even distant metastasis. Effective standard treatment for locally advanced or metastatic IMT is limited, but therapy with anaplastic lymphoma kinase (ALK) tyrosine kinase inhibitors (TKIs) improves the prognosis in some patients with ALK protein expression or ALK gene fusions. This case reports a 39-year-old woman with recurrent fever, cough, sputum, chest tightness, and shortness of breath for more than 2 weeks. Contrast-enhanced computed tomography (CT) revealed a mass in the upper lobe of the right lung with ill-defined borders involving the mediastinum, pleura, and right hilum. Multiple pleural nodules and right-sided pleural effusion were also observed. IMT was diagnosed by lung biopsy, and ALK positive was confirmed by immunohistochemistry. The patient's lung CT was reviewed after 3 weeks of treatment with brigatinib, and the right lung lesion and multiple metastases in the right pleura, hilar region, and mediastinum were significantly smaller than before. Additionally, the right pleural effusion was reduced, and the clinical symptoms were significantly improved compared to prior evaluations. Unlike most IMT cases, this patient's tumor showed highly malignant biology, with pleural metastasis at the initial diagnosis, as well as rapid progression and a favorable response to ALK TKI. Brigatinib represents a potential therapeutic option for the treatment of IMT.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"591506"},"PeriodicalIF":2.4,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13428548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148655063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Analysis of SLCO1B1 Gene Polymorphisms in Dyslipidemic and Normolipidemic Patients with Type 2 Diabetes Mellitus Residing at High Altitude.","authors":"Yong-Hong Ma, Zong-Hong Ji, Chun-Na Han, Sheng-Hua Ma, Jin-Lan Ma, Rui-Xia Zhang, Zhuo-Ma Ni-Yang, Zhi-Xi Zhao, Qi-Fu Zhang","doi":"10.2147/PGPM.S593658","DOIUrl":"10.2147/PGPM.S593658","url":null,"abstract":"<p><strong>Objective: </strong>To examine the association between SLCO1B1 gene polymorphisms and blood lipid metabolism in Tibetan patients with type 2 diabetes mellitus (T2DM) in Yushu, Qinghai, China.</p><p><strong>Methods: </strong>A cross-sectional study enrolled 156 Tibetan T2DM patients (78 normolipidemic and 78 dyslipidemic) admitted to Yushu People's Hospital between September 2022 and December 2023. SLCO1B1 521T>C and 388A>G polymorphisms were genotyped using PCR-RFLP.</p><p><strong>Results: </strong>The 521TC genotype frequency was significantly higher in the dyslipidemia group (30.8% vs. 14.1%, p < 0.05), with elevated triglycerides, total cholesterol, and low-density lipoprotein cholesterol (p < 0.01). Multivariate regression confirmed positive associations. The 388AG and 388GG genotypes were associated with elevated triglycerides (p < 0.05).</p><p><strong>Conclusion: </strong>SLCO1B1 521T>C and 388A>G polymorphisms are significantly associated with dyslipidemia in this high-altitude Tibetan T2DM population, with 521T>C showing stronger predictive potential.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"19 ","pages":"593658"},"PeriodicalIF":2.4,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13426349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148655034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}