Pharmacogenomics & Personalized Medicine最新文献

{"title":"Associations Between <i>FTO</i> Polymorphisms and Neuroblastoma Risk in Chinese Children.","authors":"Peiqi Liu, Yue Li, Yong Li, Li Li, Jiwen Cheng, Suhong Li, Jiao Zhang, Haixia Zhou, Yunlong Huo, Zhonghua Yang, Jing He, Ran Zhang","doi":"10.2147/PGPM.S488314","DOIUrl":"https://doi.org/10.2147/PGPM.S488314","url":null,"abstract":"<p><strong>Background: </strong>Neuroblastoma (NB) is a malignancy of neural crest cells that primarily affects children. Single nucleotide polymorphisms (SNPs) in the fat mass and obesity-associated (<i>FTO</i>) gene, a well-conserved gene, have been implicated in tumorigenesis. However, there is currently insufficient evidence to establish the relationship between <i>FTO</i> gene SNPs and susceptibility to NB.</p><p><strong>Methods: </strong>A TaqMan assay was conducted to examine the potential associations between <i>FTO</i> gene SNPs and the risk of NB in a cohort of 898 patients and 1734 controls from eight medical centers in China. Additionally, stratification analysis was performed to evaluate the relationship between the selected <i>FTO</i> SNPs and the susceptibility to NB among various subgroups.</p><p><strong>Results: </strong>No significant association was found between the selected <i>FTO</i> polymorphisms and the risk of NB in either the single locus analysis or the combined analysis.</p><p><strong>Conclusion: </strong>However, our study reveals that individuals with retroperitoneal NB and those with stage III+IV NB are more prone to exhibit <i>FTO</i> SNPs compared to other patients. Moreover, participants with the <i>FTO</i> rs8047395 GG genotype displayed a higher likelihood of developing stage III+IV NB in comparison to other participants.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"143-151"},"PeriodicalIF":1.8,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200918","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":"Quercetin Inhibits Gastric Cancer Progression via FAM198B/MAPK Pathway Modulation.","authors":"Hongyang Deng, Qi Xiao, Xiaodong Xu, Lingyi Zhang, Youcheng Zhang","doi":"10.2147/PGPM.S511324","DOIUrl":"10.2147/PGPM.S511324","url":null,"abstract":"<p><strong>Background: </strong>The family with the sequence similarity 198 member B (FAM198B) has been found to contribute to the progression of gastric cancer (GC). However, the role and molecular mechanism of FAM198B in GC remains poorly understood. This work found a link between FAM198B and quercetin, and the regulatory effect of FAM198B on the MAPK pathway of GC.</p><p><strong>Methods: </strong>FAM198B expression was identified through multiple public data sets and verified in clinical tissue samples. The associations between FAM198B and the prognosis of patients with GC were analyzed via the Kaplan‒Meier plotter and Cox regression analysis. Gene set enrichment analysis, coexpressed genes, and RNA sequencing were used to explore the related functions and signaling pathways of FAM198B in GC. In vitro assays assessed the effects of FAM198B knockdown on GC cells. FAM198B was found as a quercetin target by the HERB database and in vitro assays.</p><p><strong>Results: </strong>FAM198B was highly expressed in tissues from GC patients (<i>p</i><0.001) and was positively associated with poor prognosis (<i>p</i><0.001) and immune cell infiltration in GC patients. FAM198B knockdown inhibited the proliferation, migration, invasion, and epithelial-mesenchymal transition (EMT) of GC cells (all <i>p</i><0.05). In addition, FAM198B knockdown decreased the phosphorylation of p-Erk1/2 and p-p38 in GC cells (all <i>p</i><0.01). Quercetin inhibited FAM198B expression and the phosphorylation of p-Erk1/2 and p-p38 in GC cells (all <i>p</i><0.05).</p><p><strong>Conclusion: </strong>Quercetin inhibits the proliferation, migration, invasion, and EMT of GC cells by inhibiting the FAM198B/MAPK signaling pathway. These discoveries lay the groundwork for developing the treatment of GC by quercetin and targeting FAM198B. In the future, more preclinical and clinical studies are needed to confirm the efficacy and safety of quercetin and target FAM198B in GC.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"115-141"},"PeriodicalIF":1.8,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12087595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144103199","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":"Prevalence of <i>CYP2C19</i> Variants in Patients with Cardiovascular Disease from the Yunnan-Guizhou Plateau in Southwestern China.","authors":"Xiu-Ping Li, Jun-Ling Wang, San-Xi Lei, Bo-Yu Chen, Xiang Ma, Fei He, Chao-Fu Yue, Hong-Xia Liu, Jian-Peng Hu, Qian Xiong, Ting Ji, Zheng-Fu Zhang, Yong Sun, Hong-Wei Li","doi":"10.2147/PGPM.S509794","DOIUrl":"https://doi.org/10.2147/PGPM.S509794","url":null,"abstract":"<p><strong>Background and purpose: </strong>The CYP2C19 enzyme is essential for activation of the antiplatelet drug clopidogrel. Genetic variations in CYP2C19 are known to influence individual drug responses. Here, differences in <i>CYP2C19</i> alleles, genotypes, and phenotypes in patients with cardiovascular disease from the Yunnan-Guizhou Plateau were systematically surveyed to provide a reference for appropriate treatment approaches.</p><p><strong>Methods: </strong>The <i>CYP2C19*2, *3</i>, and <i>*17</i> variants were determined by RT-qPCR in 1934 patients with cardiovascular disease from 10 different areas of the Yunnan-Guizhou Plateau. Clinical data were analyzed using χ² tests.</p><p><strong>Results: </strong>The proportions of the <i>CYP2C19*1, *2, *3</i>, and <i>*17</i> alleles in the study cohort were 64.94, 29.81, 4.42, and 0.83%, respectively, while the frequencies of nine observed genotypes (<i>*1/*17, *1/*1, *2/*17, *3/*17, *1/*2, *1/*3, *2/*2, *2/*3, *3/*3</i>) were 1.03, 42.09, 0.57, 0.05, 38.73, 5.95, 8.89, 2.53, and 0.16%, respectively. Four metabolic phenotypes were found in the population, namely, rapid (1.03%), normal (42.09%), intermediate (45.29%), and poor (11.58%) metabolizers. Regional differences in allele and phenotype distribution were observed.</p><p><strong>Conclusion: </strong>These results represent the first comprehensive profile of <i>CYP2C19</i> variants in patients with cardiovascular disease from the Yunnan-Guizhou Plateau, offering a valuable genetic reference for the selection of optimal treatment strategies.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"105-113"},"PeriodicalIF":1.8,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12054638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043230","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":"Clinicopathological and Molecular Features of Primary Inflammatory Myofibroblastic Tumor in Nasal Cavity and Paranasal Sinuses.","authors":"Yihua Zhao, Donglin Ma, Hongfei Wan, Yingshi Piao","doi":"10.2147/PGPM.S508156","DOIUrl":"https://doi.org/10.2147/PGPM.S508156","url":null,"abstract":"<p><strong>Background: </strong>Inflammatory myofibroblastic tumor (IMT) in the nasal cavity and sinuses is rare and has special clinical and pathological characteristics with poor prognosis. This study aimed to investigate the clinicopathological and molecular features of primary IMT in the nasal cavity and paranasal sinuses.</p><p><strong>Methods: </strong>The clinical features, histopathological findings, immunohistochemical findings and results of molecular genetic examination were retrospectively analyzed in 25 patients who were diagnosed with IMT in the nasal cavity and paranasal sinuses.</p><p><strong>Results: </strong>Tumor tissues were mainly composed of obese spindle-shaped myofibroblasts, fibroblasts, and chronic inflammatory cells. The inflammatory cells included plasma cells, lymphocytes, eosinophils, foam histiocytes and multinuclear giant cells. Immunohistochemical staining showed the tumor was positive to anaplastic lymphoma kinase (ALK) in two patients. <i>ALK</i> fusion mutation was detected by PCR in only 1 patient.</p><p><strong>Conclusion: </strong>Nasal and paranasal sinus IMTs are rare, exhibit histopathological diversity with low specificity, and require careful differentiation from inflammatory and autoimmune disorders. These tumors demonstrate a worse prognosis compared to IMTs in other anatomic locations, along with a significantly lower rate of ALK gene rearrangement. Identifying molecular target alterations can enhance precision diagnosis and targeted therapeutic strategies.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"95-104"},"PeriodicalIF":1.8,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12047225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051177","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":"Novel <i>SLC16A2</i> Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening.","authors":"Peng Lin, Huituan Liu, Jiwu Lou, Guizhen Lyu, Yanwei Li, Peiqing He, Youqing Fu, Ronghua Zhang, Yuqiong Zhang, Tizhen Yan","doi":"10.2147/PGPM.S492647","DOIUrl":"https://doi.org/10.2147/PGPM.S492647","url":null,"abstract":"<p><strong>Background: </strong>Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder caused by mutations in the solute carrier family 16-member 2 (<i>SLC16A2</i>) gene. This syndrome leads to significant psychomotor disabilities, thyroid dysfunction, and abnormal brain development. This case report describes the genetic cause of AHDS in a male proband and to expanding the mutation spectrum of the <i>SLC16A2</i> gene.</p><p><strong>Methods: </strong>A blood specimen was collected from a one-year-old child with delayed development and abnormal thyroid function and this was followed by whole-exome sequencing (WES) was performed on the proband to identify potential genetic mutations. Sanger sequencing was subsequently used to confirm the findings and determine the inheritance pattern of the mutation within the family.</p><p><strong>Results: </strong>The proband, who presented with developmental delay, thyroid dysfunction, and abnormal brain development, was found to have a novel hemizygous frameshift mutation, c.513_538del (p.Ile172Cysfs*60), in the <i>SLC16A2</i> gene (NM_006517.5). This mutation was inherited from his asymptomatic mother, confirming the X-linked inheritance pattern. The mutation is classified as likely pathogenic, contributing to the clinical presentation observed in the proband.</p><p><strong>Conclusion: </strong>This study identified a novel frameshift mutation in the <i>SLC16A2</i> gene associated with AHDS, thereby expanding the known mutation spectrum of this gene. Given the significant impact of AHDS on neural development and hormone secretion, it is recommended that this gene be included in carrier screening panels in China, particularly for families with a history of related neurodevelopmental disorders.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"85-94"},"PeriodicalIF":1.8,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12034286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998442","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":"Pharmacogenomics of Chemotherapies for Childhood Cancers in Africa: A Scoping Review.","authors":"Deogratias M Katabalo, Stanley Mwita, Antony Cuthbert Liwa, Benson R Kidenya, Kristin Schroeder","doi":"10.2147/PGPM.S502355","DOIUrl":"10.2147/PGPM.S502355","url":null,"abstract":"<p><strong>Background: </strong>Pharmacogenomics holds significant promise in improving the efficacy and safety of chemotherapy for childhood cancers. However, the field remains underexplored in Africa, where high genetic diversity and substantial disease burdens, including cancers, create unique challenges. This review investigates the current state of pharmacogenomics research in childhood cancer chemotherapies across Africa, focusing on genetic variations influencing chemotherapy efficacy and adverse drug reactions. It also highlights critical gaps, such as limited infrastructure and insufficient healthcare worker knowledge, and emphasizes the importance of capacity-building initiatives in the region.</p><p><strong>Methods: </strong>A scoping review was conducted encompassing studies published up to September 2024 that examined pharmacogenomic variations associated with chemotherapies in childhood cancer patients across Africa. The review included laboratory genetic analyses and surveys assessing healthcare workers' knowledge, attitudes, and perceptions regarding pharmacogenomics, particularly in the context of pediatric oncology.</p><p><strong>Results: </strong>A total of 12 genes were identified across eight studies, including <i>TPMT, CYP3A5, MDR1, MAPT, NUDT15, ITPA, IMPDH1, SLC29A1, SLC28A2, SLC28A3, ABCC4, and MTHFR</i>. The most studied genes were <i>TPMT</i> and <i>CYP3A5</i>, which are involved in the metabolism of 6-mercaptopurine (6-MP) and vincristine, respectively. These studies spanned five African countries, including Kenya, Egypt, Zimbabwe, Nigeria, Tunisia, and Libya, and focused primarily on childhood cancers, particularly acute lymphoblastic leukemia. Chemotherapies frequently studied were 6-MP (reported in five studies), vincristine, cyclophosphamide, and methotrexate. Knowledge of pharmacogenomics among healthcare workers in Africa remains low, though a positive attitude towards its clinical applications was observed.</p><p><strong>Conclusion: </strong>Pharmacogenomic variants, such as TPMT*3A, 3C, and CYP3A53, *6, significantly impact drug metabolism in African children with cancer. However, research remains regionally limited, and gaps in infrastructure and healthcare worker training persist. Expanding research efforts and improving pharmacogenomics capacity through pharmacist training and capacity-building initiatives are essential to advancing personalized medicine in Africa, ultimately improving treatment outcomes for pediatric cancer patients.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"55-69"},"PeriodicalIF":1.8,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450862","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 of MiRNA Polymorphisms Involved in the PI3K/ATK/GSK3β Pathway with T2DM in a Chinese Population.","authors":"Xing Zhou, Man Yang, Ying Yang, Fan Xu, Feiying Wang, Ming Jiao, Wenyu Tao, Yiping Li","doi":"10.2147/PGPM.S487873","DOIUrl":"10.2147/PGPM.S487873","url":null,"abstract":"<p><strong>Background: </strong>Single nucleotide polymorphisms (SNPs) in miRNA genes can influence the expression of miRNAs that modulate the PI3K/AKT/GSK3β pathway and play crucial roles in type 2 diabetes mellitus (T2DM) susceptibility. The purpose of this study was to investigate the association of SNPs in miRNA genes targeting the PI3K/AKT/GSK3β pathway with T2DM.</p><p><strong>Methods: </strong>This case-control study included 1,416 subjects with T2DM and 1,694 non-diabetics. Eleven SNPs in miRNA genes (rs895819 in miR-27a, rs11888095 in miR-128a, rs2292832 in miR-149, rs6502892 in miR-22, rs13283671 in miR-31, rs1076063 and rs1076064 in miR-378a, rs10061133 in miR-449b, rs3746444 in miR-499a and rs678956 and rs476364 in miR-326) involved in PI3K/AKT/GSK3β pathway were genotyped by TaqMan Genotyping Assay, and the associations of these SNPs with T2DM were analyzed using online SHesis and SNPstats.</p><p><strong>Results: </strong>The results showed that miR-378a rs1076064 G allele could be a protective factor against T2DM (p<0.001, OR=0.828; 95% CI:0.749-0.916), whereas the miR-31 rs13283671 C allele could increase the risk of developing T2DM (p=0.003, OR=1.193; 95% CI:1.060-1.342). In addition, the miR-378a rs1076063A-rs1076064G haplotype could be a protective against T2DM (p<0.001, OR=0.731; 95% CI:0.649-0.824). According to inheritance mode analysis, compared with the AA-AG genotype, the GG genotype of rs1076064 showed a protective effect in T2DM in the recessive mode (p<0.01, OR=0.71; 95% CI: 0.59-0.84). For rs13283671, compared with the TT genotype, the CT-CC genotype showed a risk effect in T2DM in the dominant inheritance model (p<0.01, OR=1.29; 95% CI: 1.12-1.49). Genotype-Tissue Expression (GTEx) Portal database analysis showed that miR-31 rs13283671 CT and CC genotypes had lower AKT expression than TT genotypes.</p><p><strong>Conclusion: </strong>In conclusion, rs13283671 in miR-31 and rs1076064 in miR-378a involved in the PI3K/AKT/GSK3β pathway were associated with T2DM susceptibility in a Chinese population.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"71-84"},"PeriodicalIF":1.8,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11835773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460929","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":"A Novel Pathogenic Splicing Mutation of <i>OFD1</i> is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa.","authors":"Liang Chen, Mei-Fang Zhao, Hui-Wen Deng, Min Liao, Liang-Liang Fan, Qi-Bao Zhong, Jun Wang, Ke Li, Zheng-Hui Wu, Jian-Yin Yin","doi":"10.2147/PGPM.S501623","DOIUrl":"10.2147/PGPM.S501623","url":null,"abstract":"<p><p>Joubert syndrome (JS) is an infrequent congenital neurodevelopmental ciliopathy, typically identified in children around the average age of 33 months. This disorder is characterized by developmental delay, cognitive impairment, and infantile hypotonia that may evolve into ataxia. Mutations in <i>OFD1</i> results in Joubert syndrome with a variety of phenotypes. Here, we identified a child who presented with Joubert syndrome exhibiting orofaciodigital spectrum anomalies, polydactyly, and retinitis pigmentosa. Whole exome sequencing and Sanger sequencing revealed a splicing mutation (NM_003611.2, c.2387+1G>A) in the <i>OFD1</i> gene of the patient and his mother. mRNA sequencing further confirmed this mutation. However, since the patient is homozygous and the mother is heterozygous, only the patient has the phenotype and the mother is normal. This mutation can lead to the loss of sixth coiled-coil domains of OFD1 protein, which further disrupt the ciliary signaling pathway and Hedgehog signaling pathway. This study presents a new case of JS and expands the mutant spectrum of <i>OFD1</i>, but also enhances our understanding of the mechanism by which <i>OFD1</i> is associated with ciliosis.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"47-53"},"PeriodicalIF":1.8,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11804221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384032","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":"Naoxintong Is Involved in the Coagulation Regulation of Warfarin Through the MAPK Pathway.","authors":"Xiao Luo, Ling Chen, Jingsong Xu, Juxiang Li","doi":"10.2147/PGPM.S489820","DOIUrl":"10.2147/PGPM.S489820","url":null,"abstract":"<p><strong>Objective: </strong>To explore the effect of Naoxintong (NXT) on warfarin anticoagulation therapy and its potential mechanism.</p><p><strong>Methods: </strong>TCSMP, SwissTargetprediction, SuperPred, SEA, and Batmanic-TCM were used to search for active ingredients and targets of NXT and warfarin; the DisGENT database was used to find disease targets of coagulation disorders. Cytoscape software was applied to construct the \"drug-target\"network; the protein interaction network (PPI) was used to study the protein-protein interaction. GO and KEGG were used for functional analysis. The effect of NXT on warfarin anticoagulation was then tested in rats by analyzing coagulation factors in blood before and after drug administration. The expression of MAPK in the liver tissue was determined by Western blot.</p><p><strong>Results: </strong>The top five components of NXT affecting warfarin anticoagulation degree value were MOL000098, MOL000422, MOL000006, MOL000358, and MOL000449. TP53, AKT1, SRC, TNF, HSP90AA1, STAT3, JUN, IL6, EGFR, and ESR1 were the core targets of NXT, while MAPK9, MAP3K5, MAPK8, and MAPK1 in the MAPK family were important targets of NXT in the coagulation process. In vivo testing indicated that NXT may be able to participate in the regulation of the warfarin coagulation process through multiple targets and multiple pathways, which may be related to MAPK.</p><p><strong>Conclusion: </strong>Our data suggests that NXT is involved in the coagulation regulation of warfarin through the MAPK pathway.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"35-46"},"PeriodicalIF":1.8,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11792639/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191453","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":"Pharmacogenomics Tools for Precision Public Health and Lessons for Low- and Middle-Income Countries: A Scoping Review.","authors":"Angélica Borbón, Juan Carlos Briceño, Augusto Valderrama-Aguirre","doi":"10.2147/PGPM.S490135","DOIUrl":"10.2147/PGPM.S490135","url":null,"abstract":"<p><p>Pharmacogenomics is the integration of genomics and pharmacology to optimize drug response and reduce side effects. In terms of personalized or individualized medicine, PGx is defined as the identification and analysis of specific genetic variants associated with particular drug treatments for each patient. Under a precision public health (PPH) approach, population-level data are analyzed to generate public health strategies. The objective of this study was to conduct a scoping review of technological tools, examining their evolution, the predominance of high-income countries in their development, and the gaps and needs for genomic data and advances in low- and middle-income countries (LMICs). This review was conducted in accordance with the ScPRISMA guidelines. A search was conducted in PubMed, Web of Science and Embase until January 2024. A total of 40 documents were selected, which revealed the continuous evolution and progressive development of pharmacogenomic tools. The technological tools developed come from high-income countries, particularly the United States, Canada, China, and several European nations, where international collaboration has been essential to maintain and expand these tools, which have evolved to keep pace with the rapid generation of genomic data. This trend shows a scarce development of technological tools for public health precision in LMICs, which evidences the need to increase investment in genomic research infrastructure in this aspect and in the development of capacities to guarantee global accessibility and boost PPH for all populations.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"19-34"},"PeriodicalIF":1.8,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789506/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143124197","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}