Pharmacogenomics & Personalized Medicine最新文献

{"title":"Genetic Landscape of VIP Pharmacogenomic Variants in the Kinh Vietnamese Population.","authors":"Hang Tong, Vo Thu Nga Phan, Tu Nguyen, Ly Le","doi":"10.2147/PGPM.S520685","DOIUrl":"https://doi.org/10.2147/PGPM.S520685","url":null,"abstract":"<p><strong>Background: </strong>Genetic polymorphisms in the genes encoding enzymes and proteins in drug metabolism, transport, and response can significantly impact enzymatic activity and overall pharmacokinetics and pharmacodynamics, leading to inter-individual and inter-population differences in drug efficacy and safety. The prevalence of pharmacogenomic variants often differs among populations due to unique evolutionary and demographic factors. By studying the genetic variation within 100 pharmacogenes in the Kinh Vietnamese population, a relatively underexplored group in pharmacogenomic research, we aim to provide insights into the population-specific pharmacogenomic landscape.</p><p><strong>Materials and methods: </strong>100 healthy people were recruited for peripheral blood donation after getting consents. Genomic DNA from participants was sequenced at coding regions of 100 pharmacogenes. Sequence reads were qualified, and variants were called using Genome analysis toolkit (GATK) followed with variant processing. Very important variants were characterized. Genetic distance using pairwise fixation index and allele frequencies comparison between the Kinh population and 25 populations of the 1000 Genome Project were analyzed.</p><p><strong>Results: </strong>689 variants were called with 652 SNPs and 37 indels including 371 missense-, 266 synonymous-, 30 frameshift-, 14 stop-gain-, 2 stop-lost-, 3 in-frame insertion-, 2 in-frame deletion- and 1 protein variant. There are 59 novel variants (8.6%) present in 39/100 genes in which 13 variants are labeled with damaging phenotype. 28 VIP variants were obtained from these regions. Allele frequencies of variants are mostly similar with East Asians, but different from Africans. Remarkably, variants rs1801280 and rs1208 (NAT2), rs2231142 (ABCG2), rs2306283 (SCLO1B1) and rs4148323 (UGT1A1) distribute significantly between Kinh people and all other populations.</p><p><strong>Conclusion: </strong>The prevalence of pharmacogenomic variants of 100 pharmacogenes was obtained for Kinh Vietnamese people, in which 28 variants were characterized as very important variants. Kinh Vietnamese shows close genetic distance with East Asians but far from Africans. The variants with distinguished distribution in Kinh people were also highlighted.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"251-261"},"PeriodicalIF":1.8,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12535187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330664","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 Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort.","authors":"Hongwei Li, Yongjun He, Zhengyao Cai, Qianqiu Che, Yong Wu, Mingshuang Zhou, Zeng He, Liming Zhao","doi":"10.2147/PGPM.S525556","DOIUrl":"10.2147/PGPM.S525556","url":null,"abstract":"<p><strong>Objective: </strong>Atrial septal defect (ASD) is a common congenital heart defect with incompletely understood genetic underpinnings, particularly in specific ethnic groups. This study aimed to identify novel genetic variants related to ASD within the Tibetan population using whole exome sequencing (WES).</p><p><strong>Methods: </strong>Genomic DNA was extracted from blood samples of 17 Tibetan ASD patients. WES was performed using the Illumina HiSeq platform. After rigorous filtering, detection, and annotation of single nucleotide variations (SNVs) and insertion-deletions (InDels), potentially pathogenic variants were prioritized. Functional impact predictions were conducted using SIFT, PolyPhen V2, MutationTaster, and CADD databases to identify variants likely contributing to ASD etiology.</p><p><strong>Results: </strong>We identified nine high-confidence candidate variants in Tibetan ASD patients, including rs145116532 (<i>ALKAL1</i>, c.287G >A: p. R96Q), rs374798430 (<i>AVL9</i>, c.1267G >A: p.D423N), rs138933092 (<i>C5</i>, c.4432C >T: p.R1478W), rs141638421 (<i>CRYAB</i>, c.470G>A: p.R157H), rs147287319 (<i>DOCK8</i>, c.989G>A: c.1193G>A: p.R330Q, p.R398Q), rs141616597 (<i>NTN3</i>, c.1243C>T: p.R415C), rs117506395 (<i>PIWIL1</i>, c.2207C>T: p.T736M), rs142533677 (<i>PLEKHG4</i>, c.2246G>A: p.R749Q), and rs118203532 (<i>TSC1</i>, c.1460C>G: p.S487C). Function annotation further suggested potential associations of <i>C5, CRYAB, PIWIL1</i>, and <i>TSC1</i> with congenital heart diseases.</p><p><strong>Conclusion: </strong>This first WES-based study of Tibetan ASD patients reveals population-specific genetic determinants. The nine novel candidate variants, particularly in <i>C5, CRYAB, PIWIL1</i>, and <i>TSC1</i>, provide preliminary insights into ASD etiology in high-altitude populations and highlight potential targets for future diagnostic biomarker development.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"239-250"},"PeriodicalIF":1.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145071382","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":"Ulcerative Colitis: Advances in Pathogenesis, Biomarkers, and Therapeutic Strategies.","authors":"Siyuan Bu, Xiaozhen Cheng, Meng Chen, Yongduo Yu","doi":"10.2147/PGPM.S536459","DOIUrl":"10.2147/PGPM.S536459","url":null,"abstract":"<p><p>Ulcerative colitis represents an inflammatory bowel disease with multiple contributing factors, marked by persistent inflammation of the colonic mucosa, which can lead to a reduced life expectancy and an elevated likelihood of requiring colectomy as well as developing colorectal cancer. Despite impacting roughly 5 million individuals worldwide, the intricate mechanisms underlying ulcerative colitis are still inadequately defined, hindering the development of effective treatments. Extra-intestinal complications, including enteropathic arthritis, are also addressed in the context of disease burden and management. This review explores the multifaceted pathogenesis of ulcerative colitis, emphasizing critical factors such as abnormalities in the epithelial barrier, irregular immune responses, the release of inflammatory mediators, and alterations in gut microbiota composition. We also underscore recent advancements in diagnostic biomarkers that improve the accuracy of disease detection and monitoring. Conventional medicinal strategies are reviewed alongside the emergence of biological therapies, notably those that target tumor necrosis factor (TNF), interleukins, and integrins, which have significantly altered management approaches. Established therapies (eg, 5-aminosalicylic acid, corticosteroids) and emerging agents (eg, JAK inhibitors, S1P modulators) are clearly delineated. Combination strategies-such as dual biologic regimens or JAK inhibitors combined with anti-integrin agents-are also discussed in dedicated subsections. We discuss novel therapies that utilize small molecule targeting, particularly those that inhibit Janus kinase (JAK) and modulate sphingosine-1-phosphate (S1P) receptors, presenting promising avenues for treatment. Additionally, fecal microbiota transplantation (FMT) is evaluated as a therapeutic option, as it shows promise in restoring microbial balance. Collectively, these advances underscore the pivotal roles of immune dysregulation, biologic therapies, and microbiota modulation in reshaping precision management of ulcerative colitis. This synthesis of current knowledge underscores the necessity for continued research to refine therapeutic strategies and improve patient outcomes in ulcerative colitis.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"219-238"},"PeriodicalIF":1.8,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145042260","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 ABCB1 Gene Polymorphism with Hyperglycemia and MACE in Patients Undergoing Clopidogrel Treatment After PCI.","authors":"Bo Zhou, Chuanshen Shi, Qike Xu, Yujia Wei, ShuFang Zhang, Xia Wang, Xiangyang An","doi":"10.2147/PGPM.S529276","DOIUrl":"10.2147/PGPM.S529276","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the effect of <i>ABCB1</i> C3435T gene polymorphism with hyperglycemia on the risk of major adverse cardiovascular events (MACE) in patients treated with clopidogrel after percutaneous coronary intervention (PCI).</p><p><strong>Patients and methods: </strong>A total of 117 patients were studied, of which 52 developed MACE. We used fluorescence in situ hybridization to detect the genotype of the <i>CYP2C19</i> and <i>ABCB1</i> C3435T loci. Baseline characteristics, fasting blood glucose, and clinical outcomes were collected. Logistic regression was used to analyze factors influencing MACE in PCI patients treated with clopidogrel.</p><p><strong>Results: </strong>There were significant differences between normal and MACE groups in gender, age, history of diabetes mellitus, history of alcohol consumption, fasting blood glucose, <i>ABCB1</i> (CC) with normoglycemia, and <i>ABCB1</i> (CT/TT) combined with hyperglycemia (<i>P</i> < 0.05). <i>ABCB1</i> C3435T genotype (<i>P</i>= 0.024, OR = 5.584, 95% CI 1.258-24.780), age (<i>P</i>= 0.014, OR = 1.073, 95% CI 1.014-1.135), History of hypertension (<i>P</i>= 0.020, OR = 3.144, 95% CI 1.200-8.238) and History of diabetes mellitus (<i>P</i>= 0.030, OR = 3.731, 95% CI 1.135-12.270) were independent MACE risk factors. In patients <75 years, history of hypertension (<i>P</i>= 0.021, OR = 3.151, 95% CI 1.189-8.350) was a risk factor, while the <i>ABCB1</i> (CC) with normoglycaemia (<i>P</i>= 0.023, OR = 0.147, 95% CI 0.028-0.767) was a protective factor.</p><p><strong>Conclusion: </strong>The <i>ABCB1</i> C3435T genotype is an independent risk factor for MACE after PCI with clopidogrel therapy. <i>ABCB1</i> CC combined normoglycemia may protect against MACE in patients <75 years.</p><p><strong>Trial registration: </strong>Registration number: ChiCTR2400082012, Reg Date: 2024-03-19.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"209-217"},"PeriodicalIF":1.8,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12396218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144979560","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":"The Prevalence of Potential Drug-Drug-Gene Interactions: A Descriptive Study Using Swiss Claims Data.","authors":"Nina L Wittwer, Christoph R Meier, Carola A Huber, Julie D Moser, Henriette E Meyer Zu Schwabedissen, Samuel S Allemann, Cornelia Schneider","doi":"10.2147/PGPM.S527556","DOIUrl":"10.2147/PGPM.S527556","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to determine the prevalence of interactions between PGx drugs metabolized by CYP2C9, CYP2C19, and CYP2D6 and drugs that act as inhibitors or inducers of those enzymes in the Swiss population.</p><p><strong>Patients and methods: </strong>We defined concomitant use of PGx drugs and inhibitors/inducers as instances where a claim of a PGx drug and a claim of an inducer or inhibitor concerning the same enzyme were made within a specified temporal window, either ± 5 days or ± 30 days. We assessed concomitant drug use between 2017 and 2021, using claims data from a Swiss insurance company (Helsana).</p><p><strong>Results: </strong>Out of 894,748 individuals continuously insured, between 17.4% (± 5-days window) and 24.8% (± 30-days window) were exposed to potentially interacting drug pairs, with 1.5% to 2.2% being exposed to potentially strong interacting drug pairs. Individuals exposed to potentially interacting drugs were more frequently female, older and took a greater number of drugs than the general population. The majority of potential interactions were associated with CYP2D6 or CYP2C19.</p><p><strong>Conclusion: </strong>In light of the high prevalence of the simultaneous use of PGx drugs with inhibitor and inducer drugs, it is imperative to consider non-genetic factors, such as drug-induced phenoconversions, when interpreting PGx test results.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"197-208"},"PeriodicalIF":1.8,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144979719","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":"Dual EGFR L858R and KRAS G12A Mutations in Lung Adenocarcinoma: A Rare Case Report and Literature Review.","authors":"Gang Wei, Jun Tang, Huaiwen Wang, Dongdong Zhang","doi":"10.2147/PGPM.S531038","DOIUrl":"10.2147/PGPM.S531038","url":null,"abstract":"<p><strong>Background: </strong>KRAS mutations are typically mutually exclusive in non-small cell lung cancer (NSCLC), with the G12C mutation being the most common subtype. The coexistence of KRAS and EGFR mutations is exceedingly rare and is typically emerges as a secondary event following acquired resistance to EGFR-targeted therapies. We presented a case of a newly diagnosed NSCLC patient harboring concurrent EGFR L858R and KRAS G12A mutations.</p><p><strong>Case presentation: </strong>A 64-year-old male with a 30-pack-year smoking history presented with a 3-month history of progressive shortness of breath and chest tightness. Contrast-enhanced chest CT revealed a 5 cm spiculated mass in the right upper lobe, abutting the mediastinum, along with bronchial obstruction, right middle lobe atelectasis, and pleural effusion. A CT-guided transthoracic needle biopsy confirmed lung adenocarcinoma. Next-generation sequencing (NGS) identified a c.2573T>G (p.L858R) mutation in exon 21 of the EGFR gene and a c.35G>C (p.G12A) mutation in exon 2 of the KRAS gene. The patient started first-line therapy with osimertinib combined with pemetrexed/nedaplatin, resulting in a transient partial response, significant resolution of pleural effusion, and partial regression of the primary tumor. However, disease progression occurred within 6 months, marked by the appearance of a new cerebellar metastasis, confirmed by MRI. The patient continued osimertinib maintenance therapy and underwent stereotactic radiotherapy for the brain lesion. Despite initial stabilization, pulmonary progression was observed 11 months after the start of treatment. Due to declining performance status and personal preferences, the patient declined further treatment and was lost to follow-up.</p><p><strong>Conclusion: </strong>We report a rare case of treatment-naïve lung adenocarcinoma harboring concurrent KRAS G12A and EGFR L858R mutations. The patient achieved only transient disease control following treatment with a third-generation EGFR TKI combined with chemoradiotherapy. Further research to explore optimal therapeutic strategies for such complex molecular profiles is needed.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"189-196"},"PeriodicalIF":1.8,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12380001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144979660","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":"Construction of a Nomogram Model for Predicting Prognosis in Breast Cancer Patients Based on the Expression of THRSP and ACACA Proteins Tissues.","authors":"Benkai Wei, Fan Li, Huanhuan Yan, Jun Shen","doi":"10.2147/PGPM.S516843","DOIUrl":"10.2147/PGPM.S516843","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to analyze the expression of thyroid hormone-responsive spot 14 (THRSP) and acetyl-CoA carboxylase alpha (ACACA) proteins in breast cancer tumor tissues and their relationship with clinicopathology and prognosis of breast cancer patients. In addition, a nomogram model to predict the prognosis of breast cancer patients was constructed in this study.</p><p><strong>Methods: </strong>Retrospective analysis of 202 cases of breast cancer patients who underwent surgical treatment in our hospital from October 2019 to March 2021, and collection of patients' cancer tissues and non-Tumor tissue specimens. Immunohistochemistry was used to detect THRSP and ACACA protein expression. Multivariate COX regression was used to analyze the risk factors affecting the prognosis of breast cancer patients. The \"rms\" package in R software was used to build a survival nomogram model and evaluate the effectiveness of the model.</p><p><strong>Results: </strong>The expression of THRSP and ACACA proteins in tumor tissues of breast cancer patients was higher than that in non-tumor tissues (<i>p</i> < 0.05). The expression of THRSP and ACACA proteins in breast cancer patients with lymph node metastasis was higher than that in patients without lymph node metastasis (<i>p</i> < 0.05). Cox regression analysis showed that TNM stage III, lymph node metastasis, high expression of Ki-67, high expression of THRSP, and high expression of ACACA were all risk factors for the prognosis of breast cancer patients (<i>p</i> < 0.05). The C-index of the nomogram model was 0.704 (95% CI: 0.596~0.892). The predicted 1-, 2- and 3-year survival AUCs of this nomogram model were 0.802, 0.769 and 0.770, respectively. The calibration curve showed that the model fit the ideal curve well. Decision curve analysis showed the high clinical utility of the model.</p><p><strong>Conclusion: </strong>The nomogram model constructed based on THRSP and ACACA proteins may provide a reference value for the prognostic evaluation of breast cancer patients.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"179-188"},"PeriodicalIF":1.8,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12326444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144796244","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":"Advances in the Clinical Use of Clopidogrel: A Review of Individualized Treatment Strategies and Monitoring Optimization Based on Genetic Polymorphisms.","authors":"Nina Dou, Haiyan Ma, Ping Zhang, Ruiyang Lu, Jiarong Hang, Jingyi Sun","doi":"10.2147/PGPM.S519342","DOIUrl":"10.2147/PGPM.S519342","url":null,"abstract":"<p><p>This paper systematically reviews recent advances in clopidogrel clinical applications to optimize therapeutic precision and medication safety. Using a literature review methodology, we elucidate clopidogrel's pharmacokinetic properties and pharmacodynamic mechanisms, while evaluating its clinical efficacy and adverse reactions in disease management. Recent studies have emphasized the key role of genetic polymorphisms in regulating the efficacy and safety of clopidogrel. Polymorphisms in the <i>CYP2C19</i> gene have a significant effect on the metabolism of clopidogrel, with loss-of-function (LOF) alleles (<i>*2, *3</i>) reducing the production of active metabolites, leading to elevated platelet reactivity and increasing the risk of major adverse cardiovascular events (MACE), particularly in the Asian populations, where the prevalence of LoF alleles is as high as 29-35%. In contrast, the gain-of-function allele <i>CYP2C19*17</i> results in a reduced risk of cardiovascular events but increases the risk of bleeding. This article summarizes the latest research progress and monitoring methods of clopidogrel, and suggests that clinics should combine genotyping and platelet function testing with monitoring of blood levels to optimize treatment and provide data reference for clinical administration of clopidogrel.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"163-177"},"PeriodicalIF":1.8,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12256699/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144638771","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":"Molecular Genetic Analysis of a <i>DMD</i> Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing.","authors":"Qianwen Chen, Wenjuan Zhang, Lingfeng Zha","doi":"10.2147/PGPM.S514145","DOIUrl":"10.2147/PGPM.S514145","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disease that is characterized by progressive proximal muscle weakness and pseudohypertrophy. Currently, genetic diagnosis of DMD relies largely on multiplex ligation-dependent probe analysis (MLPA) and Sanger sequencing to identify pathogenic mutations. This study aimed to confirm the genetic etiology of a boy presenting with clinical manifestations that are highly indicative of DMD. A 14-year-old boy with heart failure and extreme muscle weakness along with his family members was recruited for this study. DNA from each participant was isolated from peripheral blood samples. We used MLPA to detect the deletion or duplication mutations of the <i>DMD</i> gene and Sanger sequencing to verify the missing region of the exon in the proband. Furthermore, the functional role of the mutation was assessed using bioinformatics. We found that the proband carried a small deletion in the <i>DMD</i> gene (c.6808_6811delTTAA). The deletion of those four nucleotides resulted in a frameshift mutation and a premature nonsense codon, which resulted in a truncated dystrophin that lost its most critical function and underwent post-transcriptional degradation. Our study demonstrated that MLPA, in combination with Sanger sequencing, is a reliable and practical approach for the genetic diagnosis of DMD, which is a significant step towards developing personalized therapy.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 ","pages":"153-162"},"PeriodicalIF":1.8,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12182250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144477976","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":"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":"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}