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Individualized psychiatric care: integration of therapeutic drug monitoring, pharmacogenomics, and biomarkers. 精神科个体化护理：治疗药物监测、药物基因组学和生物标志物的整合。
Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-20 DOI: 10.1080/17410541.2024.2442897
Sara Salatin, Ali Reza Shafiee-Kandjani, Samin Hamidi, Akbar Amirfiroozi, Parinaz Kalejahi
{"title":"Individualized psychiatric care: integration of therapeutic drug monitoring, pharmacogenomics, and biomarkers.","authors":"Sara Salatin, Ali Reza Shafiee-Kandjani, Samin Hamidi, Akbar Amirfiroozi, Parinaz Kalejahi","doi":"10.1080/17410541.2024.2442897","DOIUrl":"10.1080/17410541.2024.2442897","url":null,"abstract":"<p><p>Personalized treatment optimization considers individual clinical, genetic, and environmental factors influencing drug efficacy and tolerability. As evidence accumulates, these approaches may become increasingly integrated into standard psychiatric care, potentially transforming the treatment landscape for mental health disorders. While personalized treatment optimization shows promise in enhancing therapeutic outcomes and minimizing adverse effects, further research is needed to establish its clinical utility and cost-effectiveness across various psychiatric disorders. This review examines the potential utility of personalized treatment optimization in psychiatry, addressing the challenge of suboptimal effectiveness and variable patient responses to psychiatric medications. It explores how therapeutic drug monitoring, pharmacogenomics, and biomarker testing can be used to individualize and optimize pharmacotherapy for mental disorders such as depression, bipolar disorder, and schizophrenia.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"29-44"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873760","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
Genetic and non-genetic factors influencing the therapeutic response of valproic acid in pediatric epileptic patients. 影响小儿癫痫患者丙戊酸治疗反应的遗传和非遗传因素。
Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-22 DOI: 10.1080/17410541.2024.2441655
Changsong Wu, Jianghuan Zheng, Yanling Pan, Ruyu Tao, Zhijun Zhong, Chaozhi Qian, Heng Liang, Haijun Wu
{"title":"Genetic and non-genetic factors influencing the therapeutic response of valproic acid in pediatric epileptic patients.","authors":"Changsong Wu, Jianghuan Zheng, Yanling Pan, Ruyu Tao, Zhijun Zhong, Chaozhi Qian, Heng Liang, Haijun Wu","doi":"10.1080/17410541.2024.2441655","DOIUrl":"10.1080/17410541.2024.2441655","url":null,"abstract":"<p><strong>Aims: </strong>Considerable inter-individual variability in the efficacy of valproic acid (VPA) has been reported, with approximately 20-45% of patients failing to achieve satisfactory seizure control after VPA monotherapy. The aim of this study was to investigate the influence of non-genetic and genetic factors on 12-month VPA-response in a cohort of 194 pediatric patients.</p><p><strong>Materials & methods: </strong>Trough concentrations were determined, and a panel of 48 variants located in pharmacokinetic and pharmacodynamic gene were genotyped.</p><p><strong>Results: </strong>Aetiology was highlighted as a significant factor for the response to VPA. Specifically, patients with idiopathic epilepsy demonstrated poorer 12-month outcomes (<i>p</i> < 0.001). Trough VPA concentrations did not significantly affect outcomes. Marginal association was found between VPA efficacy and the following genetic variants: <i>GABRA1</i> rs10068980 (<i>p</i> = 0.02), <i>SLC16A1</i> rs7169 (<i>p</i> = 0.02), <i>ABCC2</i> rs1885301 (<i>p</i> = 0.092), <i>ACADM</i> rs1251079 (<i>p</i> = 0.061) and <i>GABRA1</i> rs6883877 (<i>p</i> = 0.085), as indicated by Fisher's exact test. A significant cumulative effect of two genetic factors (<i>GABRA1</i> rs10068980 and <i>SLC16A1</i> rs7169) was observed after a multiple logistic analysis, with ORs of 2.828 (1.213, 6.594) and 4.066 (1.148,14.398), respectively.</p><p><strong>Conclusion: </strong>Our study indicated that <i>GABRA1</i> rs10068980 and <i>SLC16A1</i> rs7169 might serve as potential biomarkers for predicting the 12-month VPA treatment outcomes in pediatric patients with epilepsy.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"11-19"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142879447","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
The effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis.
Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-31 DOI: 10.1080/17410541.2024.2446006
Mahnaz Rezaei, Marzieh Ghasemi, Mohsen Saravani, Hossein Shahraki-Ghadimi, Rahele Ghasemian Moghadam, Saeedeh Salimi
{"title":"The effect of genetic polymorphisms of AKT1 on PE susceptibility: a case-control study and insilico analysis.","authors":"Mahnaz Rezaei, Marzieh Ghasemi, Mohsen Saravani, Hossein Shahraki-Ghadimi, Rahele Ghasemian Moghadam, Saeedeh Salimi","doi":"10.1080/17410541.2024.2446006","DOIUrl":"https://doi.org/10.1080/17410541.2024.2446006","url":null,"abstract":"<p><strong>Background: </strong>Preeclampsia (PE) is a gestational disease associated with developing hypertension and proteinuria.</p><p><strong>Aim: </strong>This study investigated the effects of <i>AKT1</i> polymorphisms, a key enzyme in cellular signal transmission that regulates various cellular processes associated with PE.</p><p><strong>Methods: </strong>The PCR-RFLP method was employed to genotype <i>AKT1</i> rs2494732, rs1130233, and rs1130214 polymorphisms. In silico analysis was conducted using SpliceAid2, RNAsnp, and STRING tools.</p><p><strong>Results: </strong>The <i>AKT1</i> rs1130233 variant was associated with an increased risk of PE in log-additive and allelic models. A significant relationship was also observed between the rs1130214 variant and PE risk in several genetic models. Results from the SpliceAid2 server indicated that the rs2494732 A to G substitution creates a new binding site for the SRP-40 protein. Several key protein binding sites were lost for rs1130214 (C-to-A) and rs1130233 (C-to-T) mutations. However, RNAsnp analysis did not show significant changes in secondary structure.</p><p><strong>Conclusion: </strong>In conclusion, the <i>AKT1</i> rs1130233 and rs1130214 polymorphisms were found to be associated with an increased risk of PE.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"22 1","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143443138","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
Personalized medicine in colorectal cancer: a comprehensive study of precision diagnosis and treatment.
Personalized medicine Pub Date : 2025-02-01 Epub Date: 2025-02-09 DOI: 10.1080/17410541.2025.2459050
Fatemeh Gila, Somayeh Khoddam, Zahra Jamali, Mohmmad Ghasemian, Shayan Shakeri, Zeinab Dehghan, Jafar Fallahi
{"title":"Personalized medicine in colorectal cancer: a comprehensive study of precision diagnosis and treatment.","authors":"Fatemeh Gila, Somayeh Khoddam, Zahra Jamali, Mohmmad Ghasemian, Shayan Shakeri, Zeinab Dehghan, Jafar Fallahi","doi":"10.1080/17410541.2025.2459050","DOIUrl":"10.1080/17410541.2025.2459050","url":null,"abstract":"<p><p>Colorectal cancer is a common and fatal disease that affects many people globally. CRC is classified as the third most prevalent cancer among males and the second most frequent cancer among females worldwide. The purpose of this article is to examine how personalized medicine might be used to treat colorectal cancer. The classification of colorectal cancer based on molecular profiling, including the detection of significant gene mutations, genomic instability, and gene dysregulation, is the main topic of this discussion. Advanced technologies and biomarkers are among the detection methods that are explored, demonstrating their potential for early diagnosis and precise prognosis. In addition, the essay explores the world of treatment possibilities by providing light on FDA-approved personalized medicine solutions that provide individualized and precise interventions based on patient characteristics. This article assesses targeted treatments like cetuximab and nivolumab, looks at the therapeutic usefulness of biomarkers like microsatellite instability (MSI) and circulating tumor DNA (ctDNA), and investigates new approaches to combat resistance. Through this, our review provides a thorough overview of personalized medicine in the context of colorectal cancer, ultimately highlighting its potential to revolutionize the field and improve patient care.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"59-81"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384585","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
Pharmacogenomics education in China and the United States: advancing personalized medicine. 中国和美国的药物基因组学教育：推进个性化医疗。
Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-14 DOI: 10.1080/17410541.2024.2441651
Quanlin Wang, Shusen Sun, Wei Zhang, Dan Cao, Yisu Jin
{"title":"Pharmacogenomics education in China and the United States: advancing personalized medicine.","authors":"Quanlin Wang, Shusen Sun, Wei Zhang, Dan Cao, Yisu Jin","doi":"10.1080/17410541.2024.2441651","DOIUrl":"10.1080/17410541.2024.2441651","url":null,"abstract":"<p><p>Pharmacogenomics (PGx), an integral part of functional genomics and molecular pharmacology, has evolved significantly over the past decade. Our study reveals that PGx education in China and the United States has made substantial progress, with a particular emphasis on integrating PGx into medical curricula and clinical practice, leading to improved therapeutic strategies and patient outcomes. Consequently, both China and the United States are dedicated to fostering advancements in PGx education. This paper reviews PGx education in these two countries, highlighting its importance and providing an in-depth look at the current status and challenges within universities and clinical settings. Furthermore, it offers recommendations for advancing PGx education and contemplates future trends in both nations.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"21-27"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824924","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
Technological advances in clinical individualized medication for cancer therapy: from genes to whole organism.
Personalized medicine Pub Date : 2025-02-01 Epub Date: 2025-01-07 DOI: 10.1080/17410541.2024.2447224
Jiejing Kai, Xueling Liu, Meijia Wu, Pan Liu, Meihua Lin, Hongyu Yang, Qingwei Zhao
{"title":"Technological advances in clinical individualized medication for cancer therapy: from genes to whole organism.","authors":"Jiejing Kai, Xueling Liu, Meijia Wu, Pan Liu, Meihua Lin, Hongyu Yang, Qingwei Zhao","doi":"10.1080/17410541.2024.2447224","DOIUrl":"10.1080/17410541.2024.2447224","url":null,"abstract":"<p><p>Efforts have been made to leverage technology to accurately identify tumor characteristics and predict how each cancer patient may respond to medications. This involves collecting data from various sources such as genomic data, histological information, functional drug profiling, and drug metabolism using techniques like polymerase chain reaction, sanger sequencing, next-generation sequencing, fluorescence in situ hybridization, immunohistochemistry staining, patient-derived tumor xenograft models, patient-derived organoid models, and therapeutic drug monitoring. The utilization of diverse detection technologies in clinical practice has made \"individualized treatment\" possible, but the desired level of accuracy has not been fully attained yet. Here, we briefly summarize the conventional and state-of-the-art technologies contributing to individualized medication in clinical settings, aiming to explore therapy options enhancing clinical outcomes.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"45-58"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401117","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 novel TGFβR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report. 主动脉瘤和主动脉夹层家族史患者的新型 TGFβR2 剪接变体：病例报告。
Personalized medicine Pub Date : 2024-04-18 DOI: 10.2217/pme-2023-0135
Cecilia Vecoli, I. Foffa, Simona Vittorini, N. Botto, Augusto Esposito, Sabrina Costa, Valeria Piagneri, P. Festa, L. Ait-Ali
{"title":"A novel TGFβR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report.","authors":"Cecilia Vecoli, I. Foffa, Simona Vittorini, N. Botto, Augusto Esposito, Sabrina Costa, Valeria Piagneri, P. Festa, L. Ait-Ali","doi":"10.2217/pme-2023-0135","DOIUrl":"https://doi.org/10.2217/pme-2023-0135","url":null,"abstract":"We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (c.1600-1G>T) of TGFβR2 gene was identified by using a targeted multi-gene panel analysis. Bioinformatics tools predicted that the c.1600-1G>T variant is pathogenic by altering acceptor splice site at - 1 position affecting pre-mRNA splicing. These data confirm that the diverging splicing in the TGF-β pathway genes may be an important process in aneurismal disease and emphasize the utility of genetic sequencing in the identification of high-risk patients for a more patient's management able to improve outcomes and minimize costs for the care of patients with heritable thoracic aortic aneurysm and dissection.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140687245","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
The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy. 3776 名越南妊娠期临床异常胎儿染色体畸变的遗传情况。
Personalized medicine Pub Date : 2024-04-04 DOI: 10.2217/pme-2023-0113
D. Tran, Minh Ngoc Phan, Hong Thuy Dao, Hong-Dang Luu Nguyen, Duy-Anh Nguyen, Quang-Thanh Le, Diem-Tuyet Thi Hoang, Nhat-Thang Tran, Thi Minh Thi Ha, Thuy Linh Dinh, C. Nguyen, Kim Phuong Thi Doan, Lan-Anh Thi Luong, Ta Son Vo, Thu Huong Nhat Trinh, V. Nguyen, Phuong-Anh Ngoc Vo, Y. Nguyen, My-An Dinh, Phuoc-Loc Doan, T. T. Do, Q. Nguyen, D. Truong, Hoai-Nghia Nguyen, Minh-Duy Phan, Hung-Sang Tang, H. Giang
{"title":"The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.","authors":"D. Tran, Minh Ngoc Phan, Hong Thuy Dao, Hong-Dang Luu Nguyen, Duy-Anh Nguyen, Quang-Thanh Le, Diem-Tuyet Thi Hoang, Nhat-Thang Tran, Thi Minh Thi Ha, Thuy Linh Dinh, C. Nguyen, Kim Phuong Thi Doan, Lan-Anh Thi Luong, Ta Son Vo, Thu Huong Nhat Trinh, V. Nguyen, Phuong-Anh Ngoc Vo, Y. Nguyen, My-An Dinh, Phuoc-Loc Doan, T. T. Do, Q. Nguyen, D. Truong, Hoai-Nghia Nguyen, Minh-Duy Phan, Hung-Sang Tang, H. Giang","doi":"10.2217/pme-2023-0113","DOIUrl":"https://doi.org/10.2217/pme-2023-0113","url":null,"abstract":"Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"76 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140741524","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
Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population. 在中国汉族男性人群中初步研究已发现的新的 HAPE 风险易感基因位点。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-06-28 DOI: 10.1080/17410541.2024.2365617
Beibei Zhao, Changchun Liu, Yijin Qi, Tianyi Zhang, Yuhe Wang, Xue He, Li Wang, Tianbo Jin
{"title":"Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population.","authors":"Beibei Zhao, Changchun Liu, Yijin Qi, Tianyi Zhang, Yuhe Wang, Xue He, Li Wang, Tianbo Jin","doi":"10.1080/17410541.2024.2365617","DOIUrl":"10.1080/17410541.2024.2365617","url":null,"abstract":"<p><p>High altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic pulmonary edema. In recent years, association studies have become the main method for identifying HAPE genetic loci. A genome-wide association study (GWAS) of HAPE risk-associated loci was performed in Chinese male Han individuals (164 HAPE cases and 189 healthy controls) by the Precision Medicine Diversity Array Chip with 2,771,835 loci (Applied Biosystems Axiom™). Eight overlapping candidate loci in <i>CCNG2</i>, <i>RP11-445O3.2</i>, <i>NUPL1</i> and <i>WWOX</i> were finally selected. <i>In silico</i> functional analyses displayed the PPI network, functional enrichment and signal pathways related to <i>CCNG2</i>, <i>NUPL1</i>, <i>WWOX</i> and <i>NRXN1</i>. This study provides data supplements for HAPE susceptibility gene loci and new insights into HAPE susceptibility.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"227-241"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141474155","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
Incidence of statin-associated muscle symptoms in patients taking statins with RYR1 or CACNA1S variants. 服用他汀类药物并伴有 RYR1 或 CACNA1S 变异的患者中他汀类药物相关肌肉症状的发生率。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-05-09 DOI: 10.1080/17410541.2024.2342223
Natasha J Petry, Amanda Massmann, Megan Bell, April Schultz, Joel Van Heukelom
{"title":"Incidence of statin-associated muscle symptoms in patients taking statins with <i>RYR1</i> or <i>CACNA1S</i> variants.","authors":"Natasha J Petry, Amanda Massmann, Megan Bell, April Schultz, Joel Van Heukelom","doi":"10.1080/17410541.2024.2342223","DOIUrl":"10.1080/17410541.2024.2342223","url":null,"abstract":"<p><p><b>Background:</b> Statins are commonly used medications. Variants in <i>SLCO1B1</i>, <i>CYP2C9</i>, and <i>ABCG2</i> are known predictors of muscle effects when taking statins. More exploratory genes include <i>RYR1</i> and <i>CACNA1S</i>, which can also be associated with disease conditions. <b>Methods:</b> Patients with pathogenic/likely pathogenic variants in <i>RYR1</i> or <i>CACNA1S</i> were identified through an elective genomic testing program. Through chart review, patients with a history of statin use were assessed for statin-associated muscle symptoms (SAMS) along with collection of demographics and other known risk factors for SAMS. <b>Results:</b> Of the 23 patients who had a pathogenic or likely pathogenic <i>RYR1</i> or <i>CACNA1S</i> variant found, 12 had previous statin use; of these, SAMS were identified in four patients. <b>Conclusion:</b> These data contribute to previous literature suggesting patients with <i>RYR1</i> variants may have an increased SAMS risk. Additional research will be helpful in further investigating this relationship and providing recommendations.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"145-150"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140900746","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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