Pharmacogenomics最新文献_第9页

Cancer genetics and response to oncolytic virus treatment for ovarian cancer. 卵巢癌的癌症遗传学和对溶瘤病毒治疗的反应

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-11-20 DOI: 10.1080/14622416.2025.2580271

Erin L Fletcher, Alison O Cudmore, Barbara C Vanderhyden

{"title":"Cancer genetics and response to oncolytic virus treatment for ovarian cancer.","authors":"Erin L Fletcher, Alison O Cudmore, Barbara C Vanderhyden","doi":"10.1080/14622416.2025.2580271","DOIUrl":"10.1080/14622416.2025.2580271","url":null,"abstract":"Ovarian cancers (OCs) are often defined as poorly immunogenic tumors that have low response rates to current immunotherapies and frequently develop resistance to chemotherapies. Oncolytic viruses (OVs) are an emerging therapeutic approach that is favored due to its multifactorial mechanism of action; OVs aim to enhance immune cell recovery and infiltration into the tumor, in addition to assisting the immune system to identify and target evasive tumors. While many different OVs have been studied, this review focuses on the four that have been extensively tested in preclinical models and clinical trials with OC patients: vaccinia viruses, vesicular stomatitis virus, herpes simplex 1, and adenoviruses. We will first explore how these viruses have been developed, modified and tested as monotherapies in OCs, with limited success. The various combinatorial approaches involving OVs that are currently being investigated to improve the outcomes for OC patients will then be addressed. Attention will be given to how the genetics of OC cells may influence response to OVs and how that has led to genetic modifications of OVs that improve the cancer specificity and efficacy of these therapies.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"529-542"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145557636","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}

引用次数: 0

Glaucoma diagnosis and treatment in the era of precision medicine. 青光眼的诊断和治疗在精准医学时代。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-10-28 DOI: 10.1080/14622416.2025.2580267

Sara Labay-Tejado, Mercè Brunet, Elena Milla

{"title":"Glaucoma diagnosis and treatment in the era of precision medicine.","authors":"Sara Labay-Tejado, Mercè Brunet, Elena Milla","doi":"10.1080/14622416.2025.2580267","DOIUrl":"10.1080/14622416.2025.2580267","url":null,"abstract":"Glaucoma is a chronic, degenerative eye disease for which personalized diagnostic and therapeutic biomarkers are still lacking. Precision medicine offers a promising strategy to improve glaucoma management, and pharmacogenomics may play a key role in optimizing treatment response, minimizing side effects, and enhancing adherence. Advances in genetics have introduced potential tools such as polygenic risk scores (PRS) for adult-onset glaucoma and CRISPR/Cas9 for early-onset monogenic forms. Although still in its early stages, pharmacogenetic research in glaucoma has identified several genetic variants that may influence drug efficacy and security. Notably, single nucleotide polymorphisms in genes such as PTGFR, ADRB2 and CYP2D6 have been associated with varied responses to beta-blockers and prostaglandin analogues. Other candidate genes include ABCB1, SLCO2A1, AFAP1, and ADRB1, though findings remain preliminary. Despite the appeal of genetically guided therapy, broader implementation in clinical practice requires larger, multicenter validation studies, functional analysis of variants, and consensus on actionable biomarkers. Until then, early diagnosis, adherence, and timely treatment remain the pillars of glaucoma care. This narrative review provides an updated overview of the current evidence, knowledge gaps, and future directions in the pharmacogenomics of glaucoma.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"543-558"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145378370","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}

引用次数: 0

Genetic polymorphisms of VEGFR2 and FGFR2 genes are associated with exposure to sunitinib and cardiovascular toxicity. VEGFR2和FGFR2基因的遗传多态性与舒尼替尼暴露和心血管毒性有关。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-11-24 DOI: 10.1080/14622416.2025.2579001

Litaty C Mbatchi, Fanny Leenhardt, Bob-Valéry Occean, Olivier Perrin, Jean-Christophe Boyer, Céline Gongora, Philippe Pourquier, Thibault Mura, Angélique Chapelle, Delphine Topart, Alexandre Evrard, Nadine Houede

{"title":"Genetic polymorphisms of VEGFR2 and FGFR2 genes are associated with exposure to sunitinib and cardiovascular toxicity.","authors":"Litaty C Mbatchi, Fanny Leenhardt, Bob-Valéry Occean, Olivier Perrin, Jean-Christophe Boyer, Céline Gongora, Philippe Pourquier, Thibault Mura, Angélique Chapelle, Delphine Topart, Alexandre Evrard, Nadine Houede","doi":"10.1080/14622416.2025.2579001","DOIUrl":"10.1080/14622416.2025.2579001","url":null,"abstract":"Purpose: Sunitinib is a multikinase inhibitor used to treat metastatic renal cell carcinoma (mRCC), with an inter-individual variability of pharmacokinetics and toxicity. Our goal was to assess associations between the pharmacogenetics, pharmacokinetics and toxicity of sunitinib.Methods: In this multi-center prospective study, 42 patients with mRCC were included. An NGS panel was used to identify variations in 19 genes involved in sunitinib pharmacokinetics and pharmacodynamics. Residual concentration of sunitinib and N-desethyl-sunitinib were used to estimate a composite AUC at steady-state.Results: Fifty-seven percent of patients had a plasma exposure within the optimal therapeutic range. A higher composite AUC led to significantly greater risk of endocrine toxicity (p = 0.008) and neurologic toxicity (p = 0.024), and to a non-significantly greater risk of cardiovascular toxicity (p = 0.11). A alleles of FGFR2-rs2981582 and VEFGFR2-rs1870377 were associated with a lower risk of cardiovascular toxicity (OR = 0.22 [0.05-0.97], p = 0.04 and OR = 0.17 [0.04- 0.73], p = 0.01 respectively) and with a lower composite AUC (p = 0.02 and p = 0.0002 respectively).Conclusion: We demonstrated for the first time, an association between genetics polymorphisms in sunitinib targets and extent of exposure to this molecule as well as their association associated with the risk of cardiovascular toxicity. We described the concentration dependence of neurological and endocrine toxicity.Trial registration: NCT02404584, registered 26 March 2015.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"485-493"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145588353","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}

引用次数: 0

The impact of GST genetic polymorphisms on the response to oxaliplatin-based chemotherapy and survival prognosis in gastric cancer patients. GST基因多态性对胃癌患者奥沙利铂化疗反应及生存预后的影响

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-11-12 DOI: 10.1080/14622416.2025.2583728

Jiaodi Zhang, Qi Jin, Tao Chen, Xinyue Liu

{"title":"The impact of GST genetic polymorphisms on the response to oxaliplatin-based chemotherapy and survival prognosis in gastric cancer patients.","authors":"Jiaodi Zhang, Qi Jin, Tao Chen, Xinyue Liu","doi":"10.1080/14622416.2025.2583728","DOIUrl":"10.1080/14622416.2025.2583728","url":null,"abstract":"Aim: This study aimed to assess the impact of GSTP1, GSTM1, and GSTT1 polymorphisms on the response to oxaliplatin-based chemotherapy and survival outcomes in gastric cancer patients from Northwest China.Patients and methods: Genotypes of GSTP1, GSTM1, and GSTT1 were analyzed in 185 gastric cancer patients receiving SOX/XELOX regimens. The associations of these genotypes with the objective response rate (ORR), progression-free survival (PFS), and overall survival (OS) were evaluated through logistic regression and Kaplan-Meier/Cox model analyses.Results: Patients carrying the GSTP1(AG+GG) genotype exhibited a significantly better chemotherapy response (OR = 0.301, p = 0.022) compared to those with the AA genotype. Additionally, the GSTP1 (AG+GG) genotype conferred a reduced risk of disease progression (HR = 1.645, log-rank p = 0.003) and mortality (HR = 1.705, log-rank p = 0.007) relative to the AA genotype. No significant associations were observed for GSTM1 or GSTT1 individually. However, the combined GSTP1(AG+GG)/GSTM1- genotype was linked to an improved chemotherapy response and significantly better overall and progression-free survival.Conclusion: The GSTP1 genotype status could be a valuable predictive biomarker for treatment response and survival, potentially facilitating more personalized therapeutic approaches for gastric cancer.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"503-511"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145496395","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}

引用次数: 0

ADIPOQ genotypes and haplotypes, circulating adiponectin levels and responsiveness to antihypertensive therapy in preeclampsia. ADIPOQ基因型和单倍型、循环脂联素水平和对子痫前期抗高血压治疗的反应性

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-10-12 DOI: 10.1080/14622416.2025.2572286

Daniela A Pereira, Ricardo N F de Castro, Ana C Palei, Ricardo C Cavalli, Valéria C Sandrim, Marcelo R Luizon

{"title":"ADIPOQ genotypes and haplotypes, circulating adiponectin levels and responsiveness to antihypertensive therapy in preeclampsia.","authors":"Daniela A Pereira, Ricardo N F de Castro, Ana C Palei, Ricardo C Cavalli, Valéria C Sandrim, Marcelo R Luizon","doi":"10.1080/14622416.2025.2572286","DOIUrl":"10.1080/14622416.2025.2572286","url":null,"abstract":"Aims: We compared plasma adiponectin levels between patients with preeclampsia (PE) classified as responsive and nonresponsive to antihypertensive therapy; Moreover, we examined whether ADIPOQ SNPs rs17300539, rs266729,rs2241766, and rs1501299 and their haplotypes are associated with responsiveness to antihypertensive therapy, and whether they affect plasma adiponectin levels in 215 pregnant women with PE.Patients & methods: Genotypes for ADIPOQ SNPs were determined using TaqMan allelic discrimination assays, and circulating adiponectin concentrations were measured by ELISA.Results: Patients with PE classified as nonresponsive to antihypertensive therapy showed higher plasma adiponectin levels than responsive patients. The TG genotype of the rs2241766 SNP was more frequent in responsive patients with PE when compared to nonresponsive patients. Nonresponsive patients with PE carrying specific genotypes of the ADIPOQ SNPs rs17300539 (GG or GA+AA), rs266729 (CC), rs2241766(TT), and rs1501299 (GT+TT), respectively, as well as the 'G,C,T,G' and 'G,C,T,T' haplotypes showed higher plasma adiponectin levels than responsive patients with PE carrying the same genotypes/haplotypes.Conclusions: Nonresponsive patients with PE showed higher plasma adiponectin levels than responsive patients, the TG genotype of the rs2241766 SNP was more frequent in the responsive patients with PE when compared to nonresponsive patients. Genotypes of rs17300539, rs266729, rs2241766, and rs1501299 SNPs and haplotypes may affect adiponectin levels in patients with PE classified as nonresponsive to antihypertensive therapy.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"475-484"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280981","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}

引用次数: 0

Characterizing models for delivery of pharmacogenomic testing: a scoping review. 表征药物基因组学测试交付模型：范围综述。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-10-14 DOI: 10.1080/14622416.2025.2571387

Zeina Waheed, Mary Bunka, Louisa Edwards, Chad Bousman, Alison Hoens, Jehannine J Austin, Stirling Bryan

{"title":"Characterizing models for delivery of pharmacogenomic testing: a scoping review.","authors":"Zeina Waheed, Mary Bunka, Louisa Edwards, Chad Bousman, Alison Hoens, Jehannine J Austin, Stirling Bryan","doi":"10.1080/14622416.2025.2571387","DOIUrl":"10.1080/14622416.2025.2571387","url":null,"abstract":"Pharmacogenomic (PGx) testing can help guide medication prescribing for a wide range of health indications. The objective of this scoping review was to understand how PGx testing has been clinically implemented and learn from these experiences. Research questions guiding this work were: (1) what different models for delivery of PGx testing have been employed? (2) what are the characteristics of each delivery model? and (3) what are the reported facilitators and barriers associated with each delivery model? A total of 134 articles reported on 125 PGx initiatives spanning 19 countries. Four unique delivery models were identified: sole prescriber-led (n = 45), prescriber-led within an interdisciplinary care team (n = 34), community pharmacist-led (n = 16), and PGx consultation service (n = 30). The unique combination of characteristics, and reported facilitators and barriers yielded distinct strengths and challenges for each identified delivery model. Findings from this review can help inform future implementation planning or expansion of PGx initiatives by presenting different delivery models that may be employed and the corresponding considerations for each approach. This information can help inform future implementers in the selection of one or more approaches that may be most suitable based on their unique contextual needs, and available infrastructures or resources.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"513-527"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145286706","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}

引用次数: 0

Pharmacogenetic markers of PEG-asparaginase toxicity in Brazilian pediatric ALL: insights from a multicenter prospective cohort study. 巴西儿童ALL中peg -天冬酰胺酶毒性的药理学标记：来自多中心前瞻性队列研究的见解。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-11-13 DOI: 10.1080/14622416.2025.2572961

Daiane Keller Cecconello, Klerize Anecely de Souza Silva, Evelin Cristine Mendonça de Senna, Lucas Alfeu Carlotto, Amanda Másculo de Souza, Mecneide Mendes Lins, Isis Maria Quezado Soares Magalhães, Ana Virgínia Lopes de Sousa, Sidnei Epelman, Lilian Cristofani, Tais Tereziano Barros, Mara Pianovski, Larissa Polis Moreira, Ciliana Rechenmacher, Liane Esteves Daudt, Mariana Bohns Michalowski

{"title":"Pharmacogenetic markers of PEG-asparaginase toxicity in Brazilian pediatric ALL: insights from a multicenter prospective cohort study.","authors":"Daiane Keller Cecconello, Klerize Anecely de Souza Silva, Evelin Cristine Mendonça de Senna, Lucas Alfeu Carlotto, Amanda Másculo de Souza, Mecneide Mendes Lins, Isis Maria Quezado Soares Magalhães, Ana Virgínia Lopes de Sousa, Sidnei Epelman, Lilian Cristofani, Tais Tereziano Barros, Mara Pianovski, Larissa Polis Moreira, Ciliana Rechenmacher, Liane Esteves Daudt, Mariana Bohns Michalowski","doi":"10.1080/14622416.2025.2572961","DOIUrl":"10.1080/14622416.2025.2572961","url":null,"abstract":"Aims: Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer. Although PEG-asparaginase (PEG-ASNase) is a key drug in treatment, hypersensitivity reactions, pancreatitis, and silent inactivation remain major challenges. Interindividual genetic variability influences drug metabolism and toxicity, and pharmacogenetic research aims to identify these variants early to predict specific responses effectively.Methods: We investigated the association between variants in NFATC2, GRIA1, CNOT3, MYBBP1A, ARHGAP28, ULK2, and RGS6 and PEG-ASNase - induced toxicities in a prospective multicenter study of 441 children with ALL. Genotyping was performed using TaqMan probes on saliva-extracted DNA.Results: Among patients, 9.7% developed allergies, 3.4% pancreatitis, and 10.1% silent inactivation, which was significantly associated with allergic reactions (p < 0.05). No significant associations were found between the genetic variants and hypersensitivity or pancreatitis (p > 0.05).Conclusions: No statistically significant associations were observed between the selected variants and PEG-ASNase-related hypersensitivity or pancreatitis in this cohort.This study highlights the importance of ancestry-informed approaches in pharmacogenomic research for ALL.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"495-501"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145506145","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}

引用次数: 0

CYP2D6 genotyping in a Korean cohort: comparative analysis with Asian, Caucasian, and African populations. 韩国队列CYP2D6基因分型：与亚洲、高加索和非洲人群的比较分析

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2025-07-01 Epub Date: 2025-09-26 DOI: 10.1080/14622416.2025.2565993

Tak Don Kim, Jung-Sook Kwak, Jae-Gook Shin, Ho-Sook Kim, Young-Ran Yoon, Mi-Ri Gwon, Min-Gul Kim, Seol Ju Moon, SeungHwan Lee, Chan Song Park, Ji Hye Song, Jang Hee Hong, Jung Sunwoo

{"title":"CYP2D6 genotyping in a Korean cohort: comparative analysis with Asian, Caucasian, and African populations.","authors":"Tak Don Kim, Jung-Sook Kwak, Jae-Gook Shin, Ho-Sook Kim, Young-Ran Yoon, Mi-Ri Gwon, Min-Gul Kim, Seol Ju Moon, SeungHwan Lee, Chan Song Park, Ji Hye Song, Jang Hee Hong, Jung Sunwoo","doi":"10.1080/14622416.2025.2565993","DOIUrl":"10.1080/14622416.2025.2565993","url":null,"abstract":"Background: Cytochrome P450 2D6 (CYP2D6) is a highly polymorphic enzyme responsible for metabolizing approximately 20% of commonly prescribed drugs. Its genetic variability contributes to interindividual and interethnic differences in drug response. However, large-scale studies on CYP2D6 allele distributions in the Korean population remain limited.Methods: We conducted CYP2D6 genotyping, including copy number variation analysis, in 3,874 unrelated Korean individuals recruited from five university hospitals. Genotypes were assigned diplotypes and phenotypes using the CPIC activity score system.Results: The most frequent allele was the decreased-function *10 (44.9%), followed by normal-function *1 (32.8%) and 2 (11.0%). The gene deletion five accounted for 5.7%. Among phenotypes, 62.2% were extensive metabolizers, 36.1% intermediate metabolizers, 0.9% ultrarapid metabolizers, and 0.4% poor metabolizers. We also identified CYP2D6 × 65, previously unreported in Koreans, and a novel duplication variant, CYP2D6 × 49x2.Conclusion: This is the largest study of CYP2D6 polymorphisms in a Korean population to date. It provides a comprehensive reference for Korean pharmacogenomics and highlights important interethnic differences. The findings support the development of personalized medicine strategies based on population-specific pharmacogenetic data.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"367-376"},"PeriodicalIF":1.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12582055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150343","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}

引用次数: 0

A genome-wide association study of stroke risk in Asian statin users: evidence from KoGES and UK Biobank. 亚洲他汀类药物使用者中风风险的全基因组关联研究：来自KoGES和UK Biobank的证据。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2025-07-01 Epub Date: 2025-09-15 DOI: 10.1080/14622416.2025.2558499

Da Hoon Lee, Yoon-A Park, Jung Sun Kim, Yubin Song, SeungJin Bae, Jeong Yee, Hye Sun Gwak

{"title":"A genome-wide association study of stroke risk in Asian statin users: evidence from KoGES and UK Biobank.","authors":"Da Hoon Lee, Yoon-A Park, Jung Sun Kim, Yubin Song, SeungJin Bae, Jeong Yee, Hye Sun Gwak","doi":"10.1080/14622416.2025.2558499","DOIUrl":"10.1080/14622416.2025.2558499","url":null,"abstract":"Background: Despite proven efficacy of statins in stroke prevention, genetic factors may influence individual stroke risk among statin users. With increasing precision medicine approaches and growing evidence of population-specific genetic variations, identifying genetic markers that predict stroke risk in statin-treated Asian populations has become critically important for personalized cardiovascular prevention strategies.Methods: We conducted a genome-wide association study of 1,678 participants using lipid-lowering agents in the Korean Genome and Epidemiology Study (KoGES) cohort. Significant findings were replicated in 2,170 Asian participants on statins from the UK Biobank using an additive genetic model adjusted for relevant covariates.Results: In the discovery analysis, 83 single nucleotide polymorphisms were suggestively associated with stroke (p <1.0 × 10-5). Among these, 21 SNPs in the CDH13 gene were associated with increased stroke risk. The lead SNP, rs7201829, was significantly replicated in the UK Biobank (odds ratio: 2.29, p = 2.39 × 10-5).Conclusions: This study identified CDH13 as a significant genetic marker associated with stroke risk among Asian statin users. These findings provide the first genome-wide evidence for genetic determinants of stroke susceptibility during statin therapy, supporting the development of personalized prevention strategies in Asian populations.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"331-337"},"PeriodicalIF":1.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12582056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065414","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}

引用次数: 0

Genetics and response to treatment with metformin for type 2 diabetes. 遗传学和二甲双胍治疗2型糖尿病的反应。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-07-01 Epub Date: 2025-10-01 DOI: 10.1080/14622416.2025.2565992

Laurence Tessier, Sophie St-Amour, Dorianne Simard, Joanie Bouchard, Patrice Perron, Karine Tremblay

引用次数: 0