Pharmacogenetics and genomics最新文献

{"title":"Pharmacogenomics of commonly used intravenous anesthetics.","authors":"Nayla Kassab, Joseph Abourjeili, Mary Joe Eid, Christian K Raphael","doi":"10.1097/FPC.0000000000000582","DOIUrl":"10.1097/FPC.0000000000000582","url":null,"abstract":"<p><p>Pharmacogenomics (PGx) is a scientific field that aims to understand how an individual's genetic code regulates drug metabolism and response. The response to many anesthetic drugs varies widely among patients due to many factors including, but not limited to, age, gender, and comorbidities. However, PGx contributes to this variability, particularly regarding adverse drug reactions. This review explores the influence of PGx on five commonly used induction agents in anesthesia: propofol, midazolam, ketamine, etomidate, and thiopental. Propofol metabolism is significantly affected by polymorphisms in CYP2B6, CYP2C9, and UGT1A9, influencing both efficacy and toxicity. Midazolam's PGx is mainly mediated by variations in CYP3A4, CYP3A5, and UDP-glucuronosyltransferase enzymes, with implications for sedation depth and drug clearance. Ketamine response is modulated by polymorphisms in metabolic enzymes (e.g. CYP2B6), as well as neurobiological targets such as brain-derived neurotrophic factor and gamma-aminobutyric acid (GABA) receptors, particularly in psychiatric applications. Etomidate shows less studied but emerging PGx associations, including single-nucleotide polymorphisms in GABA receptor subunits and metabolic enzymes, which may affect both sedative depth and cardiovascular stability. Thiopental is a rapid-acting metabolite whose effect stems from GABA-A receptor potentiation; no studies have yet identified specific genetic polymorphisms influencing its action. Overall, PGx provides a promising avenue for tailoring anesthetic management to improve patient safety and outcomes. However, clinical integration remains limited due to practical and infrastructural barriers. This review highlights the potential and current limitations of pharmacogenomic-guided anesthesia, underscoring its relevance in the era of precision medicine.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"25-31"},"PeriodicalIF":1.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145820168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacogenetic testing versus standard prescribing of psychotropics for the treatment of severe mood disorders: A randomized controlled trial protocol.","authors":"Malcolm Hopwood, Angela Komiti, Melanie Hurley, Chad A Bousman","doi":"10.1097/FPC.0000000000000585","DOIUrl":"10.1097/FPC.0000000000000585","url":null,"abstract":"<p><strong>Background: </strong>Major depressive disorder (MDD) and bipolar disorder (BD) are common, disabling conditions. Despite associated morbidity and premature mortality, current treatments have modest efficacy and response to treatment highly variable. Contributing factors to variability in response include influence of common genetic variations in the pharmacokinetic and/or pharmacodynamic action of medications. As such, attention has turned toward the identification of genetic markers that could assist with determining who will respond or not to psychotropic treatment. Results of studies to date are promising but primarily have been small. This study aims to evaluate the efficacy of a pharmacogenetic (PGx)-based decision support tool among adults with MDD and BD.</p><p><strong>Methods: </strong>This single-site, single (rater) blinded, randomized controlled trial with two arms evaluates the 24-week efficacy of a PGx-based support tool for adults with MDD or BD. Participants are randomized to receive PGx testing or standard prescribing. Participants provide DNA samples at baseline, but only those (including clinicians) randomized to the former receive the results at the start of their study participation. It is not mandatory for clinicians to follow the test recommendations. Remission rate (primary outcome), change in depression symptoms, drop-out rate, medication adherence, and medication side effects (secondary outcomes) are assessed at 4-, 8-, 12-, and 24-week postbaseline by a blinded rater. Analyses will follow an intention-to-treat approach and use mixed models for repeated measures.</p><p><strong>Discussion: </strong>Treatment response to medication for severe mood disorders is highly variable and less than optimal. This trial will provide evidence as to whether a PGx-based support tool is an efficacious strategy to inform selection and dosing of pharmacotherapy among adults with severe mood disorders. Importantly, it will do so independently and with a larger sample size than previous studies.</p><p><strong>Trial registration: </strong>This trial is registered under the number ACTRN12621001374853 (11 Oct 2021).</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"63-70"},"PeriodicalIF":1.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145763534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of risk priority number of failure mode and effects analysis to drug-variant pairs for severe cutaneous adverse reactions in Korean and American populations.","authors":"Hyun Kyung Lee, Min Ju Kang, Hajung Kim, Ha Young Jang, Nayoung Han, In-Wha Kim, Jung Mi Oh","doi":"10.1097/FPC.0000000000000596","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000596","url":null,"abstract":"<p><strong>Objectives: </strong>Given the varying frequency and significance of genetic factors associated with severe cutaneous adverse reactions (SCARs) across different ethnicities, this study aimed to identify high-risk priority drug-variant pairs by considering genetic differences between Korea and the USA to inform preventive strategies.</p><p><strong>Methods: </strong>A list of drug-variant pairs associated with SCARs was identified using the Pharmacogenomics Knowledge Base. Prioritization of drug-variant pairs for preventive strategies was conducted using the risk priority number (RPN) method incorporating expert opinions in the field of drug allergy. The RPN for each drug-variant was calculated based on severity, probability, and detectability, with each parameter derived as an odds ratio of the genetic variant associated with SCARs, the occurrence frequency of drug-associated SCARs, and the variant prevalence in Korean and American populations, respectively. Higher values were evaluated as higher priority.</p><p><strong>Results: </strong>A total of 80 drug-variant pairs from 16 drugs associated with SCARs were identified in Koreans, and 12 drug-variant pairs from four drugs in Americans. Six drug-variant pairs were included in Korean drug labels, while only two drug-variant pairs were included in US drug labels. In Koreans, the highest priority drug-variant pair was rs3131003 for allopurinol, which is in moderate linkage disequilibrium with HLA-B*58:01, whereas in Americans, HLA-B*58:01 itself for allopurinol was the highest priority variant.</p><p><strong>Conclusion: </strong>Drug-variant pairs with high RPN scores can be prioritized in clinical strategies to prevent SCARs in Korean and American populations. Incorporating these findings into clinical practices could ultimately contribute to the safe use of drugs.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147474924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of TPMT and NUDT15 diplotypes in Mexican children with B-cell acute lymphoblastic leukemia.","authors":"Joaquin Garcia-Solorio, Carolina Molina-Garay, Víctor Jesús Sánchez-Martínez, Beatriz Eugenia Villegas-Torres, Irlanda Campos-Perez, Marco Jiménez-Olivares, Fernanda Flores-Espino, Diana Casique-Aguirre, Juan Carlos Núñez-Enriquez, Janet Flores-Lujano, Minerva Mata-Rocha, José Gabriel Peñaloza-Gonzalez, Victor Hugo Olivares-Villalpando, Ma Del Rocío Baños-Lara, Ángel García-Soto, César Alejandro Galván-Díaz, Alberto Olaya-Vargas, Moises Solano-Cardozo, Miguel Ángel Garrido-Hernández, Nuria Citlalli Luna-Silva, Lena Sarahi Cano-Cuapio, Karol Carrillo-Sanchez, Luis Leonardo Flores-Lagunes, Elvia Cristina Mendoza-Caamal, Vincent González-Osnaya, Rosana Pelayo-Camacho, Juan Manuel Mejía-Arangure, Jun J Yang, Carmen Alaez-Verson","doi":"10.1097/FPC.0000000000000593","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000593","url":null,"abstract":"<p><strong>Objective: </strong>To characterize the allelic and diplotype variability of TPMT and NUDT15 in pediatric patients with B-cell acute lymphoblastic leukemia from the central-southern region of Mexico.</p><p><strong>Methods: </strong>Samples from 275 pediatric B-cell acute lymphoblastic leukemia patients were analyzed. Next-generation sequencing was used for TPMT and NUDT15 genotyping. Alleles and diplotypes were assessed according to the Clinical Pharmacogenetics Implementation Consortium guidelines. Their geographic distribution was compared across Mexican states and global populations. In-silico analyses were conducted to assess the structural and functional impact of TPMT variants not associated with star alleles.</p><p><strong>Results: </strong>The wild-type *1 allele, associated with normal enzymatic activity, was predominant in both genes: TPMT (94.15%) and NUDT15 (90.45%). TPMT showed greater allelic diversity compared with previous studies in Mexican populations. Alleles conferring absent or indeterminate enzymatic activity in TPMT were distributed across six diplotypes (11.62%), with *3A allele (4.73%) and *1/*3A diplotype (9.45%) being the most frequent. Additionally, two unclassified TPMT variants, p.G126A and p.D137Y, were identified. For NUDT15, three non-wild-type diplotypes were observed (19.09%), with the *2 allele (6.74%) and *1*/2 diplotype (13.48%) being the most prevalent.</p><p><strong>Conclusion: </strong>Approximately 28% of patients carried TPMT and/or NUDT15 variants associated with non-wild-type enzymatic activity, increasing the risk of mercaptopurine-induced myelotoxicity. Preemptive genotyping is essential to reduce toxicity, optimize treatment, and advance precision medicine in this population. Additionally, the two TPMT variants p.G126A and p.D137Y, currently not classified within Clinical Pharmacogenetics Implementation Consortium-defined star alleles, highlight the need for functional validation and potential clinical classification to improve pharmacogenetic interpretation in diverse populations.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146106679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of uridine diphosphate glucuronosyltransferase 1A4 polymorphisms on posaconazole exposure.","authors":"Katherine Zhao, Vy Lam, Gregory Eschenauer, Brett Vanderwerff, Sebastian Zöllner, Daniel L Hertz, Samuel L Aitken, Amy L Pasternak","doi":"10.1097/FPC.0000000000000594","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000594","url":null,"abstract":"<p><p>Posaconazole is used to treat and prevent invasive fungal infections. Posaconazole metabolism is mediated by the uridine 5'-diphopho-glucuronosyltransferase (UGT) 1A4 enzyme; prior studies have suggested UGT1A4*3 contributes to low posaconazole exposure, while the impact of UGT1A4*2 is unclear. This study aimed to further understand the relationship between posaconazole exposure and UGT1A4 genotypes. Steady-state posaconazole plasma concentrations (PPCs) and demographics of patients who received the oral tablet formulation of posaconazole were collected, retrospectively, regardless of the patient's underlying diagnoses. UGT1A4 genotypes were obtained from the institutional research biorepository. The patients' dose-controlled PPCs, PPCs, and clinical PPC categorizations by institutional prophylaxis and treatment targets were analyzed among UGT1A4 genotypes. Breakthrough infection data were also collected in patients receiving posaconazole prophylaxis. A total of 103 patients were included, with 21 (20.3%) UGT1A4 *1/*3, 76 (73.7%) UGT1A4 *1/*1, and 6 (5.8%) UGT1A4 *1/*2. The dose-controlled PPCs [(ng/ml)/(mg/day)] were 3.63 (2.45-6.92) for UGT1A4 *1/*3, 5.07 (3.04-7.11) for *1/*1, and 4.92 (2.89-6.12) for *1/*2 (P = 0.62). Additionally, no statistically significant differences in median PPC or clinical PPC prophylaxis and treatment classifications were found among UGT1A4 genotypes. One UGT1A4 *1/*3 and two *1/*1 patients experienced possible breakthrough fungal infections. This study did not confirm the previously reported association between UGT1A4*3 and reduced posaconazole exposure and found no association with UGT1A4*2. Further studies are needed to determine the impact of homozygous UGT1A4 variants on posaconazole exposure.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146132507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between SLCO1B1, apolipoprotein E and ABCG2 genes and lipid response to rosuvastatin: a meta-analysis.","authors":"Jianhai Li, Yongkun Deng, Yong Lai, Lei Li, Limei Yu, Huiyou Li, Zhaohen Yin, Lingyan Liu","doi":"10.1097/FPC.0000000000000592","DOIUrl":"10.1097/FPC.0000000000000592","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the effects of SLCO1B1, apolipoprotein E (APOE) and ABCG2 gene polymorphisms on the lipid-modulating efficacy of rosuvastatin.</p><p><strong>Methods: </strong>Systematic searches were conducted in PubMed, Cochrane Library, Embase, Web of Science, PharmGKB, CNKI, VIP, and Wanfang databases (from database establishment to 1 March 2025). Studies on the correlation between SLCO1B1, APOE, ABCG2 gene polymorphisms and the lipid-modulating efficacy of rosuvastatin were collected, and meta-analysis was performed using RevMan 5.4 software.</p><p><strong>Results: </strong>A total of 16 studies involving 6167 patients were included, covering APOE (p.C130R/rs429358, p.R176C/rs741), SLCO1B1 (p.V174A/rs4149056, p.N130D/rs2306283), and ABCG2 (p.Q141K/rs2231142) genes. The results showed that SLCO1B1 [AG+GG vs. AA, mean difference = -4.36, 95% confidence interval (CI): -7.92 to -0.80, P = 0.02], APOE (E2 vs. E3, mean difference = -5.58, 95% CI: -8.04 to -2.51, P < 0.00001] and ABCG2 (CA+AA vs. CC, mean difference = -7.07, 95% CI: -9.47 to -4.68, P < 0.00001) genotypes all significantly affected statin-induced low-density lipoprotein cholesterol (LDL-C) reduction; patients with ABCG2 CA+AA genotype had statistically significant differences in total cholesterol level changes (mean difference = -7.15, 95% CI: -8.78 to -5.53) and triglyceride level changes (mean difference = -7.37, 95% CI: -10.91 to -3.83) (both P < 0.05).</p><p><strong>Conclusion: </strong>The lipid-lowering efficacy of rosuvastatin (especially the reduction of LDL-C level) is significantly affected by the polymorphisms of SLCO1B1 (c.388A>G), ApoE (c.388T>C, c.526C>T) and ABCG2 (c.421C>A) genes.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13007914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146019088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inferring germline pharmacogenomics from tumor transcriptome.","authors":"Wenjian Yang, Gang Wu, Jeffery M Klco, Kim E Nichols, Sima Jeha, Hiroto Inaba, Ching-Hon Pui, Nickhill Bhakta, Ulrich Broeckel, Jun J Yang, Cyrine E Haidar","doi":"10.1097/FPC.0000000000000576","DOIUrl":"10.1097/FPC.0000000000000576","url":null,"abstract":"<p><strong>Objectives: </strong>Pharmacogenomic testing is rapidly becoming the standard of care in treating pediatric acute lymphoblastic leukemia (ALL). Risk classification of ALL can be performed through whole transcriptome sequencing (WTS) of diagnostic tumor samples. We evaluated the feasibility of inferring germline pharmacogenomic genotypes from the tumor transcriptome in ALL.</p><p><strong>Methods: </strong>Transcriptome and paired tumor-germline genome sequencing data were collected from clinical testing at St. Jude Children's Research Hospital. Genotypes for pharmacogenes that are actionable for medications used in the management of pediatric ALL ( TPMT, NUDT15 , and G6PD ) were determined using a rule-based algorithm from transcriptome data. WTS-derived genotype calls were compared with germline genotypes obtained from whole genome sequencing (WGS) and clinical genotyping assays.</p><p><strong>Results: </strong>Among 650 patients with ALL, 36 (5.5%) patients had somatic copy number loss on chromosomes 6, 13, or X, where TPMT , NUDT15 , and G6PD are located, respectively. For the remaining 614 patients, WTS provided thiopurine dosing guidance by calling both TPMT and NUDT15 diplotypes in 545 patients (83.8%). For G6PD , accurate genotyping was called for 367 male patients. We observed a greater than 99% concordance between tumor WTS and germline WGS diplotypes for all three genes.</p><p><strong>Conclusion: </strong>The leukemia transcriptome can be used to provide accurate genotyping calls for select germline pharmacogenes actionable in the treatment of pediatric ALL.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacogenetic testing coverage by Canadian insurance providers.","authors":"Ruby Brubaker-Plitt, Chad A Bousman","doi":"10.1097/FPC.0000000000000579","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000579","url":null,"abstract":"<p><p>In Canada, access to pharmacogenetic (PGx) testing remains limited, particularly outside of research institutions, and commercial testing is often cost-prohibitive. To address access challenges, several Canadian insurance providers have begun offering PGx test coverage; however, the extent and nature of this coverage remain unclear. This study systematically reviewed publicly available PGx coverage policies from Canadian insurance companies to evaluate eligibility requirements, affiliated laboratories, and clinical actionability of test panels. Ten Canadian insurers were identified with publicly accessible PGx testing policies. Six offered partial reimbursement or discounted pricing to all members, while four restricted full coverage to individuals meeting specific criteria, such as being on disability leave or having a physician's diagnosis. Eligibility requirements varied considerably, with some insurers requiring multiple conditions to be met. Four commercial laboratories were affiliated with insurers, but these labs differed substantially in the number of actionable genes and drugs tested. Our findings highlight substantial heterogeneity in insurer eligibility criteria and affiliate lab test comprehensiveness that may create inequities in access and quality of care. Furthermore, variability in insurance coverage may influence clinicians' willingness to recommend testing and patients' ability to access personalized therapy. These findings underscore the need for standardized PGx testing coverage policies and harmonized testing panels. Collaboration among insurers, researchers, and clinicians is essential to generating Canadian-specific evidence to guide equitable and clinically effective PGx implementation.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":"36 1","pages":"18-22"},"PeriodicalIF":1.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145431911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"GLP1R and OCT1 variants modulate semaglutide and metformin response in type 2 diabetes.","authors":"Ivan Tourtourikov, Maria Kalinkova, Peter Ivanov, Rene Mileva-Popova, Radka Tafradjiiska-Hadjiolova, Teodora Handjieva-Darlenska, Tanya Kadiyska","doi":"10.1097/FPC.0000000000000577","DOIUrl":"10.1097/FPC.0000000000000577","url":null,"abstract":"<p><strong>Background: </strong>Large consortia link variants in SLC22A1 , SLC47A1 , and GLP1R to antidiabetic response, yet few data confirm these effects in small real-world cohorts. We tested whether three common polymorphisms translate into measurable 3-month metabolic changes.</p><p><strong>Methods: </strong>Twenty-seven Bulgarian adults with type 2 diabetes [BMI ≥ 25 kg/m²; mean glycated hemoglobin (HbA1c): 8.3 ± 0.9%] received metformin XR 2000 mg ( n  = 17) or oral semaglutide 14 mg ( n  = 10). Sanger sequencing identified SLC22A1 rs628031, SLC47A1 rs2252281, and GLP1R rs6923761. Primary endpoints were 3-month changes (Δ) in weight and HbA1c; analysis of variance and ordinary least squares regression assessed genotype and treatment effects, as well as covariate-adjusted linear models of 3-month change (Δ).</p><p><strong>Results: </strong>Semaglutide produced greater weight loss than metformin [-6.5 ± 3.6 vs. -1.6 ± 2.5 kg; 95% confidence interval (CI) -7.6 to -2.2; P  = 0.001] and larger BMI reduction (-2.0 ± 1.2 vs. -0.3 ± 0.9 kg/m²; P  = 0.001). At an exploratory 10% FDR, only OCT1 rs34130495 dosage was associated with high-density lipoprotein (HDL) change in metformin-treated participants ( β = +0.340 mmol/L per minor allele; P  = 0.0026; q  = 0.063; N  = 16). GLP1R rs6923761 showed nominal trends for weight and BMI change in semaglutide users that did not survive FDR ( P  ≈ 0.06-0.07; q  ≈ 0.29; N  = 10).</p><p><strong>Conclusion: </strong>Semaglutide outperformed metformin for short-term weight loss. An HDL signal for OCT1 rs34130495 at an exploratory 10% FDR warrants replication. These hypothesis-generating data support the feasibility of genotype-guided studies in local clinical settings.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"9-17"},"PeriodicalIF":1.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Genetic Variation in CES, UGT, ABC, and SLCO with Irinotecan Infusion Reactions and Severe Toxicity: Corrigendum.","authors":"Kelly I Nugent, Lyucheng Huang, Maisa Nazzal, Amy L Pasternak, Daniel L Hertz","doi":"10.1097/FPC.0000000000000578","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000578","url":null,"abstract":"","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":"36 1","pages":"23"},"PeriodicalIF":1.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145431967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}