ArticleEuropean journal of human genetics : EJHG2019
Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 43 citations in OpenAlex.
- Pharmacogenomics of antibacterial and antiviral therapies: Clinical actionability, evidence gaps, and future directions.Pharmacological reviews · 2026Review
- Prescribed hormonal contraceptive use trends in the Estonian Biobank: A longitudinal observational study.PLoS medicine · 2026Observational
- Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6.NPJ genomic medicine · 2026Article
- Proof of principle concept for the analysis and functional prediction of rare genetic variants in the CYP2C19 and CYP2D6 genes.Human genomics · 2025Article
- The Estonian Biobank's journey from biobanking to personalized medicine.Nature communications · 2025Review
- Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications.Nature communications · 2025Article
- Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications.medRxiv : the preprint server for health sciences · 2024Article
- Genetic insights into the age-specific biological mechanisms governing human ovarian aging.American journal of human genetics · 2023Article
- Challenges Related to the Use of Next-Generation Sequencing for the Optimization of Drug Therapy.Handbook of experimental pharmacology · 2023Article
- PAnno: A pharmacogenomics annotation tool for clinical genomic testing.Frontiers in pharmacology · 2023Article
- Analysis of clinically relevant variants from ancestrally diverse Asian genomes.Nature communications · 2022Article
- Improving GWAS discovery and genomic prediction accuracy in biobank data.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- From pharmacogenetics to pharmaco-omics: Milestones and future directions.HGG advances · 2022Review
- Pharmacogenomics at the post-pandemic: If not now, then when?Frontiers in pharmacology · 2022Article
- The Genetics of Autoimmune Myositis.Frontiers in immunology · 2022Review
- Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.Frontiers in pharmacology · 2022Article
- Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits.Nature communications · 2021Article
- Genomic architecture and prediction of censored time-to-event phenotypes with a Bayesian genome-wide analysis.Nature communications · 2021Article
- Integration of Biobanks in National eHealth Ecosystems Facilitating Long-Term Longitudinal Clinical-Omics Studies and Citizens' Engagement in Research Through eHealthBioR.Frontiers in digital health · 2021Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pharmacogenomics aims to tailor pharmacological treatment to each individual by considering associations between genetic polymorphisms and adverse drug effects (ADEs). With technological advances, pharmacogenomic research has evolved from candidate gene analyses to genome-wide association studies. Here, we integrate deep whole-genome sequencing (WGS) information with drug prescription and ADE data from Estonian electronic health record (EHR) databases to evaluate genome- and pharmacome-wide associations on an unprecedented scale. We leveraged WGS data of 2240 Estonian Biobank participants and imputed all single-nucleotide variants (SNVs) with allele counts over 2 for 13,986 genotyped participants. Overall, we identified 41 (10 novel) loss-of-function and 567 (134 novel) missense variants in 64 very important pharmacogenes. The majority of the detected variants were very rare with frequencies below 0.05%, and 6 of the novel loss-of-function and 99 of the missense variants were only detected as single alleles (allele count = 1). We also validated documented pharmacogenetic associations and detected new independent variants in known gene-drug pairs. Specifically, we found that CTNNA3 was associated with myositis and myopathies among individuals taking nonsteroidal anti-inflammatory oxicams and replicated this finding in an extended cohort of 706 individuals. These findings illustrate that population-based WGS-coupled EHRs are a useful tool for biomarker discovery.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.