Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions
Mendelian randomisation is an approach in genetic epidemiology that uses genetic variants as instrumental variables to investigate the causal relationship between genetically proxied exposures and health outcomes. During the last years, the number of published Mendelian randomisation studies increas...
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| Format: | Article |
| Language: | English |
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Ubiquity Press
2025-06-01
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| Series: | Global Heart |
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| Online Access: | https://account.globalheartjournal.com/index.php/up-j-gh/article/view/1438 |
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| author | Sophie C. de Ruiter Lena Tschiderer Diederick E. Grobbee Peter Willeit Hester M. den Ruijter A. Floriaan Schmidt Sanne A. E. Peters |
| author_facet | Sophie C. de Ruiter Lena Tschiderer Diederick E. Grobbee Peter Willeit Hester M. den Ruijter A. Floriaan Schmidt Sanne A. E. Peters |
| author_sort | Sophie C. de Ruiter |
| collection | DOAJ |
| description | Mendelian randomisation is an approach in genetic epidemiology that uses genetic variants as instrumental variables to investigate the causal relationship between genetically proxied exposures and health outcomes. During the last years, the number of published Mendelian randomisation studies increased tremendously. There are several opportunities of Mendelian randomisation including obtaining potential causal relationships between both exogenous and endogenous exposures and outcomes and for identifying and prioritising drug-targets to inform clinical trials. However, it is also important to be aware of its challenges. This includes the reliability of results under the assumptions on instrumental variables, being aware of potential biases, the correct and critical interpretation of findings and comparison to the results of randomised controlled trials, as well as the availability of genetic data on specific subgroups. This review provides a comprehensive overview of the opportunities and challenges of Mendelian randomisation and presents key future perspectives. |
| format | Article |
| id | doaj-art-f6b8669cae314f5fa9566d15f7d6da11 |
| institution | Kabale University |
| issn | 2211-8179 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Ubiquity Press |
| record_format | Article |
| series | Global Heart |
| spelling | doaj-art-f6b8669cae314f5fa9566d15f7d6da112025-08-20T03:51:09ZengUbiquity PressGlobal Heart2211-81792025-06-01201545410.5334/gh.14381419Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future DirectionsSophie C. de Ruiter0https://orcid.org/0000-0002-1871-1033Lena Tschiderer1https://orcid.org/0000-0001-7988-853XDiederick E. Grobbee2https://orcid.org/0000-0003-4472-4468Peter Willeit3https://orcid.org/0000-0002-1866-7159Hester M. den Ruijter4https://orcid.org/0000-0001-9762-014XA. Floriaan Schmidt5https://orcid.org/0000-0003-1327-0424Sanne A. E. Peters6https://orcid.org/0000-0003-0346-5412Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, UtrechtInstitute of Clinical Epidemiology, Public Health, Health Economics, Medical Statistics and Informatics, Medical University of Innsbruck, InnsbruckJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, UtrechtInstitute of Clinical Epidemiology, Public Health, Health Economics, Medical Statistics and Informatics, Medical University of Innsbruck, Innsbruck; Ignaz Semmelweis Institute, Interuniversity Institute for Infection Research, Medical University of Vienna, Vienna, AT; Department of Public Health and Primary Care, University of Cambridge, CambridgeLaboratory of Experimental Cardiology, Department of Cardiology, University Medical Center Utrecht, University Utrecht, UtrechtDepartment of Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, NL; Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, UK; Division Heart and Lungs, Department of Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, NL; UCL British Heart Foundation Research Accelerator, LondonJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, NL; The George Institute for Global Health, School of Public Health, Imperial College London, LondonMendelian randomisation is an approach in genetic epidemiology that uses genetic variants as instrumental variables to investigate the causal relationship between genetically proxied exposures and health outcomes. During the last years, the number of published Mendelian randomisation studies increased tremendously. There are several opportunities of Mendelian randomisation including obtaining potential causal relationships between both exogenous and endogenous exposures and outcomes and for identifying and prioritising drug-targets to inform clinical trials. However, it is also important to be aware of its challenges. This includes the reliability of results under the assumptions on instrumental variables, being aware of potential biases, the correct and critical interpretation of findings and comparison to the results of randomised controlled trials, as well as the availability of genetic data on specific subgroups. This review provides a comprehensive overview of the opportunities and challenges of Mendelian randomisation and presents key future perspectives.https://account.globalheartjournal.com/index.php/up-j-gh/article/view/1438mendelian randomisationopportunitieschallengesperspectivesubgroupssex-specificomics |
| spellingShingle | Sophie C. de Ruiter Lena Tschiderer Diederick E. Grobbee Peter Willeit Hester M. den Ruijter A. Floriaan Schmidt Sanne A. E. Peters Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions Global Heart mendelian randomisation opportunities challenges perspective subgroups sex-specific omics |
| title | Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions |
| title_full | Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions |
| title_fullStr | Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions |
| title_full_unstemmed | Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions |
| title_short | Mendelian Randomisation: Concepts, Opportunities, Challenges, and Future Directions |
| title_sort | mendelian randomisation concepts opportunities challenges and future directions |
| topic | mendelian randomisation opportunities challenges perspective subgroups sex-specific omics |
| url | https://account.globalheartjournal.com/index.php/up-j-gh/article/view/1438 |
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