Genetic and biological determinants of pulmonary embolism: Insights from Mendelian randomization studies

doi:10.5493/wjem.v16.i2.121046

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World Journal of Experimental Medicine

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2220-315X

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Exp Med. Jun 20, 2026; 16(2): 121046
Published online Jun 20, 2026. doi: 10.5493/wjem.v16.i2.121046

Genetic and biological determinants of pulmonary embolism: Insights from Mendelian randomization studies

Rupak Desai, Darsh Patel, Abhishek Prasad, Navya Mandalapu, Jai Nagarajan, Ananth Guddeti, Sourabh Khatri, Warda Shahnawaz, Abdul Aleem, Adil S Mohammed, Umera Yasmeen, Muhammad Usman Ghani

Rupak Desai, Outcomes Research, Independent Researcher, Atlanta, GA 30033, United States

Darsh Patel, Department of Medicine, Mercy Catholic Medical Center, Darby, PA 19023, United States

Abhishek Prasad, Department of Anesthesiology and Perioperative Medicine, MD Anderson Cancer Center, Houston, TX 77030, United States

Navya Mandalapu, Department of Medicine, BronxCare Health Sciences, Bronx, NY 10457, United States

Jai Nagarajan, Ananth Guddeti, Department of Internal Medicine, SUNY Upstate Medical University, Syracuse, NY 13210, United States

Sourabh Khatri, Department of Medicine, Independence Health System, Greensburg, PA 15601, United States

Warda Shahnawaz, Department of Medicine, Mobile Infirmary Medical Center, Mobile, AL 36604, United States

Abdul Aleem, Pulmonary and Critical Care Medicine, Henry Ford Health-Genesys Hospital, Grand Blanc, MI 48439, United States

Adil S Mohammed, Muhammad Usman Ghani, Department of Medicine, Central Michigan University, Saginaw, MI 48602, United States

Umera Yasmeen, Department of Medicine, Mamata Medical College, Rotary Nagar 507002, Khammam, India

Author contributions: Ghani MU conceptualized the study; Ghani MU and Desai R designed the methodology, reviewed and edited the manuscript, supervised the work; Patel D, Prasad A, Mandalapu N, Nagarajan J, and Guddeti A performed the literature review and data curation; Patel D, Prasad A, Mandalapu N, Nagarajan J, Guddeti A, Khatri S, Shahnawaz W, Aleem A, Mohammed AS, and Yasmeen U drafted the manuscript; Prasad A and Ghani MU prepared the figures and tables; all authors have read and approved the final manuscript.

Conflict-of-interest statement: All authors have no conflict of interests to declare for this manuscript.

Corresponding author: Muhammad Usman Ghani, MD, Assistant Professor, Department of Medicine, Central Michigan University, 1632 Stone Street, Saginaw, MI 48602, United States. usmanghani162@gmail.com

Received: March 16, 2026
Revised: April 13, 2026
Accepted: April 28, 2026
Published online: June 20, 2026
Processing time: 88 Days and 17.6 Hours

Core Tip

Core Tip: Mendelian randomization evidence indicates that matrix metalloproteinases (MMP)-19 may be associated with increased risk of pulmonary embolism (PE), while MMP-12 may exhibit an inverse association. Reduced kidney function appears to have a potential genetic association with PE susceptibility. Immune pathways involving HLA-DR-positive natural killer cell traits and gut microbiota-related factors, such as Clostridium innocuum, Butyricicoccus, and Actinobacteria, may also contribute to PE susceptibility. In contrast, no consistent associations were observed for type 2 diabetes mellitus, atrial fibrillation, or epigenetic age acceleration. These findings underscore emerging biological pathways in PE; however, they should be interpreted cautiously, as they are hypothesis-generating and require further validation.