Bidirectional two-sample Mendelian randomization analysis identifies protein C rather than protein S or antithrombin-III as associated with deep venous thrombosis

Introduction Observational studies have indicated significant contributions of protein C and protein S to thrombotic diseases, yet the “anticoagulation paradox” in deep venous thrombosis (DVT) remains unresolved. Therefore, we conducted an investigation to discern the causal effects of protein C, pr...

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Main Authors: Liang Shu, Liyan Sun, Cong Yu, Dabin Ren, Yisong Zhang, Ping Zheng
Format: Article
Language:English
Published: Termedia Publishing House 2024-06-01
Series:Archives of Medical Science
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Online Access:https://www.archivesofmedicalscience.com/Bidirectional-two-sample-Mendelian-randomization-analysis-identifies-protein-C-rather,188205,0,2.html
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Summary:Introduction Observational studies have indicated significant contributions of protein C and protein S to thrombotic diseases, yet the “anticoagulation paradox” in deep venous thrombosis (DVT) remains unresolved. Therefore, we conducted an investigation to discern the causal effects of protein C, protein S and antithrombin-III on DVT risk. Material and methods We employed a two-sample (one to evaluate the gene-exposure relationship and the other to evaluate the gene-outcome relationship) bidirectional Mendelian randomization (MR) framework to assess the causal associations between protein C, protein S, antithrombin-III and DVT. Results Genetic associations with DVT were extracted from a comprehensive genome-wide association study involving 484,598 individuals. In the multivariable MR analysis, the odds ratios for DVT per standard deviation (SD) increase were 1.005 (95% CI: 1.002–1.008; p < 0.001) for protein C, 0.997 (95% CI: 0.992–1.001; p = 0.146) for protein S, and 1.001 (95% CI: 0.998–1.005; p = 0.456) for antithrombin-III. A two-step MR mediation analysis revealed that the association between protein C and DVT was partially mediated by body mass index, with a mediated proportion of 11.4% (95% confidence interval, 2.3% to 79.2%). Conclusions These findings provide insights into the genetic relationship between relative protein C rather than protein S or antithrombin-III levels and DVT, offering potential utility in identifying at-risk patients for DVT development.
ISSN:1734-1922
1896-9151