Search: onr:"swepub:oai:lup.lub.lu.se:41e2154d-17b8-4cbc-bc2d-ad78f687ad5a" >
Classic Thrombophil...
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Manderstedt, EricKristianstad University,Faculty of Natural Science,Fakulteten för naturvetenskap
(author)
Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults : A Population-Based Cohort Study
- Article/chapterEnglish2022
Publisher, publication year, extent ...
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Wiley-Blackwell Publishing Ltd,2022
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LIBRIS-ID:oai:lup.lub.lu.se:41e2154d-17b8-4cbc-bc2d-ad78f687ad5a
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https://lup.lub.lu.se/record/41e2154d-17b8-4cbc-bc2d-ad78f687ad5aURI
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https://doi.org/10.1161/JAHA.121.023018DOI
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oai:researchportal.hkr.se/admin:publications/39d8743c-6bb3-4e75-bee9-b2022fe22adcURI
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Publisher Copyright: © 2022 The Authors and Regeneron Genetics Center. Published on behalf of the American Heart Association, Inc., by Wiley. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
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BACKGROUND: Five classic thrombophilias have been recognized: factor V Leiden (rs6025), the prothrombin G20210A variant (rs1799963), and protein C, protein S, and antithrombin deficiencies. This study aimed to determine the thrombotic risk of classic thrombophilias in a cohort of middle-aged and older adults. METHODS AND RESULTS: Factor V Leiden, prothrombin G20210A and protein-coding variants in the PROC (protein C), PROS1 (protein S), and SERPINC1 (antithrombin) anticoagulant genes were determined in 29 387 subjects (born 1923–1950, 60% women) who participated in the Malmö Diet and Cancer study (1991–1996). The Human Gene Mutation Database was used to define 68 disease-causing mutations. Patients were followed up from baseline until the first event of venous thromboembolism (VTE), death, or Dec 31, 2018. Carriership (n=908, 3.1%) for disease-causing mutations in the PROC, PROS1, and SERPINC1 genes was associated with incident VTE: Hazard ratio (HR) was 1.6 (95% CI, 1.3–1.9). Variants not in Human Gene Mutation Database were not linked to VTE (HR, 1.1; 95% CI, 0.8–1.5). Heterozygosity for rs6025 and rs1799963 was associated with incident VTE: HR, 1.8 (95% CI, 1.6–2.0) and HR, 1.6 (95% CI, 1.3–2.0), respectively. The HR for carrying 1 classical thrombophilia variant was 1.7 (95% CI, 1.6–1.9). HR was 3.9 (95% CI, 3.1–5.0) for carriers of ≥2 thrombophilia variants. CONCLUSIONS: The 5 classic thrombophilias are associated with a dose-graded risk of VTE in middle-aged and older adults. Disease-causing variants in the PROC, PROS1, and SERPINC1 genes were more common than the rs1799963 variant but the conferred genetic risk was comparable with the rs6025 and rs1799963 variants.
Subject headings and genre
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Lind-Halldén, ChristinaKristianstad University,Faculty of Natural Science,Fakulteten för naturvetenskap(Swepub:lu)klke-cha
(author)
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Halldén, ChristerKristianstad University(Swepub:lu)klke-cha
(author)
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Elf, JohanLund University,Lunds universitet,Klinisk koagulationsmedicin, Malmö,Forskargrupper vid Lunds universitet,Clinical Coagulation, Malmö,Lund University Research Groups(Swepub:lu)med-jne
(author)
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Svensson, Peter J.Lund University,Lunds universitet,Klinisk koagulationsmedicin, Malmö,Forskargrupper vid Lunds universitet,Clinical Coagulation, Malmö,Lund University Research Groups(Swepub:lu)medf-psv
(author)
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Dahlbäck, BjörnLund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups(Swepub:lu)klke-bda
(author)
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Engström, GunnarLund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups(Swepub:lu)smi-gen
(author)
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Melander, OlleLund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups(Swepub:lu)endo-ome
(author)
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Baras, ArisRegeneron Pharmaceuticals, Inc.,Regeneron Pharmaceuticals, Inc.,Regeneron Pharmaceuticals, Inc.
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Lotta, Luca A.Regeneron Pharmaceuticals, Inc.,Regeneron Pharmaceuticals, Inc.,Regeneron Pharmaceuticals, Inc.
(author)
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Zöller, BengtLund University,Lunds universitet,Allmänmedicin, kardiovaskulär medicin och genetik,Forskargrupper vid Lunds universitet,Family medicine, cardiovascular medicine and genetics,Lund University Research Groups,Region Skåne(Swepub:lu)medf-bzo
(author)
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Kristianstad UniversityFaculty of Natural Science
(creator_code:org_t)
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Regeneron Genetics Center
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In:Journal of the American Heart Association: Wiley-Blackwell Publishing Ltd11:42047-9980
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