Population study of thrombophilic markers and pharmacogenetic markers of warfarin prevalence in Bosnia and Herzegovina
| العنوان: | Population study of thrombophilic markers and pharmacogenetic markers of warfarin prevalence in Bosnia and Herzegovina |
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| المؤلفون: | Damir Marjanović, Adna Ašić, Ramona Salazar, Wolfgang Höppner, Niels Storm, Dragan Primorac, Serkan Dogan |
| المصدر: | Croatian Medical Journal Volume 60 Issue 3 |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Male, pharmacogenetic markers, Gastroenterology, Thrombophilic markers, 0302 clinical medicine, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics, Gene Frequency, Pregnancy, Medicine, Thrombophilia, 030212 general & internal medicine, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Interna medicina, education.field_of_study, biology, Factor XIII, General Medicine, Middle Aged, Blood Coagulation Factors, Female, Prothrombin, VKORC1, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Population, 03 medical and health sciences, Young Adult, 11th ISABS CONFERENCE, Internal medicine, Vitamin K Epoxide Reductases, thrombophilic markers, warfarin, Plasminogen Activator Inhibitor 1, Factor V Leiden, Humans, education, Allele frequency, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Internal Medicine, Alleles, Methylenetetrahydrofolate Reductase (NADPH2), Cytochrome P-450 CYP2C9, Bosnia and Herzegovina, business.industry, Warfarin, Anticoagulants, Factor V, medicine.disease, Methylenetetrahydrofolate reductase, biology.protein, business, Pharmacogenetics, Biomarkers |
| الوصف: | Aim To investigate the prevalence of common genetic variants that can serve as markers of thrombophilia and warfarin pharmacogenetics in Bosnia and Herzegovina. Methods The study was performed between August and October 2017 on 130 healthy unrelated adult volunteers from Bosnian-Herzegovinian population sample. The prevalence of the following genetic variants was determined: F5 c.1601G>A (factor V Leiden), F2 c.*97G>A (factor II or prothrombin mutation), F13A1 (factor XIII) c.103G>T, MTHFR (methylenetetrahydrofolate reductase) c.665C>T and c.1286A>C, as well as PAI-1 (plasminogen activator inhibitor 1) c.-816A>G and c.-844G>A as markers of thrombophilia risk, and *2 and *3 alleles of CYP2C9 (cytochrome P450 2C9) and five variants of VKORC1 (vitamin K epoxide reductase complex subunit 1) as markers of warfarin pharmacogenetics. DNA was isolated from buccal swabs using salting out method, while genotyping was performed using matrix-assisted laser desorption/ionization-time-offlight mass spectrometry. Results Minor allele frequencies for two main thrombophilia risk factors, F5 c.1601G>A and F2 c.*97G>A were 0.023 and 0.008, respectively. Combined data for the markers of warfarin pharmacogenetics imply that 57.4% study participants can be expected to metabolize warfarin at an extensive, 40.3% at intermediate, and 2.3% at a poor rate. Conclusion This study reports the first extensive population genetic data for thrombophilia and warfarin pharmacogenetic markers in Bosnia and Herzegovina. Allele frequencies of genetic variants are within the general average for European populations, and their presence implies the necessity of introduction of personalized medicine in warfarin-mediated antithrombotic therapy. |
| وصف الملف: | application/pdf |
| اللغة: | Croatian |
| تدمد: | 0353-9504 1332-8166 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7b18db477761808c54dcf1611ee72b0Test https://urn.nsk.hr/urn:nbn:hr:184:188436Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....c7b18db477761808c54dcf1611ee72b0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 03539504 13328166 |
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