Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/176142
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | Whole-exome sequencing in evaluation of patients with venous thromboembolism |
Autor: | Lee, Eun-Ju; Dykas, Daniel J.; Leavitt, Andrew D.; Camire, Rodney M.; Ebberink, Eduard; García de Frutos, Pablo CSIC ORCID ; Gnanasambandan, Kavitha; Gu, Sean X.; Huntington, James Andrew; Lentz, Steven R.; Mertens, Koen; Parish, Christopher R.; Rezaie, Alireza R.; Sayeski, Peter P.; Cromwell, Caroline; Bar, Noffar; Halene, Stephanie; Neparidze, Natalia; Parker, Terri L.; Burns, Adrienne J.; Dumont, Anne; Yao, Xiaopan; Ochoa Chaar, Cassius Iyad; Connors, Jean M.; Bale, Allen E.; Lee, Alfred Ian | Fecha de publicación: | 11-jul-2017 | Editor: | American Society of Hematology | Citación: | Blood Advances 1(16): 1224-1237 (2017) | Resumen: | Genetics play a significant role in venous thromboembolism (VTE), yet current clinical laboratory-based testing identifies a known heritable thrombophilia (factor V Leiden, prothrombin gene mutation G20210A, or a deficiency of protein C, protein S, or antithrombin) in only a minority of VTE patients. We hypothesized that a substantial number of VTE patients could have lesser-known thrombophilia mutations. To test this hypothesis, we performed whole-exome sequencing (WES) in 64 patients with VTE, focusing our analysis on a novel 55-gene extended thrombophilia panel that we compiled. Our extended thrombophilia panel identified a probable disease-causing genetic variant or variant of unknown significance in 39 of 64 study patients (60.9%), compared with 6 of 237 control patients without VTE (2.5%) (P < .0001). Clinical laboratory-based thrombophilia testing identified a heritable thrombophilia in only 14 of 54 study patients (25.9%). The majority of WES variants were either associated with thrombosis based on prior reports in the literature or predicted to affect protein structure based on protein modeling performed as part of this study. Variants were found in major thrombophilia genes, various SERPIN genes, and highly conserved areas of other genes with established or potential roles in coagulation or fibrinolysis. Ten patients (15.6%) had >1 variant. Sanger sequencing performed in family members of 4 study patients with and without VTE showed generally concordant results with thrombotic history. WES and extended thrombophilia testing are promising tools for improving our understanding of VTE pathogenesis and identifying inherited thrombophilias. | Versión del editor: | https://doi.org/10.1182/bloodadvances.2017005249 | URI: | http://hdl.handle.net/10261/176142 | DOI: | 10.1182/bloodadvances.2017005249 | E-ISSN: | 2473-9529 |
Aparece en las colecciones: | (IIBB) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
Whole-exome_García de Frutos.pdf | 2,37 MB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
21
checked on 05-mar-2024
SCOPUSTM
Citations
48
checked on 25-mar-2024
WEB OF SCIENCETM
Citations
38
checked on 29-feb-2024
Page view(s)
225
checked on 26-mar-2024
Download(s)
507
checked on 26-mar-2024
Google ScholarTM
Check
Altmetric
Altmetric
Artículos relacionados:
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.