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| Pàgina inicial > Articles > Articles publicats > The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease |
(Institut d'Investigació Biomèdica Sant Pau) (Hospital Universitari Vall d'Hebron. Institut de Recerca) (Institut d'Investigació Biomèdica Sant Pau) (Hospital Universitari Vall d'Hebron. Institut de Recerca) (Institut d'Investigació Biomèdica Sant Pau)| Data: | 2016 |
| Resum: | Although plasminogen is a key protein in fibrinolysis and several mutations in the plasminogen gene (PLG) have been identified that result in plasminogen deficiency, there are conflicting reports to associate it with the risk of thrombosis. Our aim was to unravel the genetic architecture of PLG in families with plasminogen deficiency and its relationship with spontaneous thrombotic events in these families. A total of 13 individuals from 4 families were recruited. Their genetic risk profile of thromboembolism was characterized using the Thrombo inCode kit. Only one family presented genetic risk of thromboembolism (homozygous carrier of F12 rs1801020 and F13A1 rs5985). The whole PLG was tested using Next Generation Sequencing (NGS) and 5 putative pathogenic mutations were found (after in silico predictions) and associated with plasminogen deficiency. Although we can not find genetic risk factors of thrombosis in 3 of 4 families, even the mutations associated with plasminogen deficiency do not cosegregated with thrombosis, we can not exclude plasminogen deficiency as a susceptibility risk factor for thrombosis, since thrombosis is a multifactorial and complex disease where unknown genetic risk factors, in addition to plasminogen deficiency, within these families may explain the thrombotic tendency. |
| Ajuts: | Instituto de Salud Carlos III PI11/0184 Instituto de Salud Carlos III PI12/01494 Instituto de Salud Carlos III PI14/0582 Instituto de Salud Carlos III RD12/0042/0032 Instituto de Salud Carlos III RD12/0042/0053 Instituto de Salud Carlos III FI12/00322 |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Publicat a: | Scientific reports, Vol. 6 (december 2016) , ISSN 2045-2322 |
