The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease

Laura Martin-Fernandez, Pascual Marco, Irene Corrales, Raquel Pérez, Lorena Ramírez, Sonia López, Francisco Vidal, José Manuel Soria

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5 Citations (Scopus)

Abstract

© 2016 The Author(s). 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.
Original languageEnglish
Article number39255
JournalScientific Reports
Volume6
DOIs
Publication statusPublished - 15 Dec 2016

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    Martin-Fernandez, L., Marco, P., Corrales, I., Pérez, R., Ramírez, L., López, S., Vidal, F., & Soria, J. M. (2016). The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease. Scientific Reports, 6, [39255]. https://doi.org/10.1038/srep39255