Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors

Autor: Florian, Thibord, Derek, Klarin, Jennifer A, Brody, Ming-Huei, Chen, Michael G, Levin, Daniel I, Chasman, Ellen L, Goode, Kristian, Hveem, Maris, Teder-Laving, Angel, Martinez-Perez, Dylan, Aïssi, Delphine, Daian-Bacq, Kaoru, Ito, Pradeep, Natarajan, Pamela L, Lutsey, Girish N, Nadkarni, Paul S, de Vries, Gabriel, Cuellar-Partida, Brooke N, Wolford, Jack W, Pattee, Charles, Kooperberg, Sigrid K, Braekkan, Ruifang, Li-Gao, Noemie, Saut, Corriene, Sept, Marine, Germain, Renae L, Judy, Kerri L, Wiggins, Darae, Ko, Christopher J, O'Donnell, Kent D, Taylor, Franco, Giulianini, Mariza, De Andrade, Therese H, Nøst, Anne, Boland, Jean-Philippe, Empana, Satoshi, Koyama, Thomas, Gilliland, Ron, Do, Jennifer E, Huffman, Xin, Wang, Wei, Zhou, Jose, Manuel Soria, Juan, Carlos Souto, Nathan, Pankratz, Jeffery, Haessler, Kristian, Hindberg, Frits R, Rosendaal, Constance, Turman, Robert, Olaso, Rachel L, Kember, Traci M, Bartz, Julie A, Lynch, Susan R, Heckbert, Sebastian M, Armasu, Ben, Brumpton, David M, Smadja, Xavier, Jouven, Issei, Komuro, Katharine R, Clapham, Ruth J F, Loos, Cristen J, Willer, Maria, Sabater-Lleal, James S, Pankow, Alexander P, Reiner, Vania M, Morelli, Paul M, Ridker, Astrid van Hylckama, Vlieg, Jean-François, Deleuze, Peter, Kraft, Daniel J, Rader, Kyung, Min Lee, Bruce M, Psaty, Anne, Heidi Skogholt, Joseph, Emmerich, Pierre, Suchon, Stephen S, Rich, Ha My T, Vy, Weihong, Tang, Rebecca D, Jackson, John-Bjarne, Hansen, Pierre-Emmanuel, Morange, Christopher, Kabrhel, David-Alexandre, Trégouët, Scott M, Damrauer, Andrew D, Johnson, Nicholas L, Smith

Publikováno v: Circulation
Circulation, 2022, 146 (16), ⟨10.1161/CIRCULATIONAHA.122.059675⟩
CIRCULATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Background: Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30 000 VTE cases and identified up to 40 geneti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386371a640cbbdf582ab7affdb48ca95
https://doi.org/10.1161/circulationaha.122.059675

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

Autor: Paul Saultier, Léa Vidal, Matthias Canault, Denis Bernot, Céline Falaise, Catherine Pouymayou, Jean-Claude Bordet, Noémie Saut, Agathe Rostan, Véronique Baccini, Franck Peiretti, Marie Favier, Pauline Lucca, Jean-François Deleuze, Robert Olaso, Anne Boland, Pierre Emmanuel Morange, Christian Gachet, Fabrice Malergue, Sixtine Fauré, Anita Eckly, David-Alexandre Trégouët, Marjorie Poggi, Marie-Christine Alessi

Publikováno v: Haematologica, Vol 102, Iss 6 (2017)

Congenital macrothrombocytopenia is a family of rare diseases, of which a significant fraction remains to be genetically characterized. To analyze cases of unexplained thrombocytopenia, 27 individuals from a patient cohort of the Bleeding and Thrombo

Externí odkaz: https://doaj.org/article/76deb145087e480181da79022f102298

Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.

Autor: Marine Germain, Noémie Saut, Tiphaine Oudot-Mellakh, Luc Letenneur, Anne-Marie Dupuy, Marion Bertrand, Marie-Christine Alessi, Jean-Charles Lambert, Diana Zelenika, Joseph Emmerich, Laurence Tiret, Francois Cambien, Mark Lathrop, Philippe Amouyel, Pierre-Emmanuel Morange, David-Alexandre Trégouët

Publikováno v: PLoS ONE, Vol 7, Iss 6, p e38538 (2012)

By applying an imputation strategy based on the 1000 Genomes project to two genome-wide association studies (GWAS), we detected a susceptibility locus for venous thrombosis on chromosome 11p11.2 that was missed by previous GWAS analyses that had been

Externí odkaz: https://doaj.org/article/351ad8ce15a94aee90c07ac3d787e64f