rs112541215 - RUFY4

Magnitude 4.5 · 1 study on file

Reported associations

• Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma. - Brain : a journal of neurology (2021) · Carrera C, Cárcel-Márquez J, Cullell N, Torres-Águila N, Muiño E, Castillo J, Sobrino T, Campos F, Rodríguez-Castro E, Llucià-Carol L, Millán M, Muñoz-Narbona L, López-Cancio E, Bustamante A, Ribó M, Álvarez-Sabín J, Jiménez-Conde J, Roquer J, Giralt-Steinhauer E, Soriano-Tárraga C, Mola-Caminal M, Vives-Bauza C, Navarro RD, Tur S, Obach V, Arenillas JF, Segura T, Serrano-Heras G, Martí-Fàbregas J, Delgado-Mederos R, Freijo-Guerrero MM, Moniche F, Cabezas JA, Castellanos M, Gallego-Fabrega C, González-Sanchez J, Krupinsky J, Strbian D, Tatlisumak T, Thijs V, Lemmens R, Slowik A, Pera J, Kittner S, Cole J, Heitsch L, Ibañez L, Cruchaga C, Lee JM, Montaner J, Fernández-Cadenas I · PubMed 33723576

  Haemorrhagic transformation is a complication of recombinant tissue-plasminogen activator treatment. The most severe form, parenchymal haematoma, can result in neurological deterioration, disability, and death. Our objective was to identify single nucleotide variations associated with a risk of parenchymal haematoma following thrombolytic therapy in patients with acute ischaemic stroke. A fixed-effect genome-wide meta-analysis was performed combining two-stage genome-wide association studies (n = 1904). The discovery stage (three cohorts) comprised 1324 ischaemic stroke individuals, 5.4% of whom had a parenchymal haematoma. Genetic variants yielding a P-value < 0.05 1 × 10-5 were analysed in the validation stage (six cohorts), formed by 580 ischaemic stroke patients with 12.1% haemorr

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