Article
Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 2 Sept 2024
Zhou Wei, Ås Joel, Shore-Lorenti Catherine, Nguyen Hanh H, van de Laarschot Denise M, Sztal-Mazer Shoshana, Grill Vivian, Girgis Christian M, Stricker Bruno H Ch, van der Eerden Bram C J, Thakker Rajesh V, Appelman-Dijkstra Natasha M, Wadelius Mia, Clifton-Bligh Roderick J, Hallberg Pär, Verkerk Annemieke J M H, van Rooij Jeroen G J, Ebeling Peter R, Zillikens M Carola
Abstract excerpt
Several small genetic association studies have been conducted for atypical femur fracture (AFF) without replication of results. We assessed previously implicated and novel genes associated with AFFs in a larger set of unrelated AFF cases using whole exome sequencing (WES). We performed gene-based association analysis on 139 European AFF cases and 196 controls matched for bisphosphonate use. We tested all rare,...
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