posted on 2024-12-23, 19:01authored byAxel Schmidt, Nicolas Casadei, Fabian Brand, German Demidov, Elaheh Vojgani, Ayda Abolhassani, Rana Aldisi, Guillaume Butler-Laporte, T. Madhusankha Alawathurage, Max Augustin, Robert Bals, Carla Bellinghausen, Marc Moritz Berger, Michael Bitzer, Christian Bode, Jannik Boos, Thorsten Brenner, Oliver A. Cornely, Thomas Eggermann, Johanna Erber, Torsten Feldt, Christian Fuchsberger, Julien Gagneur, Siri Göpel, Tobias Haack, Helene Häberle, Frank Hanses, Julia Heggemann, Ute Hehr, Johannes C. Hellmuth, Christian Herr, Anke Hinney, Per Hoffmann, Thomas Illig, Björn-Erik Ole Jensen, Verena Keitel, Sarah Kim-Hellmuth, Philipp Koehler, Ingo Kurth, Anna-Lisa Lanz, Eicke Latz, Clara Lehmann, Tom Luedde, Carlo Maj, Michael Mian, Abigail Miller, Maximilian Muenchhoff, Isabell Pink, Ulrike Protzer, Hana Rohn, Jan Rybniker, Federica Scaggiante, Anna Schaffeldt, Clemens Scherer, Maximilian Schieck, Susanne V. Schmidt, Philipp Schommers, Christoph D. Spinner, Maria J. G. T. Vehreschild, Thirumalaisamy P. Velavan, Sonja Volland, Sibylle Wilfling, Christof Winter, J. Brent Richards, André Heimbach, Kerstin Becker, Stephan Ossowski, Joachim L. Schultze, Peter Nürnberg, Markus M. Nöthen, Susanne Motameny, Michael Nothnagel, Olaf Riess, Eva C. Schulte, Kerstin U. Ludwig
<p>(A) Individuals in the DeCOI cohort are classified into three phenotypes based on WHO definition. In addition, the cohort was subsetted to an unrelated cohort of the European population (DeCOI<sub>EUR</sub>) for association analyses. Based on the phenotypes, case-control definitions were established within DeCOI<sub>EUR</sub>. (B) Composition of the DeCOI cohort according to sex (inner circle), phenotype (color coded, middle circle), and population (outer circle). Shaded intervals in the outer circle represent non-European individuals. (C) Age distribution of individuals from the DeCOI cohort (n = 1,220) and the European subcohort (DeCOI<sub>EUR</sub>; n = 1,017), as stratified according to severity (color coded). In both subcohorts, the average age increases with disease course severity. Numbers indicate individuals in the respective group. (D) Phenotype distribution of individuals harboring ClinVar-annotated variants, as grouped according to disorder class. Autosomal recessive patterns of inheritance (AR/likely compound-heterozygous (CH), n = 6 diseases in six individuals) are displayed in the upper panel, and autosomal dominant inheritance patterns (AD, n = 79 diseases in 77 individuals) are displayed in the lower panel.</p>