Article
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.
Cells - 16 Dec 2022
Baldassarri Margherita, Zguro Kristina, Tomati Valeria, Pastorino Cristina, Fava Francesca, Croci Susanna, Bruttini Mirella, Picchiotti Nicola, Furini Simone, Pedemonte Nicoletta, Gabbi Chiara, Renieri Alessandra, Fallerini Chiara
Abstract excerpt
Carriers of single pathogenic variants of the CFTR (cystic fibrosis transmembrane conductance regulator) gene have a higher risk of severe COVID-19 and 14-day death. The machine learning post-Mendelian model pinpointed CFTR as a bidirectional modulator of COVID-19 outcomes. Here, we demonstrate that the rare complex allele [G576V;R668C] is associated with a milder disease via a gain-of-function mechanism....
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