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Gain- and Loss-of-F...
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes
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Baldassarri, M (author)
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Zguro, K (author)
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Tomati, V (author)
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Pastorino, C (author)
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Fava, F (author)
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Croci, S (author)
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Bruttini, M (author)
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Picchiotti, N (author)
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Furini, S (author)
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, EN COVID Multictr Study (author)
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Pedemonte, N (author)
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Gabbi, C (author)
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Renieri, A (author)
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Fallerini, C (author)
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- 2022-12-16
- 2022
- English.
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In: Cells. - : MDPI AG. - 2073-4409. ; 11:24
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https://doi.org/10.3...
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Abstract
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- 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. Conversely, CFTR ultra-rare alleles with reduced function are associated with disease severity either alone (dominant disorder) or with another hypomorphic allele in the second chromosome (recessive disorder) with a global residual CFTR activity between 50 to 91%. Furthermore, we characterized novel CFTR complex alleles, including [A238V;F508del], [R74W;D1270N;V201M], [I1027T;F508del], [I506V;D1168G], and simple alleles, including R347C, F1052V, Y625N, I328V, K68E, A309D, A252T, G542*, V562I, R1066H, I506V, I807M, which lead to a reduced CFTR function and thus, to more severe COVID-19. In conclusion, CFTR genetic analysis is an important tool in identifying patients at risk of severe COVID-19.
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- art (subject category)
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Cells
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- By the author/editor
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Baldassarri, M
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Zguro, K
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Tomati, V
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Pastorino, C
-
Fava, F
-
Croci, S
-
show more...
-
Bruttini, M
-
Picchiotti, N
-
Furini, S
-
, EN COVID Multi ...
-
Pedemonte, N
-
Gabbi, C
-
Renieri, A
-
Fallerini, C
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show less...
- Articles in the publication
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Cells
- By the university
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Karolinska Institutet