The clinical presentation of COVID-19 is extremely heterogeneous, ranging from asymptomatic to severely ill patients. Thus, host genetic factors may be involved in determining disease presentation and progression. Given that carriers of single cystic fibrosis (CF)-causing variants of the CFTR gene—CF-carriers—are more susceptible to respiratory tract infections, our aim was to determine their likelihood of undergoing severe COVID-19. We implemented a cohort study of 874 individuals diagnosed with COVID-19, during the first pandemic wave in Italy. Whole exome sequencing was performed and validated CF-causing variants were identified. Forty subjects (16 females and 24 males) were found to be CF-carriers. Among mechanically ventilated patients, CF-carriers were more represented (8.7%) and they were significantly (p < 0.05) younger (mean age 51 years) compared to noncarriers (mean age 61.42 years). Furthermore, in the whole cohort, the age of male CF-carriers was lower, compared to noncarriers (p < 0.05). CF-carriers had a relative risk of presenting an abnormal inflammatory response (CRP ≥ 20 mg/dL) of 1.69 (p < 0.05) and their hazard ratio of death at day 14 was 3.10 (p < 0.05) in a multivariate regression model, adjusted for age, sex and comorbidities. In conclusion, CF-carriers are more susceptible to the severe form of COVID-19, showing also higher risk of 14-day death.

Baldassarri, M., Fava, F., Fallerini, C., Daga, S., Benetti, E., Zguro, K., et al. (2021). Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants. JOURNAL OF PERSONALIZED MEDICINE, 11(6), 558 [10.3390/jpm11060558].

Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants

Baldassarri M.;Fava F.;Fallerini C.;Daga S.;Benetti E.;Zguro K.;Amitrano S.;Valentino F.;Doddato G.;Giliberti A.;Di Sarno L.;Palmieri M.;Carriero M. L.;Alaverdian D.;Beligni G.;Iuso N.;Frullanti E.;Furini S.;Mari F.;Renieri A.;
2021-01-01

Abstract

The clinical presentation of COVID-19 is extremely heterogeneous, ranging from asymptomatic to severely ill patients. Thus, host genetic factors may be involved in determining disease presentation and progression. Given that carriers of single cystic fibrosis (CF)-causing variants of the CFTR gene—CF-carriers—are more susceptible to respiratory tract infections, our aim was to determine their likelihood of undergoing severe COVID-19. We implemented a cohort study of 874 individuals diagnosed with COVID-19, during the first pandemic wave in Italy. Whole exome sequencing was performed and validated CF-causing variants were identified. Forty subjects (16 females and 24 males) were found to be CF-carriers. Among mechanically ventilated patients, CF-carriers were more represented (8.7%) and they were significantly (p < 0.05) younger (mean age 51 years) compared to noncarriers (mean age 61.42 years). Furthermore, in the whole cohort, the age of male CF-carriers was lower, compared to noncarriers (p < 0.05). CF-carriers had a relative risk of presenting an abnormal inflammatory response (CRP ≥ 20 mg/dL) of 1.69 (p < 0.05) and their hazard ratio of death at day 14 was 3.10 (p < 0.05) in a multivariate regression model, adjusted for age, sex and comorbidities. In conclusion, CF-carriers are more susceptible to the severe form of COVID-19, showing also higher risk of 14-day death.
2021
Baldassarri, M., Fava, F., Fallerini, C., Daga, S., Benetti, E., Zguro, K., et al. (2021). Severe COVID-19 in hospitalized carriers of single CFTR pathogenic variants. JOURNAL OF PERSONALIZED MEDICINE, 11(6), 558 [10.3390/jpm11060558].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1152086
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