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Article ; Online: Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants

Margherita Baldassarri / Francesca Fava / Chiara Fallerini / Sergio Daga / Elisa Benetti / Kristina Zguro / Sara Amitrano / Floriana Valentino / Gabriella Doddato / Annarita Giliberti / Laura Di Sarno / Maria Palmieri / Miriam Lucia Carriero / Diana Alaverdian / Giada Beligni / Nicola Iuso / Francesco Castelli / Eugenia Quiros-Roldan / Mario Umberto Mondelli /
Rosalba Miceli / Elisa Frullanti / Simone Furini / Francesca Mari / Alessandra Renieri / Chiara Gabbi / on behalf of the GEN-COVID Multicenter Study

Journal of Personalized Medicine, Vol 11, Iss 558, p

2021  Volume 558

Abstract: ... progression. Given that carriers of single cystic fibrosis (CF)-causing variants of the CFTR gene—CF-carriers ... of undergoing severe COVID-19. We implemented a cohort study of 874 individuals diagnosed with COVID-19, during ... The clinical presentation of COVID-19 is extremely heterogeneous, ranging from asymptomatic ...

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.
Keywords CF carrier screening ; host genetics ; COVID-19 ; CFTR ; Medicine ; R
Subject code 610
Language English
Publishing date 2021-06-01T00:00:00Z
Publisher MDPI AG
Document type Article ; Online
Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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