Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations

Mbarek, Hamdi; Cocca, Massimiliano; Al-Sarraj, Yasser; Saad, Chadi; Mezzavilla, Massimo; Al‐Muftah, Wadha; Cocciadiferro, Dario; Novelli, Antonio; Quinti, Isabella; Altawashi, Azza; Salvaggio, Salvino; Althani, Asma; Novelli, Giuseppe; Ismail, Said I.

doi:10.3390/genes12111842

Cited by 3 publications

(2 citation statements)

References 49 publications

(51 reference statements)

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“…(rs113420705), and DPP9 (rs2277732) 31 , nor the variants in TLR3, TLR4, TLR7, TLR8 and TLR9 previously associated with prognosis and susceptibility to COVID-19 infection 32 , but we have detected ultra-rare variants (MAF < 0.01%) in three genes related to immune response (MUC5AC, ABCA7, FLNA), previously linked to the COVID-19 host response to different degrees 33 .…”

Section: Genetic Variants Associated With Sars-cov-2 Severitymentioning

confidence: 51%

“…In our study, we did not nd any of the well-described variants in ACE1, ACE2, IFNAR2, TYK2, OAS1, OAS3, CD40, FCGR2A, CASP3, DPP9, TLR2, TLR3, TLR4, TLR7, TLR8, and TLR9 associated with prognosis and susceptibility to COVID-19 infection [31][32][33] , but we have detected known mutations in genes related to cardiovascular disease (SCN5A, LDLR, DSG2), primary ciliary dyskinesia (DNAH5, DNAH, CCDC103), cystic brosis (CFTR), DNA damage repair response (CHEK2), coagulation (F7, F11, G6PD, PROC), primary immune disorder (TNFRSF1A, COL7A1, LZTR1, CASP10), hemoglobin subunit β (HBB), and other genes (COL9A3, MUC5B), associated with severe COVID-19. We have detected ultra-rare variants (MAF < 0.01%) in immune response-related genes, MUC5AC, ABCA7, FLNA, already associated with the host response to COVID-19 33 .…”

Section: Genetic Variants Associated With Sars-cov-2 Severitymentioning

confidence: 99%

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Rare host variants in ciliary expressed genes contribute to COVID-19 severity in Bulgarian patients

Kamenarova,

Kachakova-Yordanova,

Baymakova

et al. 2024

Preprint

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Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), a pneumonia with extremely heterogeneous clinical presentation, ranging from asymptomatic to severely ill patients. Previous studies have reported links between the presence of host genetic variants and the outcome of the COVID-19 infection. In our study, we used whole exome sequencing in a cohort of 444 SARS-CoV-2 patients, admitted to hospital in the period October-2020-April-2022, to search for associations between rare pathogenic/potentially pathogenic variants and COVID-19 progression. We used gene prioritization-based analysis in genes that have been reported by host genetic studies. Although we did not identify correlation between the presence of rare pathogenic variants and COVID-19 outcome, in critically ill patients we detected known mutations in a number of genes associated with severe disease related to cardiovascular disease, primary ciliary dyskinesia, cystic fibrosis, DNA damage repair response, coagulation, primary immune disorder, hemoglobin subunit β, and others. Additionally, we report 93 novel pathogenic variants found in severely infected patients who required intubation or died. A network analysis showed main component, consisting of 13 highly interconnected genes related to epithelial cilium. In conclusion, we have detected rare pathogenic host variants that may have influenced the COVID-19 outcome in Bulgarian patients.

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Section: Genetic Variants Associated With Sars-cov-2 Severitymentioning

confidence: 51%