Association between development of severe COVID-19 and a polymorphism in the <i>CIAS1</i> gene that codes for an inflammasome component

Imagem de Miniatura
Arquivos
art_TOZETTO-MENDOZA_Association_between_development_of_severe_COVID19_and_a_2023.PDF (866.63 KB)
Citações na Scopus
1
Tipo de produção
article
Data de publicação
2023
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
NATURE PORTFOLIO
Autores
Citação
SCIENTIFIC REPORTS, v.13, n.1, article ID 11252, 5p, 2023
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
An elevated pro-inflammatory cytokine response is associated with severe life-threatening symptoms in individuals with Coronavirus Disease-2019 (COVID). The inflammasome is an intracellular structure responsible for generation of interleukin (IL)-1 & beta; and IL-18. NALP3, a product of the CIAS1 gene, is the rate-limiting component for inflammasome activity. We evaluated if a CIAS1 42 base pair length polymorphism (rs74163773) was associated with severe COVID. DNA from 93 individuals with severe COVID, 38 with mild COVID, and 98 controls were analyzed for this polymorphism. The 12 unit repeat allele is associated with the highest inflammasome activity. Five alleles, corresponding to 6, 7, 9, 12 or 13 repeat units, divided into 12 genotypes were identified. The frequency of the 12 unit repeat allele was 45.3% in those with severe disease as opposed to 30.0% in those with mild disease and 26.0% in controls (p < 0.0001, severe vs. controls). In contrast, the 7 unit repeat allele frequency was 30.1% in controls as opposed to 14.0% and 12.5% in those with severe or mild disease, respectively (p & LE; 0.0017). We conclude that individuals positive for the CIAS1 12 allele may be at elevated risk for development of severe COVID due to an increased level of induced pro-inflammatory cytokine production.
Palavras-chave
URI
https://observatorio.fm.usp.br/handle/OPI/56105
Referências
  1. Manta FSD, 2013, PLOS ONE, V8, DOI 10.1371/journal.pone.0075145
  2. Di Maria E, 2020, HUM GENOMICS, V14, DOI 10.1186/s40246-020-00280-6
  3. Fajgenbaum DC, 2020, NEW ENGL J MED, V383, P2255, DOI 10.1056/NEJMra2026131
  4. Fernandes-Alnemri T, 2007, CELL DEATH DIFFER, V14, P1590, DOI 10.1038/sj.cdd.4402194
  5. Hadad R, 2023, FRONT IMMUNOL, V14, DOI 10.3389/fimmu.2023.1014665
  6. Hu BY, 2021, J MED VIROL, V93, P250, DOI 10.1002/jmv.26232
  7. Huang C, 2020, LANCET, V395, P496, DOI 10.1016/S0140-6736(20)30252-X
  8. Jaeger M, 2016, EUR J CLIN MICROBIOL, V35, P797, DOI 10.1007/s10096-016-2600-5
  9. Jaffe S, 2013, MED HYPOTHESES, V81, P919, DOI 10.1016/j.mehy.2013.08.015
  10. Kummer JA, 2007, J HISTOCHEM CYTOCHEM, V55, P443, DOI 10.1369/jhc.6A7101.2006
  11. Lamkanfi M, 2009, IMMUNOL REV, V227, P95, DOI 10.1111/j.1600-065X.2008.00730.x
  12. Leal FE, 2021, BMJ OPEN, V11, DOI 10.1136/bmjopen-2020-042745
  13. Lev-Sagie A, 2009, AM J OBSTET GYNECOL, V200, DOI 10.1016/j.ajog.2008.10.039
  14. Correa MCM, 2021, J MED VIROL, V93, P5603, DOI 10.1002/jmv.27021
  15. Omi T, 2006, EUR J HUM GENET, V14, P1295, DOI 10.1038/sj.ejhg.5201698
  16. Omi T, 2011, LEGAL MED-TOKYO, V13, P44, DOI 10.1016/j.legalmed.2010.09.004
  17. Parra FC, 2003, P NATL ACAD SCI USA, V100, P177, DOI 10.1073/pnas.0126614100
  18. Phelan AL, 2020, JAMA-J AM MED ASSOC, V323, P709, DOI 10.1001/jama.2020.1097
  19. Pum A, 2021, BIOMOLECULES, V11, DOI 10.3390/biom11010091
  20. Rodrigues TS, 2021, J EXP MED, V218, DOI 10.1084/jem.20201707
  21. Sinha P, 2020, JAMA INTERN MED, V180, P1152, DOI 10.1001/jamainternmed.2020.3313
  22. Sutterwala FS, 2007, J LEUKOCYTE BIOL, V82, P259, DOI 10.1189/jlb.1206755
  23. van der Made CI, 2022, GENOME MED, V14, DOI 10.1186/s13073-022-01100-3

Coleções
Artigos e Materiais de Revistas Científicas - FM/MIP
Artigos e Materiais de Revistas Científicas - COVID-19
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/InCor
Artigos e Materiais de Revistas Científicas - IMT
Artigos e Materiais de Revistas Científicas - LIM/46
Carregar mais