Inflammasome genes polymorphisms are associated with progression to mechanical ventilation and death in a cohort of hospitalized COVID-19 patients in a reference hospital in Rio de Janeiro, Brazil

Neira-Goulart, Milena; Sá, Nathalia Beatriz Ramos de; Ribeiro-Alves, Marcelo; Perazzo, Hugo; Geraldo, Kim Mattos; Ribeiro, Maria Pia Diniz; Cardoso, Sandra Wagner; Grinsztejn, Beatriz; Veloso, Valdiléa G.; Gomes, Larissa Rodrigues; Cazote, Andressa da Silva; Almeida, Dalziza Victalina de; Giacoia-Gripp, Carmem Beatriz Wagner; Côrtes, Fernanda Heloise; Morgado, Mariza G.

doi:10.1016/j.gene.2023.147325

Cited by 4 publications

(4 citation statements)

References 55 publications

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“…In the current study, we found no association of CARD8, IL1B, and NFKB1 polymorphisms with the poor outcome of our cohort of COVID-19 patients. This study confirms previous reports describing the same results in relation to rs6509365 CARD8 [20], rs1143634 IL1B [20,21], rs16944 IL1B [24], and rs28362491 NFKB1 [27]. Regarding IL18 and CASP1, to the best of our knowledge, a relationship of their polymorphisms with COVID-19 exacerbation has not been previously reported.…”

Section: Discussionsupporting

confidence: 91%

“…It is important to mention that the previous results in the literature are controversial since other works have shown that some of the genetic variants that were studied in this work might modulate inflammasome activation, thus contributing to a worse or better prognosis in disease progression to severe outcomes. In particular, a relationship between COVID-19 aggravation and rs10754558 NLRP3 [21,30], rs6509365 CARD8 [21], rs2043211 CARD8 [26], rs16944 IL1B [31], and rs755622 MIF [32] have been described. It is reasonable to think that both the difference in ethnicity and criteria for stratifying patients according to disease severity between studies are contributing to this apparent discrepancy in the data.…”

Section: Discussionmentioning

confidence: 99%

“…Given the evident participation of the inflammasome in SARS-CoV-2 infection, it is plausible to think that inflammasome-related genes could provide new perspectives for illuminating the pathological processes potentially influencing the worsening and increased mortality of patients with this devastating disease. In fact, previous reports have suggested that the genetic variants related to the inflammasome are involved in the susceptibility or progression of COVID-19 disease [19][20][21][22][23][24][25]. However, our understanding of the complex interconnection between SARS-CoV-2 and inflammasome-related genes is still incomplete.…”

Section: Introductionmentioning

confidence: 99%

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Inflammasome-Related Genetic Polymorphisms as Severity Biomarkers of COVID-19

Pulito-Cueto,

Sebastián Mora-Gil,

Ferrer-Pargada

et al. 2024

IJMS

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The most critical forms of coronavirus disease 2019 (COVID-19) are associated with excessive activation of the inflammasome. Despite the COVID-19 impact on public health, we still do not fully understand the mechanisms by which the inflammatory response influences disease prognosis. Accordingly, we aimed to elucidate the role of polymorphisms in the key genes of the formation and signaling of the inflammasome as biomarkers of COVID-19 severity. For this purpose, a large and well-defined cohort of 377 COVID-19 patients with mild (n = 72), moderate (n = 84), severe (n = 100), and critical (n = 121) infections were included. A total of 24 polymorphisms located in inflammasome-related genes (NLRP3, NLRC4, NLRP1, CARD8, CASP1, IL1B, IL18, NFKB1, ATG16L1, and MIF) were genotyped in all of the patients and in the 192 healthy controls (HCs) (who were without COVID-19 at the time of and before the study) by RT-qPCR. Our results showed that patients with mild, moderate, severe, and critical COVID-19 presented similar allelic and genotypic distribution in all the variants studied. No statistically significant differences in the haplotypic distribution of NLRP3, NLRC4, NLRP1, CARD8, CASP1, IL1B, and ATG16L1 were observed between COVID-19 patients, who were stratified by disease severity. Each stratified group of patients presented a similar genetic distribution to the HCs. In conclusion, our results suggest that the inflammasome polymorphisms studied are not associated with the worsening of COVID-19.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Inflammasome-Related Genetic Polymorphisms as Severity Biomarkers of COVID-19

Pulito-Cueto,

Sebastián Mora-Gil,

Ferrer-Pargada

et al. 2024

IJMS

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“…Interleukins are involved in pyroptosis and inflammasome pathway regulation via transcriptional and translational mechanisms, balancing the normal activity of inflammation, while undue activation influences inflammatory, metabolic, and oncogenic disbalance [ 30 ]. The rs1143634 heterozygous genotype was reported to be positively associated with the modulation of inflammasomes, which probably has a protective effect on lung fibroblasts [ 31 ] and was found to be associated with dermal fibrosis, which explains why chronic collagen overexpression might be involved in skin aging pathogenesis [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

Genetical Signature—An Example of a Personalized Skin Aging Investigation with Possible Implementation in Clinical Practice

Sepetiene,

Patamsyte,

Valiukevicius

et al. 2023

JPM

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We conducted a research study to create the groundwork for personalized solutions within a skin aging segment. This test utilizes genetic and general laboratory data to predict individual susceptibility to weak skin characteristics, leveraging the research on genetic polymorphisms related to skin functional properties. A cross-sectional study was conducted in a collaboration between the Private Clinic Medicina Practica Laboratory (Vilnius, Lithuania) and the Public Institution Lithuanian University of Health Sciences (Kaunas, Lithuania). A total of 370 participants agreed to participate in the project. The median age of the respondents was 40, with a range of 19 to 74 years. After the literature search, we selected 15 polymorphisms of the genes related to skin aging, which were subsequently categorized in terms of different skin functions: SOD2 (rs4880), GPX1 (rs1050450), NQO1 (rs1800566), CAT (rs1001179), TYR (rs1126809), SLC45A2 (rs26722), SLC45A2 (rs16891982), MMP1 (rs1799750), ELN (rs7787362), COL1A1 (rs1800012), AHR (rs2066853), IL6 (rs1800795), IL1Beta (rs1143634), TNF-α (rs1800629), and AQP3 (rs17553719). RT genotyping, blood count, and immunochemistry results were analyzed using statistical methods. The obtained results show significant associations between genotyping models and routine blood screens. These findings demonstrate the personalized medicine approach for the aging segment and further add to the growing literature. Further investigation is warranted to fully understand the complex interplay between genetic factors, environmental influences, and skin aging.

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