RESUMEN
OBJECTIVE AND DESIGN: The heterogeneity of response to SARS-CoV-2 infection is directly linked to the individual genetic background. Genetic variants of inflammasome-related genes have been pointed as risk factors for several inflammatory sterile and infectious disease. In the group of inflammasome receptors, NLRP1 stands out as a good novel candidate as severity factor for COVID-19 disease. METHODS: To address this question, we performed an association study of NLRP1, DPP9, CARD8, IL1B, and IL18 single nucleotide variants (SNVs) in a cohort of 945 COVID-19 patients. RESULTS: The NLRP1 p.Leu155His in the linker region, target of viral protease, was significantly associated to COVID-19 severity, which could contribute to the excessive cytokine release reported in severe cases. CONCLUSION: Inflammasome genetic background contributes to individual response to SARS-CoV-2.
Asunto(s)
COVID-19 , Inflamasomas , Humanos , Inflamasomas/genética , Inflamasomas/metabolismo , Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas Adaptadoras Transductoras de Señales/metabolismo , COVID-19/genética , Proteínas NLR/genética , SARS-CoV-2/metabolismo , Proteínas de Neoplasias/genética , Proteínas Adaptadoras de Señalización CARD/genéticaRESUMEN
ABSTRACT Introduction: Candida albicans is the most common etiologic agent of fungal vaginitis. These yeasts produce secreted aspartyl proteinases encoded by a family of 10 genes (SAP1-10). Objective: The purpose of this study was to analyze the presence of genes SAP1-7 in vulvovaginal C. albicans. Materials and method: The study included 26 C. albicans vaginal isolates. Detection of aspartyl proteases genes (SAP1-7) was performed by polymerase chain reaction (PCR). Results: The most frequent gene in C. albicans isolated from colonization was SAP6 (93.33%), and from infection, SAP7 (100%). We observed a statistical difference (p = 0.049) in SAP1 gene frequency between isolates from vulvovaginal colonization and infection. Conclusion: High frequency of SAP genes was observed in vulvovaginal C. albicans. The results suggest SAP1 participation in vulvovaginal candidiasis infection.
RESUMO Introdução: Candida albicans é o principal agente etiológico das vaginites fúngicas. Essas leveduras produzem aspartil proteases secretórias que são codificadas por uma família de 10 genes (SAP1-10). Objetivo: O objetivo deste estudo foi avaliar a presença dos genes SAP1-7 em linhagens vulvovaginais de C. albicans. Materiais e método: O estudo incluiu 26 isolados vaginais de C. albicans. Os genes de aspartil proteases (SAP1-7) foram detectados por reação em cadeia da polimerase (PCR). Resultados: O gene mais frequente em C. albicans isolado de colonização foi SAP6 (93,33%), e de infecção, SAP7 (100%). Foi observada diferença estatística (p = 0,049) na frequência do gene SAP1 entre isolados oriundos de colonização e infecção vulvovaginal. Conclusão: Constatou-se alta frequência dos genes SAP em linhagens vaginais de C. albicans. Os resultados sugerem uma participação de SAP1 no processo infeccioso da candidíase vulvovaginal.
