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对患有重症和非重症新型冠状病毒肺炎(SARS-CoV-2)感染的年轻患者中表达的RNA变体的表征。

Characterization of the expressed RNA variants from young patients with critical and non-critical SARS-CoV-2 infection.

作者信息

Okendo Javan

机构信息

Systems and Chemical Biology Division, Department of Integrative Biomedical Sciences, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Anzio Road Observatory, Cape Town, 7925 South Africa.

出版信息

Egypt J Med Hum Genet. 2022;23(1):115. doi: 10.1186/s43042-022-00327-4. Epub 2022 Aug 3.

Abstract

BACKGROUND

Since the COVID-19 outbreak emerged, severe acute respiratory syndrome coronavirus (SARS-CoV-2) has continuously evolved into variants with underlying mutations associated with increased transmissibility, potential escape from neutralizing antibodies, and disease severity. Although intensive research is ongoing worldwide to understand the emergence of SARS-CoV-2 variants, there is a lack of information on what constitutes the expressed RNA variants in critical and non-critical comorbidity-free young patients. The study sought  to characterize the expressed RNA variants from young patients with critical and non-critical forms of SARS-CoV-2 infection.

METHODOLOGY

The bulk ribonucleic acid (RNA) sequencing data with the identifier GSE172114 were downloaded from the Gene Expression Omnibus (GEO) database. The study participants were divided into critical,  = 46, and non-critical,  = 23. FastQC version 0.11.9 and Cutadapt version 3.7 were used to assess the read quality and perform adapter trimming, respectively. Spliced Transcripts to a Reference (STAR) version 2.7.10a was used to align reads to the human (hg38) reference genome. Genome Analysis Tool Kit (GATK) best practice was followed to call variants using the rnavar pipeline, part of the nf-core pipelines.

RESULTS

Our research demonstrates that critical and non-critical SARS-CoV-2-infected individuals are characterized by a unique set of expressed RNA variants. The expressed gene variants are enriched on the innate immune response, specifically neutrophil-mediated immune response. On the other hand, the expressed gene variants are involved in both innate and cellular immune responses.

CONCLUSION

Deeply phenotyped comorbidity-free young patients with critical and non-critical SARS-CoV-2 infection are characterized by a unique set of expressed RNA variants. The findings in this study can inform the patient classification process in health facilities globally when admitting young patients infected with SARS-CoV-2.

摘要

背景

自新冠疫情爆发以来,严重急性呼吸综合征冠状病毒2(SARS-CoV-2)不断演变成具有潜在突变的变体,这些突变与传播性增加、可能逃避中和抗体以及疾病严重程度有关。尽管全球正在进行深入研究以了解SARS-CoV-2变体的出现,但对于无严重基础疾病的年轻患者中表达的RNA变体的构成缺乏相关信息。该研究旨在对患有重症和非重症SARS-CoV-2感染的年轻患者中表达的RNA变体进行特征分析。

方法

从基因表达综合数据库(GEO)下载标识符为GSE172114的大量核糖核酸(RNA)测序数据。研究参与者分为重症组(n = 46)和非重症组(n = 23)。分别使用FastQC 0.11.9版本和Cutadapt 3.7版本评估读取质量并进行接头修剪。使用STAR 2.7.10a版本将读取序列与人(hg38)参考基因组进行比对。遵循基因组分析工具包(GATK)的最佳实践,使用nf-core管道中的rnavar管道来调用变体。

结果

我们的研究表明,重症和非重症SARS-CoV-2感染个体具有一组独特的表达RNA变体。表达的基因变体在先天免疫反应中富集,特别是中性粒细胞介导的免疫反应。另一方面,表达的基因变体参与先天免疫和细胞免疫反应。

结论

对无基础疾病且具有重症和非重症SARS-CoV-2感染的年轻患者进行深入表型分析发现,他们具有一组独特的表达RNA变体。本研究结果可为全球医疗机构收治感染SARS-CoV-2的年轻患者时的患者分类过程提供参考。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf55/9362069/69cd698aaee2/43042_2022_327_Fig1_HTML.jpg

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