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ENaC gene variants and their involvement in Covid‑19 severity

机译:ENaC 基因变异及其在 Covid-19 严重程度中的作用

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摘要

Epidemiological studies report the association of diverse cardiovascular conditions with coronavirus disease 2019 (COVID-19), but the causality has remained to be established. Specific genetic factors and the extent to which they can explain variation in susceptibility or severity are largely elusive. The present study aimed to evaluate the link between 32 cardio-metabolic traits and COVID-19. A total of 60 participants were enrolled, who were categorized into the following 4 groups: A control group with no COVID-19 or any other underlying pathologies, a group of patients with a certain form of dyslipidemia and predisposition to atherosclerotic disease, a COVID-19 group with mild or no symptoms and a COVID-19 group with severe symptomatology hospitalized at the Intensive Care Unit of Sotiria Hospital (Athens, Greece). Demographic, clinical and laboratory data were recorded and genetic material was isolated, followed by simultaneous analysis of the genes related to dyslipidemia using a custom-made next-generation sequencing panel. In the COVID-19 group with mild or absent symptoms, the variant c.112C>T:p.P38S was detected in the sodium channel epithelial 1 subunit α (SCNN1A) gene, with a major allele frequency (Maf) of A:p.T262T was detected in the SCNN1B gene, which encodes for the β-subunit of the epithelial sodium channel ENaC, with a Maf <0.01. None of the two rare variants were detected in the control or dyslipidemia groups. In conclusion, the current study suggests that ENaC variants are likely associated with genetic susceptibility to COVID-19, supporting the rationale for the risk and protective genetic factors for the morbidity and mortality of COVID-19.
机译:流行病学研究报告称,多种心血管疾病与 2019 冠状病毒病 (COVID-19) 有关,但因果关系仍有待确定。特定的遗传因素及其在多大程度上可以解释易感性或严重程度的差异在很大程度上是难以捉摸的。本研究旨在评估 32 种心脏代谢特征与 COVID-19 之间的联系。共有 60 名参与者入组,他们被分为以下 4 组:没有 COVID-19 或任何其他潜在病症的对照组,一组患有某种形式的血脂异常和动脉粥样硬化疾病易感性的患者,一个症状轻微或没有症状的 COVID-19 组和在 Sotiria 医院重症监护病房住院的 COVID-19 组(雅典, 希腊)。记录人口统计学、临床和实验室数据并分离遗传物质,然后使用定制的下一代测序面板同时分析与血脂异常相关的基因。在症状轻微或无症状的 COVID-19 组中,在钠通道上皮 1 亚基 α (SCNN1A) 基因中检测到变异 c.112C>T:p.P38S,主等位基因频率 (Maf) 为 A:p.T262T,该基因编码上皮钠通道 ENaC 的 β 亚基,Maf <0.01。在对照组或血脂异常组中未检测到两种罕见变异。总之,目前的研究表明,ENaC 变异可能与 COVID-19 的遗传易感性有关,这支持了 COVID-19 发病率和死亡率的风险和保护性遗传因素的基本原理。

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