Koniari Eleni, Hatziagapiou Kyriaki, Nikola Alexandra Olti, Georgoulia Konstantina, Marinakis Nikolaos, Bakakos Petros, Athanasopoulou Athanasia, Koromilias Athanasios, Rovina Nikoletta, Efthymiou Vasiliki, Papakonstantinou Eleni, Vlachakis Dimitrios, Mavrikou Sophia, Koutsoukou Antonia, Traeger-Synodinos Joanne, Chrousos George P
University Research Institute of Maternal and Child Health and Precision Medicine and UNESCO Chair on Adolescent Health Care, National and Kapodistrian University of Athens, 11527 Athens, Greece.
First Department of Pediatrics, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.
Biomed Rep. 2024 Sep 25;21(6):176. doi: 10.3892/br.2024.1864. eCollection 2024 Dec.
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 <0.01. In the COVID-19 group with severe symptoms, the variant c.786G>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.
流行病学研究报告了多种心血管疾病与2019冠状病毒病（COVID-19）之间的关联，但因果关系仍有待确定。具体的遗传因素以及它们能够解释易感性或严重程度差异的程度在很大程度上尚不清楚。本研究旨在评估32种心脏代谢特征与COVID-19之间的联系。共招募了60名参与者，他们被分为以下4组：无COVID-19或任何其他潜在病理状况的对照组；患有某种形式血脂异常且易患动脉粥样硬化疾病的患者组；症状轻微或无症状的COVID-19组；在希腊雅典索蒂里亚医院重症监护病房住院的有严重症状的COVID-19组。记录了人口统计学、临床和实验室数据，并分离了遗传物质，随后使用定制的下一代测序面板对与血脂异常相关的基因进行同步分析。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，其主要等位基因频率（Maf）<0.01。在有严重症状的COVID-19组中，在编码上皮钠通道ENaCβ亚基的SCNN1B基因中检测到变异c.786G>A:p.T262T，Maf<0.01。在对照组或血脂异常组中均未检测到这两种罕见变异。总之，当前研究表明ENaC变异可能与COVID-19的遗传易感性相关，支持了COVID-19发病和死亡的风险及保护性遗传因素的理论基础。
