Soltani Rezaiezadeh Javad, Lord Javad Safdari, Yekaninejad Mir Saeed, Izadi Pantea
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences and Health Services, Tehran, Islamic Republic of Iran.
Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences and Health Services, Tehran, Islamic Republic of Iran.
Hum Gene (Amst). 2022 Dec;34:201099. doi: 10.1016/j.humgen.2022.201099. Epub 2022 Aug 10.
Since the beginning of the COVID-19 pandemic, researchers have tried to find the reason behind the variety of the symptoms and disease severity among patients. It seems that genetic background may contribute in severity of this infection. The renin-angiotensin system (RAS) is involved in the pathogenesis of COVID-19. An Insertion/Deletion (I/D) polymorphism in the ACE1 gene may explain the genetic risk for disease severity.
We genotyped 251 COVID-19 patients: 151 patients with mild or asymptomatic disease compared with 100 patients with severe to critical illness (without any comorbidities for the disease severity).
There was a significant association between the ACE1 DD genotype and disease severity ( = 1 × 10; OR = 2.004, 95%CI = 1.147-3.499) and our results showed that it was inherited under recessive or codominant inheritance patterns. Also, the I allele showed a protective role against the severe form of COVID-19 disease ( = 1 × 10).
We concluded that ACE1 DD genotype can predict the risk of severe form of COVID-19 infection in the absence of known comorbidities as disease severity risk factors. Further studies with larger sample sizes in other populations are still needed to clarify the role of ACE I/D polymorphism in SARS-CoV-2 infection severity.
自新冠疫情开始以来,研究人员一直试图找出患者出现各种症状及疾病严重程度不同的原因。遗传背景似乎可能对这种感染的严重程度产生影响。肾素-血管紧张素系统(RAS)参与了新冠病毒疾病的发病机制。血管紧张素转换酶1(ACE1)基因中的插入/缺失(I/D)多态性可能解释疾病严重程度的遗传风险。
我们对251例新冠患者进行了基因分型:151例轻症或无症状患者与100例重症至危重症患者(疾病严重程度方面无任何合并症)进行对比。
ACE1基因DD基因型与疾病严重程度之间存在显著关联(P = 1×10;比值比[OR]=2.004,95%置信区间[CI]=1.147 - 3.499),我们的结果表明其以隐性或共显性遗传模式遗传。此外,I等位基因对新冠严重型疾病表现出保护作用(P = 1×10)。
我们得出结论,在不存在作为疾病严重程度风险因素的已知合并症的情况下,ACE1基因DD基因型可预测新冠感染严重型的风险。仍需要在其他人群中进行更大样本量的进一步研究,以阐明ACE I/D多态性在新冠病毒感染严重程度中的作用。