Experimental Medicine Centre, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Department of Endocrinology and Metabolism, Third Department of Internal Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
Cent Eur J Public Health. 2023 Dec;31(4):235-239. doi: 10.21101/cejph.a7906.
The acute respiratory syndrome, known as COVID-19, is characterised by high morbidity and increased mortality. Genetic factors may partially explain the differences in susceptibility to and severity of COVID-19.
We have analysed common functional polymorphisms within the OAS1 (rs4767027), TMPRSS6 (rs855791), DPP4 (rs3788979), and ZNF335 (rs3848719) genes in SARS-CoV-2 positive subjects (n = 521, different disease severity) and in population controls (n = 2,559 subjects, COVID-19 status unknown).
Neither DPP4 nor ZNF335 were associated with disease susceptibility or severity in the Czech population in any of the models used for calculation. T allele carriers of the OAS1 polymorphism seem to be protective against symptomatic COVID-19 (p = 0.002 calculated for trend; asymptomatic, symptomatic, hospitalised). Similarly, within the TMPRSS6, minor TT homozygotes associated with lower plasma Fe concentrations were underrepresented in the overall patient group (p = 0.044; OR = 0.77, 95% CI: 0.59-0.99), and the difference was mainly driven by the severe COVID-19 subjects. In general, risky homozygotes of these two polymorphisms were less frequent than expected in the group of hospitalised COVID-19 survivors.
Common variants within OAS1 (rs4767027) and TMPRSS6 (rs855791) play some role in COVID-19 pathology in the Czech Caucasian population. Whether the depletion of minor allele carriers of these two variants is associated with increased COVID-19 mortality, needs to be analysed in an external confirmatory study.
已知的急性呼吸综合征，即 COVID-19，具有高发病率和增加的死亡率。遗传因素可能部分解释了对 COVID-19 的易感性和严重程度的差异。
我们分析了 SARS-CoV-2 阳性受试者（n=521，不同疾病严重程度）和人群对照（n=2559 名受试者，COVID-19 状态未知）中 OAS1（rs4767027）、TMPRSS6（rs855791）、DPP4（rs3788979）和 ZNF335（rs3848719）基因中的常见功能多态性。
在我们使用的任何计算模型中，DPP4 或 ZNF335 均与捷克人群的疾病易感性或严重程度无关。OAS1 多态性的 T 等位基因携带者似乎对有症状的 COVID-19（按趋势计算，p=0.002；无症状、有症状、住院）具有保护作用。同样，在 TMPRSS6 中，与较低血浆 Fe 浓度相关的 TT 纯合子在整个患者组中代表性不足（p=0.044；OR=0.77，95%CI：0.59-0.99），且差异主要由严重 COVID-19 患者驱动。一般来说，这两种多态性的高危纯合子在住院 COVID-19 幸存者组中比预期的频率要低。
OAS1（rs4767027）和 TMPRSS6（rs855791）中的常见变异在捷克白种人群的 COVID-19 病理中起一定作用。这两种变体的次要等位基因携带者缺失是否与 COVID-19 死亡率增加有关，需要在外部验证性研究中进行分析。
