Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.
Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Ghent, Belgium.
Adv Exp Med Biol. 2021;1318:109-118. doi: 10.1007/978-3-030-63761-3_7.
The outbreak of the COVID-19 pandemic shows a marked geographical variation in its prevalence and mortality. The question arises if the host genetic variation may (partly) affect the prevalence and mortality of COVID-19. We postulated that the geographical variation of human polymorphisms might partly explain the variable prevalence of the infection. We investigated some candidate genes that have the potential to play a role in the immune defense against COVID-19: complement component 3 (C3), galactoside 2-alpha-L-fucosyltransferase 2 (FUT2), haptoglobin (Hp), vitamin D binding protein (DBP), human homeostatic iron regulator protein (HFE), cystic fibrosis transmembrane conductance regulator (CFTR), and angiotensin-converting enzyme 1 (ACE1). In a univariate approach, ACE1 D/I, C3, CFTR, and HFE polymorphisms correlated significantly with COVID-19 prevalence/mortality, whereas Hp and FUT2 polymorphism did not show any significant correlations. In a multivariate analysis, only ACE1 D/I and C3 polymorphisms were determinants for COVID-19 prevalence/mortality. The other polymorphisms (CFTR, DBP, FUT2, HFE, and Hp) did not correlate with COVID-19 prevalence/mortality. Whereas ACE1 D/I polymorphism shows functional links with ACE2 (which is the receptor for the virus) in COVID-19, C3 can act as a critical step in the virus-induced inflammation. Our findings plead against a bystander role of the polymorphisms as a marker for historical migrations, which comigrate with causal genes involved in COVID-19 infection. Further studies are required to assess the clinical outcome of COVID-19 in C3S and ACE1 D allele carriers and to study the role of C3 and ACE1 D/I polymorphisms in COVID-19 and their potential effects on treatment response.
新冠疫情的爆发在其流行和死亡率方面表现出明显的地域差异。人们不禁会问,宿主遗传变异是否(部分)会影响新冠疫情的流行和死亡率。我们推测,人类多态性的地域差异可能部分解释了感染的不同流行率。我们研究了一些候选基因,这些基因有可能在对抗新冠病毒的免疫防御中发挥作用:补体成分 3(C3)、半乳糖苷 2-α-L-岩藻糖基转移酶 2(FUT2)、触珠蛋白(Hp)、维生素 D 结合蛋白(DBP)、人类稳态铁调节蛋白(HFE)、囊性纤维化跨膜电导调节因子(CFTR)和血管紧张素转换酶 1(ACE1)。在单变量分析中,ACE1 D/I、C3、CFTR 和 HFE 多态性与新冠疫情的流行/死亡率显著相关,而 Hp 和 FUT2 多态性则没有显示出任何显著相关性。在多变量分析中,只有 ACE1 D/I 和 C3 多态性是新冠疫情流行/死亡率的决定因素。其他多态性(CFTR、DBP、FUT2、HFE 和 Hp)与新冠疫情的流行/死亡率无关。虽然 ACE1 D/I 多态性与 ACE2(病毒的受体)在新冠病毒中的功能相关,但 C3 可以作为病毒诱导炎症的关键步骤。我们的发现反对这些多态性作为与新冠病毒感染相关的因果基因共同迁移的历史迁移标记的旁观者作用。需要进一步的研究来评估 C3S 和 ACE1 D 等位基因携带者的新冠临床结局,并研究 C3 和 ACE1 D/I 多态性在新冠中的作用及其对治疗反应的潜在影响。