乌克兰人群中，tmprss2（rs12329760）多态性而非 ace2（rs4240157）、tmprss11a（rs353163）和 cd147（rs8259）与 COVID-19 的严重程度相关。
Polymorphism of tmprss2 (rs12329760) but not ace2 (rs4240157), tmprss11a (rs353163) and cd147 (rs8259) is associated with the severity of COVID-19 in the Ukrainian population.
机构信息
Poltava State Medical University, Poltava.
Mechnikov Institute of Microbiology and Immunology, Kharkiv.
出版信息
Acta Biomed. 2023 Feb 13;94(1):e2023030. doi: 10.23750/abm.v94i1.13543.
BACKGROUND AND AIM
Angiotensin-converting enzyme 2 (ACE2), transmembrane serine 2 and serine 11A proteases (TMPRSS2, TMPRSS11A), and a cell surface cluster of differentiation 147 (CD147) might be a gene candidate that exerts the susceptibility to and mortality from coronavirus disease 19 (COVID-19). The aim of this study was to investigate the associations between ace2, tmprss2, tmprss11a, and cd147 polymorphic variants and the severity of COVID-19 in the Ukrainian population.
METHODS
The study population consisted of the Ukrainian population with COVID-19: patients without oxygen therapy (n=62), with non-invasive (n=92) and invasive (n=35) oxygen therapy, as well as control subjects (n=92). Allelic polymorphisms of ace2 rs4240157, tmprss2 rs12329760, and tmprss11a rs353163 were determined by real-time PCR, and cd147 rs8259 polymorphism was detected by PCR with subsequent restrictase analysis. We compared investigated polymorphisms distribution with other populations by meta-analysis.
RESULTS
Our study is the first to obtain data about the distribution of investigated gene polymorphisms in the Ukrainian population: tmprss2 rs12329760 - CC 60.9%, CT 35.9%, TT 3.2%; tmprss11a rs353163 - CC 46.7%, CT 40.2%, TT 13.1%; ace2 rs4240157 - CC 7.6%, C 18.5%, CT 22.8%, TT 19.6%, T 31.5%; cd147 rs8259 - TT 60.9%, AT 32.6%, AA 6.5%. This distribution was similar to the Northern, Western and Southern European populations. There was a statistically significant difference in the frequency of tmprss2 polymorphic genotypes CC 57.1%, CT 28.6%, and TT 14.3% (P<0.05) in COVID-19 patients with invasive oxygen therapy in comparison with non-invasive oxygen therapy. This tmprss2 mutation occurs in the scavenger receptor cysteine-rich (SRCR) domain and might be important for protein-protein interaction in a calcium-dependent manner.
CONCLUSIONS
Our study indicated the presence of an association between the tmprss2 rs12329760 polymorphism and the severity of COVID-19 in the Ukrainian population.
背景与目的
血管紧张素转换酶 2（ACE2）、跨膜丝氨酸 2 和丝氨酸 11A 蛋白酶（TMPRSS2、TMPRSS11A）以及细胞表面分化抗原 147（CD147）可能是冠状病毒病 19（COVID-19）易感性和死亡率的候选基因。本研究旨在探讨乌克兰人群中 ace2、tmprss2、tmprss11a 和 cd147 多态性变异与 COVID-19 严重程度之间的关系。
方法
研究人群包括患有 COVID-19 的乌克兰人群：无氧治疗的患者（n=62）、无创（n=92）和有创（n=35）氧疗的患者，以及对照组患者（n=92）。通过实时 PCR 测定 ace2 rs4240157、tmprss2 rs12329760 和 tmprss11a rs353163 的等位基因多态性，并用 PCR 检测 cd147 rs8259 多态性，随后进行限制性分析。我们通过荟萃分析将研究中的多态性分布与其他人群进行比较。
结果
我们的研究首次获得了乌克兰人群中这些基因多态性分布的数据：tmprss2 rs12329760-CC60.9%、CT35.9%、TT3.2%；tmprss11a rs353163-CC46.7%、CT40.2%、TT13.1%；ace2 rs4240157-CC7.6%、C18.5%、CT22.8%、TT19.6%、T31.5%；cd147 rs8259-TT60.9%、AT32.6%、AA6.5%。这种分布与北欧、西欧和南欧人群相似。在需要有创氧疗的 COVID-19 患者中，tmprss2 多态性基因型 CC57.1%、CT28.6%和 TT14.3%（P<0.05）的频率存在统计学显著差异。这种 tmprss2 突变发生在清道夫受体富含半胱氨酸（SRCR）结构域，可能以钙依赖的方式影响蛋白质-蛋白质相互作用。
结论
本研究表明，在乌克兰人群中，tmprss2 rs12329760 多态性与 COVID-19 的严重程度之间存在关联。
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