Meseldžić Neven, Prnjavorac Besim, Dujić Tanja, Malenica Maja, Glamočlija Una, Prnjavorac Lejla, Bedak Omer, Imamović Kadrić Selma, Marjanović Damir, Bego Tamer
Tamer Bego, Department of Pharmaceutical Biochemistry and Laboratory Diagnostics, Faculty of Pharmacy, University of Sarajevo, Zmaja od Bosne 8, 71000 Sarajevo, Bosnia and Herzegovina,
Croat Med J. 2024 Jun 13;65(3):220-231. doi: 10.3325/cmj.2024.65.220.
To assess the association of single nucleotide polymorphisms (SNPs) in the ACE2 and TMPRSS2 genes with COVID-19 severity and key biomarkers.
The study involved 750 COVID-19 patients from Bosnia and Herzegovina, divided into three groups: mild, moderate, and severe cases. Genetic variations within the ACE2 (rs2285666) and TMPRSS2 (rs2070788) genes were examined with real-time polymerase chain reaction. Biochemical markers were determined with standard procedures.
There was a significant difference in the rs2070788 genotype distribution between patients with mild and moderate symptoms, but not between other groups. For the rs2285666 polymorphism, no significant difference in genotype distribution was found. In patients with mild symptoms, carriers of the GG genotype of rs2070788 had significantly higher total bilirubin levels than carriers of the AA genotype. Similarly, carriers of the TT genotype of rs2285666 had significantly higher activated partial thromboplastin time and international normalized ratio, and lower lactate dehydrogenase levels compared with the CC genotype. Among patients with severe symptoms, carriers of the GG genotype showed significantly higher potassium levels than carriers of the AA genotype, while carriers of the TT genotype showed significantly higher erythrocyte count as well as hemoglobin and hematocrit levels compared with the CC genotype.
This study highlights the role of genetic factors, particularly SNPs in the ACE2 and TMPRSS2 genes, in determining COVID-19 severity, aiding patient risk assessment and prognosis.
评估血管紧张素转换酶2（ACE2）和跨膜丝氨酸蛋白酶2（TMPRSS2）基因中的单核苷酸多态性（SNP）与新型冠状病毒肺炎（COVID-19）严重程度及关键生物标志物之间的关联。
该研究纳入了来自波斯尼亚和黑塞哥维那的750例COVID-19患者，分为三组：轻症、中症和重症病例。采用实时聚合酶链反应检测ACE2（rs2285666）和TMPRSS2（rs2070788）基因内的基因变异。用标准程序测定生化标志物。
轻症和中症患者之间rs2070788基因型分布存在显著差异，但其他组之间无差异。对于rs2285666多态性，未发现基因型分布有显著差异。在轻症患者中，rs2070788的GG基因型携带者的总胆红素水平显著高于AA基因型携带者。同样，rs2285666 的TT基因型携带者与CC基因型携带者相比，活化部分凝血活酶时间和国际标准化比值显著更高，乳酸脱氢酶水平更低。在重症患者中，GG基因型携带者的血钾水平显著高于AA基因型携带者，而TT基因型携带者与CC基因型携带者相比，红细胞计数、血红蛋白和血细胞比容水平显著更高。
本研究强调了遗传因素，特别是ACE2和TMPRSS2基因中的SNP在确定COVID-19严重程度方面的作用，有助于患者风险评估和预后判断。
