雅加达地区印尼人群TMPRSS2基因多态性与COVID-19严重程度的关系

Erlin Listiyaningsih, Rizkyana Avissa, Shinta Dewi Permata Sari, Wening Tri Mawanti, Dewi Martalena
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摘要

背景:由SARS-CoV-2病毒引起的COVID-19疾病具有多种症状,从无症状、轻微症状(如流感样疾病和肺炎)到以死亡为结局的急性呼吸窘迫综合征。到目前为止,COVID-19疾病引起广泛症状的机制以及影响其严重程度和因素仍不清楚。在病毒内化过程中,它需要被TMPRSS2基因编码的丝氨酸蛋白酶裂解。假设TMPRSS2基因的高表达会导致病毒内化到细胞中,从而导致患者出现更严重的症状。方法:采用单核苷酸多态性基因型检测,证实TMPRSS2基因是否与其他病毒性呼吸道疾病一样影响COVID-19的严重程度。更好地了解与该疾病相关的基因表达,希望我们能够更好地了解COVID-19的机制,并建立更好的治疗和预防方法。本研究共纳入68例COVID-19患者,根据临床症状分为轻度无症状组(n=12)和中重度症状组(n=56)。从患者身上分离出PBMC细胞。提取DNA作为模板,对TMPRSS2 rs2070788基因变异进行SNP基因分型。结果:A/A纯合基因型35份,A/G杂合基因型29份,G/G纯合基因型4份。n=29)和杂合子A/G (n=23),纯合子G/G只有4个。此外,纯合子G/G基因型仅在中重度组检测到。结论:无症状轻症组需要更多的样本,才能从统计学上证明G/G纯合变异体或G等位基因与COVID-19患者的严重程度普遍相关。
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The Relation of TMPRSS2 Gene Polymorphism to COVID-19 Severity of Indonesian Population in Jakarta
Background: The COVID-19 disease caused by the SARS-CoV-2 virus has diverse symptoms, ranging from asymptomatic, mild symptoms such as flu-like illness and pneumonia to acute respiratory distress syndrome, which ends in death. Until now, the mechanism of the COVID-19 disease that causes widespread symptoms and the severity and factors that influence it are still unclear. During viral internalization, it needs to be cleaved by the serine protease encoded by the TMPRSS2 gene. It is hypothesized that higher expression of the TMPRSS2 gene causes higher virus internalization into cells, leading to more severe symptoms in patients. Methods: The Single Nucleotide Polymorphism Genotype Test was carried out to prove whether the TMPRSS2 gene affects the severity of COVID-19, as evidenced in other viral respiratory diseases. With a better understanding of gene expression related to this disease, it is hoped that we can better understand the mechanism of COVID-19 and establish better therapies and prevention against it. In this study, 68 COVID-19 patients participated and were categorized into two groups based on their clinical symptoms, namely mild symptoms without symptoms (n=12) and Moderate-Severe symptoms (n=56). PBMC cells were isolated from the patient. Then the DNA was extracted and used as a template in the SNP Genotyping of the TMPRSS2 rs2070788 gene variant. Results: The results showed that 35 samples had A/A homozygous genotypes, 29 A/G heterozygous samples, and 4 G/G homozygous samples. n=29) and heterozygous A/G (n=23), whereas only 4 were homozygous G/G. In addition, the homozygous G/G genotype was only detected in the moderate-severe group. Conclusions: A more significant number of samples from the asymptomatic mild symptom group is needed to statistically prove that homozygous G/G variants or G alleles are generally associated with the severity of COVID-19 patients.
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