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COVID-19: Variant screening, an important step towards precision epidemiology
bioRxiv - Genomics Pub Date : 2020-10-19 , DOI: 10.1101/2020.10.19.345140
Amrita Chattopadhyay , Tzu-Pin Lu , Ching-Yu Shih , Liang-Chuan Lai , Mong-Hsun Tsai , Eric Y. Chuang

Precision epidemiology using genomic technologies allows for a more targeted approach to COVID-19 control and treatment at individual and population level, and is the urgent need of the day. It enables identification of patients who may be at higher risk than others to COVID-19-related mortality, due to their genetic architecture, or who might respond better to a COVID-19 treatment. The COVID-19 virus, similar to SARS-CoV, uses the ACE2 receptor for cell entry and employs the cellular serine protease TMPRSS2 for viral S protein priming. This study aspires to present a multi-omics view of how variations in the ACE2 and TMPRSS2 genes affect COVID-19 infection and disease progression in affected individuals. It reports, for both genes, several variant and gene expression analysis findings, through (i) comparison analysis over single nucleotide polymorphisms (SNPs), that may account for the difference of COVID-19 manifestations among global sub-populations; (ii) calculating prevalence of structural variations (copy number variations (CNVs) / insertions), amongst populations; and (iii) studying expression patterns stratified by gender and age, over all human tissues. This work is a good first step to be followed by additional studies and functional assays towards informed treatment decisions and improved control of the infection rate.

中文翻译:

COVID-19:变异筛查是迈向精准流行病学的重要一步

使用基因组技术的精确流行病学允许在个人和人群水平上采用更有针对性的方法来控制和治疗COVID-19,这已成为当今的迫切需求。它可以识别出因其遗传结构而可能比其他人具有更高风险的COVID-19相关死亡率的患者,或者对COVID-19治疗可能反应更好的患者。与SARS-CoV类似,COVID-19病毒使用ACE2受体进入细胞,并使用细胞丝氨酸蛋白酶TMPRSS2进行病毒S蛋白引发。这项研究旨在提出一种多组学的观点,即ACE2和TMPRSS2基因的变异如何影响受影响个体的COVID-19感染和疾病进展。它报告了两个基因的一些变异和基因表达分析结果,通过(i)对单核苷酸多态性(SNP)的比较分析,可以解释全球亚人群之间COVID-19表现形式的差异;(ii)计算人群中结构变异的发生率(拷贝数变异(CNV)/插入);(iii)研究在所有人体组织上按性别和年龄分层的表达模式。这项工作是迈出良好的第一步,随后将进行更多的研究和功能测定,以做出明智的治疗决策并改善感染率的控制。覆盖所有人体组织。这项工作是迈出良好的第一步,随后将进行更多的研究和功能测定,以做出明智的治疗决策并改善感染率的控制。覆盖所有人体组织。这项工作是迈出良好的第一步,随后将进行更多的研究和功能测定,以做出明智的治疗决策并改善感染率的控制。
更新日期:2020-10-20
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