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Variants in ACE2 and TMPRSS2 Genes Are Not Major Determinants of COVID-19 Severity in UK Biobank Subjects
Human Heredity ( IF 1.8 ) Pub Date : 2021-03-22 , DOI: 10.1159/000515200
David Curtis 1, 2
Affiliation  

It is plausible that variants in the ACE2 and TMPRSS2 genes might contribute to variation in COVID-19 severity and that these could explain why some people become very unwell whereas most do not. Exome sequence data was obtained for 49,953 UK Biobank subjects, of whom 82 had tested positive for SARS-CoV-2 and could be presumed to have severe disease. A weighted burden analysis was carried out using SCOREASSOC to determine whether there were differences between these cases and the other sequenced subjects in the overall burden of rare, damaging variants in ACE2 or TMPRSS2. There were no statistically significant differences in weighted burden scores between cases and controls for either gene. There were no individual DNA sequence variants with a markedly different frequency between cases and controls. Whether there are small effects on severity, or whether there might be rare variants with major effect sizes, would require studies in much larger samples. Genetic variants affecting the structure and function of the ACE2 and TMPRSS2 proteins are not the main explanation for why some people develop severe symptoms in response to infection with SARS-CoV-2. This research was conducted using the UK Biobank Resource.
Hum Hered


中文翻译:

ACE2 和 TMPRSS2 基因的变异不是英国生物库受试者 COVID-19 严重性的主要决定因素

ACE2TMPRSS2基因的变异可能导致 COVID-19 严重程度的变化是合理的,这可以解释为什么有些人变得非常不适,而大多数人却没有。获得了 49,953 名英国生物银行受试者的外显子组序列数据,其中 82 人的 SARS-CoV-2 检测呈阳性,可推测患有严重疾病。使用 SCOREASSOC 进行加权负担分析,以确定这些病例与其他测序受试者在ACE2TMPRSS2的罕见、破坏性变异的总体负担方面是否存在差异. 对于任一基因,病例和对照之间的加权负担评分没有统计学上的显着差异。病例和对照之间没有明显不同频率的单个 DNA 序列变体。无论对严重程度的影响很小,还是可能存在具有重大影响的罕见变异,都需要在更大的样本中进行研究。影响 ACE2 和 TMPRSS2 蛋白结构和功能的遗传变异并不是某些人在感染 SARS-CoV-2 后会出现严重症状的主要原因。这项研究是使用英国生物银行资源进行的。
赫瑞德
更新日期:2021-03-22
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