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以及作为意大利COVID-19严重程度的性别和国家差异候选因素的变异和表达。

and variants and expression as candidates to sex and country differences in COVID-19 severity in Italy.

作者信息

Asselta Rosanna, Paraboschi Elvezia Maria, Mantovani Alberto, Duga Stefano

机构信息

Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan 20090, Italy.

Humanitas Clinical and Research Center, IRCCS, Rozzano, Milan 20089, Italy.

出版信息

Aging (Albany NY). 2020 Jun 5;12(11):10087-10098. doi: 10.18632/aging.103415.

Abstract

As the outbreak of coronavirus disease 2019 (COVID-19) progresses, prognostic markers for early identification of high-risk individuals are an urgent medical need. Italy has one of the highest numbers of SARS-CoV-2-related deaths and one of the highest mortality rates. Worldwide, a more severe course of COVID-19 is associated with older age, comorbidities, and male sex. Hence, we searched for possible genetic components of COVID-19 severity among Italians by looking at expression levels and variants in and genes, crucial for viral infection.Exome and SNP-array data from a large Italian cohort were used to compare the rare-variants burden and polymorphisms frequency with Europeans and East Asians. Moreover, we looked into gene expression databases to check for sex-unbalanced expression.While we found no significant evidence that is associated with disease severity/sex bias, levels and genetic variants proved to be possible candidate disease modulators, prompting for rapid experimental validations on large patient cohorts.

摘要

随着2019年冠状病毒病(COVID-19)疫情的发展,迫切需要用于早期识别高危个体的预后标志物。意大利是与严重急性呼吸综合征冠状病毒2型(SARS-CoV-2)相关死亡人数最多、死亡率最高的国家之一。在全球范围内,COVID-19病情较重与年龄较大、合并症和男性性别有关。因此,我们通过观察对病毒感染至关重要的基因和基因的表达水平及变异,来寻找意大利人群中COVID-19严重程度可能的遗传成分。利用来自意大利一个大型队列的外显子组和单核苷酸多态性(SNP)阵列数据,将罕见变异负担和多态性频率与欧洲人和东亚人进行比较。此外,我们还研究了基因表达数据库,以检查性别不平衡表达情况。虽然我们没有发现与疾病严重程度/性别偏差相关的显著证据,但基因水平和基因变异被证明可能是疾病调节的候选因素,这促使我们对大型患者队列进行快速实验验证。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a35e/7346072/cd96606e466b/aging-12-103415-g001.jpg

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