Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
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为什么SARS-CoV-2以不同的方式袭击？宿主遗传因素可影响COVID-19的获得或病程。
DOI：
10.1016/j.ejmg.2021.104227
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发表时间：
2021-06
影响因子：
1.9
通讯作者：
Riccio G
中科院分区：
文献类型：
--
作者：
Monticelli M;Mele BH;Andreotti G;Cubellis MV;Riccio G
识别 SARS-CoV-2 感染的高危因素和 COVID-19 的阴性结果至关重要。除了年龄和合并症之外，宿主的遗传背景也可能解释个体对 SARS-CoV-2 感染的反应。鉴于一般人群中频繁存在多态性，需要候选多态性列表来驱动目标筛选。我们在科学文献中进行了文本挖掘，以制定与术语“SARS-CoV*”相关的基因列表。我们寻找可能影响这些基因中蛋白质功能的频繁突变。确定了 10 个主要与先天免疫相关的基因和 13 个常见变异，其中一些基因与 COVID-19 的相关性得到了公开流行病学数据的支持。我们查找了这些变异的群体分布的可用数据，并证明了其中五个变异的流行率，即 MBL2 中的 Arg52Cys (rs5030737)、Gly54Asp (rs1800450) 和 Gly57Glu (rs1800451)、CD27 中的 Ala59Thr (rs25680) 和 CD27 中的 Val197Met (rs12329760)。 TMPRSS2 与不同国家观察到的 COVID-19 病例和/或死亡人数相关。 TMPRSS2 变体的关联提供了流行病学证据，证明跨膜蛋白酶丝氨酸 2 抑制剂可用于治疗 COVID-19。已确定的遗传变异为设计一种经济高效的检测方法奠定了基础，该检测方法用于对 COVID-19 大流行中的遗传风险因素进行人群筛查。
The identification of high-risk factors for the infection by SARS-CoV-2 and the negative outcome of COVID-19 is crucial. The genetic background of the host might account for individual responses to SARS-CoV-2 infection besides age and comorbidities. A list of candidate polymorphisms is needed to drive targeted screens, given the existence of frequent polymorphisms in the general population. We carried out text mining in the scientific literature to draw up a list of genes referable to the term “SARS-CoV*“. We looked for frequent mutations that are likely to affect protein function in these genes. Ten genes, mostly involved in innate immunity, and thirteen common variants were identified, for some of these the involvement in COVID-19 is supported by publicly available epidemiological data. We looked for available data on the population distribution of these variants and we demonstrated that the prevalence of five of them, Arg52Cys (rs5030737), Gly54Asp (rs1800450) and Gly57Glu (rs1800451) in MBL2, Ala59Thr (rs25680) in CD27, and Val197Met (rs12329760) in TMPRSS2, correlates with the number of cases and/or deaths of COVID-19 observed in different countries. The association of the TMPRSS2 variant provides epidemiological evidence of the usefulness of transmembrane protease serine 2 inhibitors for the cure of COVID-19. The identified genetic variants represent a basis for the design of a cost-effective assay for population screening of genetic risk factors in the COVID-19 pandemic.
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影响因子：
7.3
作者：
Kawasaki T;Kawai T
通讯作者：
Kawai T
DOI：
10.1016/j.bbrc.2004.08.208
发表时间：
2004-10-22
影响因子：
3.1
作者：
Itoyama, S;Keicho, N;Sasazuki, T
通讯作者：
Sasazuki, T
影响因子：
14.9
作者：
Amberger J;Bocchini CA;Scott AF;Hamosh A
通讯作者：
Hamosh A
DOI：
10.1534/g3.117.041434
发表时间：
2017-06-07
期刊：
G3 (Bethesda, Md.)
影响因子：
--
作者：
Gralinski LE;Menachery VD;Morgan AP;Totura AL;Beall A;Kocher J;Plante J;Harrison-Shostak DC;Schäfer A;Pardo-Manuel de Villena F;Ferris MT;Baric RS
通讯作者：
Baric RS
影响因子：
4.6
作者：
Fischer, Janett;Koukoulioti, Eleni;van Boemmel, Florian
通讯作者：
van Boemmel, Florian