Clinical and molecular characterization of COVID-19 hospitalized patients.
Clinical and molecular characterization of COVID-19 hospitalized patients.
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DOI：
10.1371/journal.pone.0242534
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发表时间：
2020
期刊：
影响因子：
3.7
通讯作者：
Mari F
中科院分区：
文献类型：
--
作者：
Benetti E;Giliberti A;Emiliozzi A;Valentino F;Bergantini L;Fallerini C;Anedda F;Amitrano S;Conticini E;Tita R;d'Alessandro M;Fava F;Marcantonio S;Baldassarri M;Bruttini M;Mazzei MA;Montagnani F;Mandalà M;Bargagli E;Furini S;GEN-COVID Multicenter Study;Renieri A;Mari F
报告了2020年4月7日至5月7日在意大利锡耶纳大学医院就诊的35例COVID-19患者的临床和分子特征。80%的患者需要呼吸辅助，其中一半需要机械通气。51%的患者有肝脏受累，3例患者有肝功能低下。通过对意大利人群150个WES对照的崩溃方法寻找共同基因，除了两个基因外，没有给出直接的统计显著结果。这一结果并不出人意料，因为我们面对的是由环境因素引发的最具挑战性的常见疾病，具有很强的潜在遗传性（50%）。从自闭症谱系障碍中吸取的教训促使我们重新分析这个队列，按照孟德尔式的模型，将每个患者作为一个独立的病例来治疗。我们为每位患者确定了平均2.5个与病毒感染易感性相关的致病突变，并确定了一种或多种罕见疾病。据我们所知，这是第一份关于WES和COVID-19的报告。我们的研究结果提出了一个与许多常见易感基因相结合的COVID-19易感模型，这些基因代表了最受欢迎的背景，其中额外的宿主私有突变可能决定疾病进展。
Clinical and molecular characterization by Whole Exome Sequencing (WES) is reported in 35 COVID-19 patients attending the University Hospital in Siena, Italy, from April 7 to May 7, 2020. Eighty percent of patients required respiratory assistance, half of them being on mechanical ventilation. Fiftyone percent had hepatic involvement and hyposmia was ascertained in 3 patients. Searching for common genes by collapsing methods against 150 WES of controls of the Italian population failed to give straightforward statistically significant results with the exception of two genes. This result is not unexpected since we are facing the most challenging common disorder triggered by environmental factors with a strong underlying heritability (50%). The lesson learned from Autism-Spectrum-Disorders prompted us to re-analyse the cohort treating each patient as an independent case, following a Mendelian-like model. We identified for each patient an average of 2.5 pathogenic mutations involved in virus infection susceptibility and pinpointing to one or more rare disorder(s). To our knowledge, this is the first report on WES and COVID-19. Our results suggest a combined model for COVID-19 susceptibility with a number of common susceptibility genes which represent the favorite background in which additional host private mutations may determine disease progression.
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影响因子：
3.8
作者：
Mori, I;Goshima, F;Kimura, Y
通讯作者：
Kimura, Y
影响因子：
4
作者：
Klamer SE;Dorland YL;Kleijer M;Geerts D;Lento WE;van der Schoot CE;von Lindern M;Voermans C
通讯作者：
Voermans C
影响因子：
30.8
作者：
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通讯作者：
Lin CL
影响因子：
--
作者：
Klimek L;Bergmann KC;Biedermann T;Bousquet J;Hellings P;Jung K;Merk H;Olze H;Schlenter W;Stock P;Ring J;Wagenmann M;Wehrmann W;Mösges R;Pfaar O
通讯作者：
Pfaar O
DOI：
10.1016/j.bbrc.2017.10.048
发表时间：
2017-12-09
影响因子：
3.1
作者：
Miyamoto, Masahiko;Komuro, Akihiko
通讯作者：
Komuro, Akihiko