Genomewide Association Study of Severe Covid-19 with Respiratory Failure
Genomewide Association Study of Severe Covid-19 with Respiratory Failure
复制标题
DOI：
10.1056/nejmoa2020283
复制
发表时间：
2020-10-15
影响因子：
158.5
通讯作者：
Karlsen, Tom H.
中科院分区：
文献类型：
--
作者：
Ellinghaus, David;Degenhardt, Frauke;Karlsen, Tom H.
背景感染严重急性呼吸综合征冠状病毒2（SARS-CoV-2）的患者在疾病行为方面存在相当大的差异，该病毒导致2019冠状病毒病（Covid-19）。全基因组关联分析可能有助于识别参与Covid-19发展的潜在遗传因素。方法我们进行了一项全基因组关联研究，涉及1980名患有Covid-19和严重疾病（定义为呼吸衰竭）的患者，这些患者来自欧洲SARS-CoV-2流行中心的意大利和西班牙的七家医院。在质量控制和排除群体离群值后，来自意大利的835名患者和1255名对照参与者以及来自西班牙的775名患者和950名对照参与者被纳入最终分析。我们总共分析了8，582，968个单核苷酸多态性，并对两个病例对照组进行了荟萃分析。结果我们检测到与3p21.31位点rs 11385942和9q34.2位点rs657152的交叉复制关联，在全基因组水平上具有显著性（P
BackgroundThere is considerable variation in disease behavior among patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes coronavirus disease 2019 (Covid-19). Genomewide association analysis may allow for the identification of potential genetic factors involved in the development of Covid-19.MethodsWe conducted a genomewide association study involving 1980 patients with Covid-19 and severe disease (defined as respiratory failure) at seven hospitals in the Italian and Spanish epicenters of the SARS-CoV-2 pandemic in Europe. After quality control and the exclusion of population outliers, 835 patients and 1255 control participants from Italy and 775 patients and 950 control participants from Spain were included in the final analysis. In total, we analyzed 8,582,968 single-nucleotide polymorphisms and conducted a meta-analysis of the two case-control panels.ResultsWe detected cross-replicating associations with rs11385942 at locus 3p21.31 and with rs657152 at locus 9q34.2, which were significant at the genomewide level (P