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ACE2 polymorphisms as potential players in COVID-19 outcome
medRxiv - Genetic and Genomic Medicine Pub Date : 2020-05-29 , DOI: 10.1101/2020.05.27.20114843
André Salim Khayat , Paulo Pimentel de Assumpção , Bruna Claudia Meireles Khayat , Taíssa Maíra Thomaz Araújo , Jéssica Almeida Batista-Gomes , Luciana Carvalho Imbiriba , Geraldo Ishak , Paula Baraúna de Assumpção , Fabiano Cordeiro Moreira , Rommel Rodriguez Burbano , André Ribeiro-dos-Santos , Ândrea Kelly Ribeiro-dos-Santos , Ney Pereira Carneiro dos Santos , Sidney Emmanuel Batista dos Santos

The clinical condition COVID-19, caused by SARS-CoV-2, was declared a pandemic by the WHO in March 2020. Currently, there are more than 5 million cases worldwide, and the pandemic has increased exponentially in many countries, with different incidences and death rates among regions/ethnicities and, intriguingly, between sexes. In addition to the many factors that can influence these discrepancies, we suggest a biological aspect, the genetic variation at the viral S protein receptor in human cells, ACE2 (angiotensin I-converting enzyme 2), which may contribute to the worse clinical outcome in males and in some regions worldwide. We performed exomics analysis in native and admixed South American populations, and we also conducted in silico genomics databank investigations in populations from other continents. Interestingly, at least ten polymorphisms in coding, noncoding and regulatory sites were found that can shed light on this issue and offer a plausible biological explanation for these epidemiological differences. In conclusion, ACE2 polymorphisms should influence epidemiological discrepancies observed among ancestry and, moreover, between sexes.

中文翻译:

ACE2多态性可能成为COVID-19结果的潜在参与者

由SARS-CoV-2引起的临床疾病COVID-19,于2020年3月被世界卫生组织宣布为大流行病。目前,世界范围内有超过500万例病例,而且在许多国家,大流行病的发病率呈指数增长,且发病率不同和地区/族裔之间,以及有趣的是,性别之间的死亡率。除了可能影响这些差异的许多因素外,我们还提出了生物学方面的考虑,即人细胞中病毒S蛋白受体ACE2(血管紧张素I转换酶2)的遗传变异,可能会导致更差的临床结局。男性以及世界各地的某些地区。我们在南美原住民和混居人口中进行了组学分析,还对其他大洲的人口进行了计算机基因组学数据库调查。有趣的是 在编码,非编码和调控位点中至少发现了十个多态性,可以阐明这一问题,并为这些流行病学差异提供合理的生物学解释。总之,ACE2多态性应该影响在祖先之间以及性别之间观察到的流行病学差异。
更新日期:2020-05-29
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