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Human-SARS-CoV-2 interactome and human genetic diversity: TMPRSS2-rs2070788, associated with severe influenza, and its population genetics caveats in Native Americans.
Genetics and Molecular Biology ( IF 1.7 ) Pub Date : 2021-08-25 , DOI: 10.1590/1678-4685-gmb-2020-0484
Fernanda S G Kehdy 1 , Murilo Pita-Oliveira 2 , Mariana M Scudeler 2 , Sabrina Torres-Loureiro 2 , Camila Zolini 3, 4 , Rennan Moreira 3 , Lucas A Michelin 3 , Isabela Alvim 3 , Carolina Silva-Carvalho 3 , Vinicius C Furlan 3 , Marla M Aquino 3 , Meddly L Santolalla 5 , Victor Borda 6 , Giordano B Soares-Souza 3 , Luis Jaramillo-Valverde 7 , Andres Vasquez-Dominguez 7 , Cesar Sanchez Neira 8 , Renato S Aguiar 3 , Ricardo A Verdugo 9, 10 , Timothy D O Connor 11, 12, 13 , Heinner Guio 8, 14 , Eduardo Tarazona-Santos 3 , Thiago P Leal 3 , Fernanda Rodrigues-Soares 2
Affiliation  

For human/SARS-CoV-2 interactome genes ACE2, TMPRSS2 and BSG, there is a convincing evidence of association in Asians with influenza-induced SARS for TMPRSS2-rs2070788, tag-SNP of the eQTL rs383510. This case illustrates the importance of population genetics and of sequencing data in the design of genetic association studies in different human populations: the high linkage disequilibrium (LD) between rs2070788 and rs383510 is Asian-specific. Leveraging on a combination of genotyping and sequencing data for Native Americans (neglected in genetic studies), we show that while their frequencies of the Asian tag-SNP rs2070788 is, surprisingly, the highest worldwide, it is not in LD with the eQTL rs383510, that therefore, should be directly genotyped in genetic association studies of SARS in populations with Native American ancestry.

中文翻译:

人类 SARS-CoV-2 相互作用组和人类遗传多样性:与严重流感相关的 TMPRSS2-rs2070788 及其在美洲原住民中的群体遗传学警告。

对于人类/SARS-CoV-2 相互作用基因 ACE2、TMPRSS2 和 BSG,有令人信服的证据表明亚洲人与流感诱导的 SARS 的 TMPRSS2-rs2070788(eQTL rs383510 的标签 SNP)相关。这个案例说明了群体遗传学和测序数据在不同人群遗传关联研究设计中的重要性:rs2070788 和 rs383510 之间的高度连锁不平衡 (LD) 是亚洲特有的。结合美洲原住民的基因分型和测序数据(在遗传学研究中被忽视),我们发现,令人惊讶的是,尽管他们的亚洲标签 SNP rs2070788 的频率是全世界最高的,但它并不与 eQTL rs383510 处于 LD 状态,因此,应该在美洲原住民血统人群中的 SARS 遗传关联研究中直接进行基因分型。
更新日期:2021-08-25
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