TY - JOUR
T1 - Human-sars-cov-2 interactome and human genetic diversity
T2 - Tmprss2-rs2070788, associated with severe influenza, and its population genetics caveats in native americans
AU - Kehdy, Fernanda S.G.
AU - Pita-Oliveira, Murilo
AU - Scudeler, Mariana M.
AU - Torres-Loureiro, Sabrina
AU - Zolini, Camila
AU - Moreira, Rennan
AU - Michelin, Lucas A.
AU - Alvim, Isabela
AU - Silva-Carvalho, Carolina
AU - Furlan, Vinicius C.
AU - Aquino, Marla M.
AU - Santolalla, Meddly L.
AU - Borda, Victor
AU - Soares-Souza, Giordano B.
AU - Jaramillo-Valverde, Luis
AU - Vasquez-Dominguez, Andres
AU - Neira, Cesar Sanchez
AU - Aguiar, Renato S.
AU - Verdugo, Ricardo A.
AU - O`connor, Timothy D.
AU - Guio, Heinner
AU - Tarazona-Santos, Eduardo
AU - Leal, Thiago P.
AU - Rodrigues-Soares, Fernanda
N1 - Publisher Copyright:
© Sociedade Brasileira de Genética.
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - ACE2
KW - Native Americans
KW - Population genomics
KW - SARS-CoV-2
KW - TMPRSS2
UR - https://www.scopus.com/pages/publications/85114294281
U2 - 10.1590/1678-4685-GMB-2020-0484
DO - 10.1590/1678-4685-GMB-2020-0484
M3 - Article
AN - SCOPUS:85114294281
SN - 1415-4757
VL - 44
JO - Genetics and Molecular Biology
JF - Genetics and Molecular Biology
IS - 1
M1 - e20200484
ER -