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Your search keyword '"Isabela Alvim"' showing total 2 results
Start Over Author "Isabela Alvim" Publisher sociedade brasileira de genetica
2 results on '"Isabela Alvim"'

1. Human-SARS-CoV-2 interactome and human genetic diversity: TMPRSS2-rs2070788, associated with severe influenza, and its population genetics caveats in Native Americans

Author

Fernanda S.G. Kehdy, Murilo Pita-Oliveira, Mariana M. Scudeler, Sabrina Torres-Loureiro, Camila Zolini, Rennan Moreira, Lucas A. Michelin, Isabela Alvim, Carolina Silva-Carvalho, Vinicius C. Furlan, Marla M. Aquino, Meddly L. Santolalla, Victor Borda, Giordano B. Soares-Souza, Luis Jaramillo-Valverde, Andres Vasquez-Dominguez, Cesar Sanchez Neira, Renato S. Aguiar, Ricardo A. Verdugo, Timothy D. O`Connor, Heinner Guio, Eduardo Tarazona-Santos, Thiago P. Leal, and Fernanda Rodrigues-Soares

Subjects
TMPRSS2, ACE2, Native Americans, SARS-CoV-2, population genomics, Genetics, QH426-470
Abstract

Abstract 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.

Published
2021
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2. Human-SARS-CoV-2 interactome and human genetic diversity: TMPRSS2-rs2070788, associated with severe influenza, and its population genetics caveats in Native Americans

Author

Meddly Santollala, Victor Borda, Carolina Silva-Carvalho, Rennan G. Moreira, Isabela Alvim, Lucas Michelin, Luis Jaramillo-Valverde, Murilo Pita-Oliveira, Fernanda S G Kehdy, Mariana Scudeler, Ricardo A. Verdugo, Timothy D. O’Connor, Andres Vasquez-Dominguez, Giordano B. Soares-Souza, Fernanda Rodrigues-Soares, Heinner Guio, Eduardo Tarazona-Santos, Vinicius Furlan, Cesar Neira, Sabrina Torres-Loureiro, Marla M. Aquino, Thiago P. Leal, Renato Santana Aguiar, and Camila Zolini

Subjects
Genetics, population genomics, SARS-CoV-2, Population genetics, ACE2, Human genetic variation, Articles, Biology, QH426-470, Interactome, Genetic architecture, Population genomics, Native Americans, Expression quantitative trait loci, Molecular Biology, Gene, Genotyping, TMPRSS2, Genetic association
Abstract

The current search for host-susceptibility variants for COVID-19 contrasts with the fact that the study of the genetic architecture of Severe Acute Respiratory Syndrome (SARS) has been neglected. For human/SARS-CoV-2 interactome genes ACE2, TMPRSS2 and BSG, there is only one 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.

Published
2021

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