Sabrina Torres-Loureiro

Universidade Federal do Triângulo Mineiro

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Mariana M. Scudeler

Universidade Federal do Triângulo Mineiro

Fernanda Rodrigues‐Soares

Universidade Federal do Triângulo Mineiro

Murilo Pita-Oliveira

Universidade Federal do Triângulo Mineiro

Bruno Miwa

Universidade Federal do Triângulo Mineiro

Giovana Nakanishi

Universidade Federal do Triângulo Mineiro

Heithor S. Cirino

Universidade de São Paulo

Laísa S. Bertagnolli

Universidade Federal do Triângulo Mineiro

Víctor Borda

University of Maryland, Baltimore

Isabela Alvim

Massey University

Eduardo Tarazona-Santos

Universidade Federal de Minas Gerais

Cooperative Institutions

Universidade Federal de Minas Gerais

Universidade Federal do Triângulo Mineiro

Instituto Nacional de Salud

Universidad Peruana Cayetano Heredia

University of Maryland, Baltimore

National University of San Marcos

National Center for Genetic Engineering and Biotechnology

Fundação Oswaldo Cruz

Universidad de Extremadura

University of Chile

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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

Figshare (2021)

Fernanda S. G. Kehdy Murilo Pita-Oliveira Mariana M. Scudeler Sabrina Torres-Loureiro Camila Zolini

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.

TMPRSS2

Interactome

2019-20 coronavirus outbreak

10.6084/m9.figshare.16494319

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Citations (0)

GSTM1 and GSTT1 polymorphisms in healthy volunteers – a worldwide systematic review

Drug Metabolism Reviews (2022)

Giovana Nakanishi Laísa S. Bertagnolli Murilo Pita-Oliveira Mariana M. Scudeler Sabrina Torres-Loureiro

The GSTM1 and GSTT1 genes encode homonymous enzymes, which are responsible for the detoxification of several substances potentially harmful to the human body, such as air pollution, drugs, pesticides, and tobacco. However, some individuals may present a complete deletion of these genes and, consequently, an enzyme deficiency leading to an inadequate metabolism and, therefore, a higher susceptibility to some clinical conditions. Interethnic variations have also been described for both genes, making necessary the study of the deletion frequencies of GSTM1 and GSTT1 in different populations around the world. So, the aim of this study was to enable the synthesis and discussion of the main population differences of GSTM1 and GSTT1 polymorphisms in healthy volunteers. Searches were performed in the PubMed database, including 533 articles and 178,566 individuals in the analyses. We found an overrepresentation of European individuals and studies, and an underrepresentation of non-European ethnicities. Moreover, there are significant frequency differences among distinct ethnic groups: East Asians present the highest frequencies worldwide for GSTM1 and GSTT1 deletions, which could suggest higher disorders risk for this population; in contrast, Sub-Saharan Africans presented the lowest frequency of GSTM1 worldwide, corroborating evolution inferences performed previously for other genes codifying metabolism enzymes. Also, admixture is a relevant component when analyzing frequency values for both genes, but further studies focusing on this subject are warranted.

European population

10.1080/03602532.2022.2036996

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Citations (9)

Worldwide Systematic Review of GSTM1 and GSTT1 Null Genotypes by Continent, Ethnicity, and Therapeutic Area

OMICS A Journal of Integrative Biology (2022)

Giovana Nakanishi Murilo Pita-Oliveira Laísa S. Bertagnolli Sabrina Torres-Loureiro Mariana M. Scudeler

Glutathione S-transferase Mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) enzymes are glutathione-S-transferases with broad significance for susceptibility or resistance to multifactorial human diseases, as well as detoxification of environmental chemicals and drugs. Moreover, some individuals may have a complete deletion of GSTM1 and GSTT1 genes, which can contribute to patient-to-patient variability in drug safety and efficacy. GSTM1 and GSTT1 gene deletion frequencies can vary according to ethnicity and continental origin of the studied population with implications for achieving the goal of precision/personalized medicine in clinical practice. We report here a worldwide systematic review of the null genotypes in these two clinically important genes by continents, ethnicities, and therapeutic areas (TAs). Searches were performed in the PubMed database covering the period from 1992 to 2020. Out of the 1925 articles included, most studies analyzed European individuals, corroborating the literature failure for not adequately considering the non-European ethnicities. The frequency of GSTM1 and GSTT1 null genotypes was higher in patients than in healthy volunteers. Conversely, in East Asians, higher frequencies of the null genotypes were observed in healthy volunteers than patients. Oncology was the most intensively studied TA (57% of the articles) in relation to GSTM1 and GSTT1. In all, these results demonstrate that there is an important gap in the literature in terms of failure to consider a broader range of populations, as well as diseases wherein GSTM1 and GSTT1 variations have clinical and biological implications. To achieve precision/personalized medicine on a global/worldwide scale, with equity and inclusiveness, this knowledge/research gap ought to be remedied in studies of GSTM1 and GSTT1 null genotypes. To the best of our knowledge, this is the largest systematic review conducted to date addressing the GSTM1 and GSTT1 null genotypes worldwide. The analyses from the 1925 articles highlighted the current knowledge gaps in different TAs, ethnicities, and populations. Filling these gaps is of importance, given the role these genes play in relation to the metabolism of substances to which we have frequent contact with, the associations observed between their deletion and diseases such as cancer, in addition to the interethnic differences observed for the deletion frequencies of these genes.

Glutathione S-transferase

Personalized Medicine

10.1089/omi.2022.0090

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Citations (12)

Pharmacogenetics research in Brazil: a systematic review

Pharmacogenomics (2022)

Sabrina Torres-Loureiro Mariana M. Scudeler Poliana X. C. Andrade Julia Sampaio-Coelho Igor H Nobre

Aim: Pharmacogenomics (PGx) is a rising scientific area in many countries, such as Brazil. Objectives: To identify biomarkers, therapeutic areas, probe drugs and regions/ethnicities most studied in the country in order to guide future studies. Materials & methods: Systematic review of 1060 studies (from 1968 to 2020) comprising 80 genes, six probe drugs and 3,819,233 individuals. Results: MTHFR and HLA-A/B were the most studied genes and metoprolol and dextromethorphan the most studied probe drugs. Oncology was the most studied therapeutic area considering PGx biomarkers. The country's regions and ethnic groups were studied unevenly, with south/southeast and White people over-represented in respect to their demographic relevance, in detriment of the center-west/northeast/north and Black/mixed individuals. Conclusion: Many of the gaps and possible paths to be covered to reach even PGx data are pointed out by this review.

Pharmacogenomics

Personalized Medicine

10.2217/pgs-2021-0128

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Citations (2)

Theranostics for COVID-19 Antiviral Drugs: Prospects and Challenges for Worldwide Precision/Personalized Medicine

OMICS A Journal of Integrative Biology (2023)

Caíque Manóchio Sabrina Torres-Loureiro Mariana M. Scudeler Bruno Miwa Fernanda C. Souza-Santos

Coronavirus disease 2019 (COVID-19) is a systemic disease that impacts multiple organ systems with a complex clinical presentation and outcomes that can vary from person to person and between populations. To optimize COVID-19 treatment outcomes, and in light of the availability of antiviral drugs, there is a need for greater attention to the field of theranostics, the fusion of therapeutics and diagnostics. Theranostics tests would be invaluable, we suggest in this expert review, so as to optimize the efficacy and safety of current and future antiviral drugs against COVID-19. Theranostics would also assist in the design and implementation of clinical trials with antiviral drug candidates. We discuss here theranostics considering drugs such as remdesivir, Paxlovid™, and molnupiravir. All in all, we underscore that theranostics as a concept and practice is essential for efficient and safe health interventions against COVID-19 and other ecological crises in the 21st century.

Personalized Medicine

2019-20 coronavirus outbreak

Antiviral drug

10.1089/omi.2022.0151

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Citations (3)

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 (2021)

Fernanda S. G. Kehdy Murilo Pita-Oliveira Mariana M. Scudeler Sabrina Torres-Loureiro Camila Zolini

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.

Linkage Disequilibrium

Genetic Association

Interactome

SNP

Human genetics

TMPRSS2

SNP genotyping

Population Genetics

Genome-wide Association Study

10.1590/1678-4685-gmb-2020-0484

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Citations (6)

FARMACOGENÉTICA DA TUBERCULOSE

Acta Biologica Brasiliensia. (2024)

Bruno Miwa Mariana M. Scudeler Alex Júnior Braga Pinto Caíque Manóchio Sabrina Torres-Loureiro

Tuberculosis is a major cause of death worldwide and is especially prevalent in developing countries. It is known that the response to pharmacologic treatments can be influenced by several factors, including genetics, the focus of pharmacogenetics, and ethnicity. We conducted a review of the literature encompassing genes of pharmacogenetic interest to evaluate the data currently available in reference to treatment response alterations, allele frequencies, and interethnic differences. Through our statistical analyses, we were able to point out potential protective and risk variants for several ethnicities, especially for NAT2 gene, indicating future paths to be pursued by further initiatives for a future of safer and more effective tuberculosis treatments.

SAFER

10.18554/acbiobras.v7i1.7654

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Citations (0)

GSTM1 and GSTT1 polymorphisms in healthy volunteers – a worldwide systematic review

Figshare (2022)

Giovana Nakanishi Laísa S. Bertagnolli Murilo Pita-Oliveira Mariana M. Scudeler Sabrina Torres-Loureiro

The GSTM1 and GSTT1 genes encode homonymous enzymes, which are responsible for the detoxification of several substances potentially harmful to the human body, such as air pollution, drugs, pesticides, and tobacco. However, some individuals may present a complete deletion of these genes and, consequently, an enzyme deficiency leading to an inadequate metabolism and, therefore, a higher susceptibility to some clinical conditions. Interethnic variations have also been described for both genes, making necessary the study of the deletion frequencies of GSTM1 and GSTT1 in different populations around the world. So, the aim of this study was to enable the synthesis and discussion of the main population differences of GSTM1 and GSTT1 polymorphisms in healthy volunteers. Searches were performed in the PubMed database, including 533 articles and 178,566 individuals in the analyses. We found an overrepresentation of European individuals and studies, and an underrepresentation of non-European ethnicities. Moreover, there are significant frequency differences among distinct ethnic groups: East Asians present the highest frequencies worldwide for GSTM1 and GSTT1 deletions, which could suggest higher disorders risk for this population; in contrast, Sub-Saharan Africans presented the lowest frequency of GSTM1 worldwide, corroborating evolution inferences performed previously for other genes codifying metabolism enzymes. Also, admixture is a relevant component when analyzing frequency values for both genes, but further studies focusing on this subject are warranted.

10.6084/m9.figshare.19178261

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Citations (0)