Pharmacogenomic Profile of Amazonian Amerindians
Autor(a) principal: | |
---|---|
Data de Publicação: | 2022 |
Outros Autores: | , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRN |
Texto Completo: | https://repositorio.ufrn.br/handle/123456789/48276 https://doi.org/10.3390/jpm12060952 |
Resumo: | Given the role of pharmacogenomics in the large variability observed in drug efficacy/safety, an assessment about the pharmacogenomic profile of patients prior to drug prescription or dose adjustment is paramount to improve adherence to treatment and prevent adverse drug reaction events. A population commonly underrepresented in pharmacogenomic studies is the Native American populations, which have a unique genetic profile due to a long process of geographic isolation and other genetic and evolutionary processes. Here, we describe the pharmacogenetic variability of Native American populations regarding 160 pharmacogenes involved in absorption, distribution, metabolism, and excretion processes and biological pathways of different therapies. Data were obtained through complete exome sequencing of individuals from 12 different Amerindian groups of the Brazilian Amazon. The study reports a total of 3311 variants; of this, 167 are exclusive to Amerindian populations, and 1183 are located in coding regions. Among these new variants, we found non-synonymous coding variants in the DPYD and the IFNL4 genes and variants with high allelic frequencies in intronic regions of the MTHFR, TYMS, GSTT1, and CYP2D6 genes. Additionally, 332 variants with either high or moderate (disruptive or non-disruptive impact in protein effectiveness, respectively) significance were found with a minimum of 1% frequency in the Amazonian Amerindian population. The data reported here serve as scientific basis for future design of specific treatment protocols for Amazonian Amerindian populations as well as for populations admixed with them, such as the Northern Brazilian population |
id |
UFRN_e3024153bd724cfcf0f26230d797f1f3 |
---|---|
oai_identifier_str |
oai:https://repositorio.ufrn.br:123456789/48276 |
network_acronym_str |
UFRN |
network_name_str |
Repositório Institucional da UFRN |
repository_id_str |
|
spelling |
Rodrigues, Juliana Carla GomesFernandes, Marianne RodriguesRibeiro-dos-Santos, André MaurícioAraújo, Gilderlanio Santana deSouza, Sandro José deGuerreiro, João FariasRibeiro-dos-Santos, ÂndreaAssumpção, Paulo Pimentel deSantos, Ney Pereira Carneiro dosSantos, Sidney2022-06-24T13:20:33Z2022-06-24T13:20:33Z2022-06-10RODRIGUES, Juliana; FERNANDES, Marianne; RIBEIRO-DOS-SANTOS, André; ARAÚJO, Gilderlanio; SOUZA, Sandro José de; GUERREIRO, João; RIBEIRO-DOS-SANTOS, Ândrea; ASSUMPÇÃO, Paulo; SANTOS, Ney; SANTOS, Sidney. Pharmacogenomic Profile of Amazonian Amerindians. Journal of Personalized Medicine, Nova Iorque (Estados Unidos), v. 12, n. 6, p. 952, jun. 2022. Disponível em: https://www.mdpi.com/2075-4426/12/6/952/htm. Acesso em: 23 jun. 2022.https://repositorio.ufrn.br/handle/123456789/48276https://doi.org/10.3390/jpm12060952MDPI AGAttribution 3.0 Brazilhttp://creativecommons.org/licenses/by/3.0/br/info:eu-repo/semantics/openAccessNative AmericanPharmacogeneticsExome sequencingPharmacogenesPrecision medicinePharmacogenomic Profile of Amazonian Amerindiansinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleGiven the role of pharmacogenomics in the large variability observed in drug efficacy/safety, an assessment about the pharmacogenomic profile of patients prior to drug prescription or dose adjustment is paramount to improve adherence to treatment and prevent adverse drug reaction events. A population commonly underrepresented in pharmacogenomic studies is the Native American populations, which have a unique genetic profile due to a long process of geographic isolation and other genetic and evolutionary processes. Here, we describe the pharmacogenetic variability of Native American populations regarding 160 pharmacogenes involved in absorption, distribution, metabolism, and excretion processes and biological pathways of different therapies. Data were obtained through complete exome sequencing of individuals from 12 different Amerindian groups of the Brazilian Amazon. The study reports a total of 3311 variants; of this, 167 are exclusive to Amerindian populations, and 1183 are located in coding regions. Among these new variants, we found non-synonymous coding variants in the DPYD and the IFNL4 genes and variants with high allelic frequencies in intronic regions of the MTHFR, TYMS, GSTT1, and CYP2D6 genes. Additionally, 332 variants with either high or moderate (disruptive or non-disruptive impact in protein effectiveness, respectively) significance were found with a minimum of 1% frequency in the Amazonian Amerindian population. The data reported here serve as scientific basis for future design of specific treatment protocols for Amazonian Amerindian populations as well as for populations admixed with them, such as the Northern Brazilian populationengreponame:Repositório Institucional da UFRNinstname:Universidade Federal do Rio Grande do Norte (UFRN)instacron:UFRNORIGINALPharmacogenomicProfileOfAmazonian_Souza_2022.pdfPharmacogenomicProfileOfAmazonian_Souza_2022.pdfPharmacogenomicProfileOfAmazonian_Souza_2022application/pdf567241https://repositorio.ufrn.br/bitstream/123456789/48276/1/PharmacogenomicProfileOfAmazonian_Souza_2022.pdfe9ad9b005e64a557c13528beaebf10a8MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8914https://repositorio.ufrn.br/bitstream/123456789/48276/2/license_rdf4d2950bda3d176f570a9f8b328dfbbefMD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81484https://repositorio.ufrn.br/bitstream/123456789/48276/3/license.txte9597aa2854d128fd968be5edc8a28d9MD53123456789/482762022-06-24 10:20:34.106oai:https://repositorio.ufrn.br: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Repositório de PublicaçõesPUBhttp://repositorio.ufrn.br/oai/opendoar:2022-06-24T13:20:34Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN)false |
dc.title.pt_BR.fl_str_mv |
Pharmacogenomic Profile of Amazonian Amerindians |
title |
Pharmacogenomic Profile of Amazonian Amerindians |
spellingShingle |
Pharmacogenomic Profile of Amazonian Amerindians Rodrigues, Juliana Carla Gomes Native American Pharmacogenetics Exome sequencing Pharmacogenes Precision medicine |
title_short |
Pharmacogenomic Profile of Amazonian Amerindians |
title_full |
Pharmacogenomic Profile of Amazonian Amerindians |
title_fullStr |
Pharmacogenomic Profile of Amazonian Amerindians |
title_full_unstemmed |
Pharmacogenomic Profile of Amazonian Amerindians |
title_sort |
Pharmacogenomic Profile of Amazonian Amerindians |
author |
Rodrigues, Juliana Carla Gomes |
author_facet |
Rodrigues, Juliana Carla Gomes Fernandes, Marianne Rodrigues Ribeiro-dos-Santos, André Maurício Araújo, Gilderlanio Santana de Souza, Sandro José de Guerreiro, João Farias Ribeiro-dos-Santos, Ândrea Assumpção, Paulo Pimentel de Santos, Ney Pereira Carneiro dos Santos, Sidney |
author_role |
author |
author2 |
Fernandes, Marianne Rodrigues Ribeiro-dos-Santos, André Maurício Araújo, Gilderlanio Santana de Souza, Sandro José de Guerreiro, João Farias Ribeiro-dos-Santos, Ândrea Assumpção, Paulo Pimentel de Santos, Ney Pereira Carneiro dos Santos, Sidney |
author2_role |
author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Rodrigues, Juliana Carla Gomes Fernandes, Marianne Rodrigues Ribeiro-dos-Santos, André Maurício Araújo, Gilderlanio Santana de Souza, Sandro José de Guerreiro, João Farias Ribeiro-dos-Santos, Ândrea Assumpção, Paulo Pimentel de Santos, Ney Pereira Carneiro dos Santos, Sidney |
dc.subject.por.fl_str_mv |
Native American Pharmacogenetics Exome sequencing Pharmacogenes Precision medicine |
topic |
Native American Pharmacogenetics Exome sequencing Pharmacogenes Precision medicine |
description |
Given the role of pharmacogenomics in the large variability observed in drug efficacy/safety, an assessment about the pharmacogenomic profile of patients prior to drug prescription or dose adjustment is paramount to improve adherence to treatment and prevent adverse drug reaction events. A population commonly underrepresented in pharmacogenomic studies is the Native American populations, which have a unique genetic profile due to a long process of geographic isolation and other genetic and evolutionary processes. Here, we describe the pharmacogenetic variability of Native American populations regarding 160 pharmacogenes involved in absorption, distribution, metabolism, and excretion processes and biological pathways of different therapies. Data were obtained through complete exome sequencing of individuals from 12 different Amerindian groups of the Brazilian Amazon. The study reports a total of 3311 variants; of this, 167 are exclusive to Amerindian populations, and 1183 are located in coding regions. Among these new variants, we found non-synonymous coding variants in the DPYD and the IFNL4 genes and variants with high allelic frequencies in intronic regions of the MTHFR, TYMS, GSTT1, and CYP2D6 genes. Additionally, 332 variants with either high or moderate (disruptive or non-disruptive impact in protein effectiveness, respectively) significance were found with a minimum of 1% frequency in the Amazonian Amerindian population. The data reported here serve as scientific basis for future design of specific treatment protocols for Amazonian Amerindian populations as well as for populations admixed with them, such as the Northern Brazilian population |
publishDate |
2022 |
dc.date.accessioned.fl_str_mv |
2022-06-24T13:20:33Z |
dc.date.available.fl_str_mv |
2022-06-24T13:20:33Z |
dc.date.issued.fl_str_mv |
2022-06-10 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
RODRIGUES, Juliana; FERNANDES, Marianne; RIBEIRO-DOS-SANTOS, André; ARAÚJO, Gilderlanio; SOUZA, Sandro José de; GUERREIRO, João; RIBEIRO-DOS-SANTOS, Ândrea; ASSUMPÇÃO, Paulo; SANTOS, Ney; SANTOS, Sidney. Pharmacogenomic Profile of Amazonian Amerindians. Journal of Personalized Medicine, Nova Iorque (Estados Unidos), v. 12, n. 6, p. 952, jun. 2022. Disponível em: https://www.mdpi.com/2075-4426/12/6/952/htm. Acesso em: 23 jun. 2022. |
dc.identifier.uri.fl_str_mv |
https://repositorio.ufrn.br/handle/123456789/48276 |
dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.3390/jpm12060952 |
identifier_str_mv |
RODRIGUES, Juliana; FERNANDES, Marianne; RIBEIRO-DOS-SANTOS, André; ARAÚJO, Gilderlanio; SOUZA, Sandro José de; GUERREIRO, João; RIBEIRO-DOS-SANTOS, Ândrea; ASSUMPÇÃO, Paulo; SANTOS, Ney; SANTOS, Sidney. Pharmacogenomic Profile of Amazonian Amerindians. Journal of Personalized Medicine, Nova Iorque (Estados Unidos), v. 12, n. 6, p. 952, jun. 2022. Disponível em: https://www.mdpi.com/2075-4426/12/6/952/htm. Acesso em: 23 jun. 2022. |
url |
https://repositorio.ufrn.br/handle/123456789/48276 https://doi.org/10.3390/jpm12060952 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.rights.driver.fl_str_mv |
Attribution 3.0 Brazil http://creativecommons.org/licenses/by/3.0/br/ info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Attribution 3.0 Brazil http://creativecommons.org/licenses/by/3.0/br/ |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
MDPI AG |
publisher.none.fl_str_mv |
MDPI AG |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UFRN instname:Universidade Federal do Rio Grande do Norte (UFRN) instacron:UFRN |
instname_str |
Universidade Federal do Rio Grande do Norte (UFRN) |
instacron_str |
UFRN |
institution |
UFRN |
reponame_str |
Repositório Institucional da UFRN |
collection |
Repositório Institucional da UFRN |
bitstream.url.fl_str_mv |
https://repositorio.ufrn.br/bitstream/123456789/48276/1/PharmacogenomicProfileOfAmazonian_Souza_2022.pdf https://repositorio.ufrn.br/bitstream/123456789/48276/2/license_rdf https://repositorio.ufrn.br/bitstream/123456789/48276/3/license.txt |
bitstream.checksum.fl_str_mv |
e9ad9b005e64a557c13528beaebf10a8 4d2950bda3d176f570a9f8b328dfbbef e9597aa2854d128fd968be5edc8a28d9 |
bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 MD5 |
repository.name.fl_str_mv |
Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN) |
repository.mail.fl_str_mv |
|
_version_ |
1802117846885466112 |