Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals

Detalhes bibliográficos
Autor(a) principal: Ginete, Catarina
Data de Publicação: 2021
Outros Autores: Serrasqueiro, Bernardo, Silva-Nunes, José, Veiga, Luisa, Brito, Miguel
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.21/13214
Resumo: Project IPL/2017/genetobese/ESTeSL
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spelling Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individualsObesityMonogenic obesityNext-generation sequencingWomenIPL/2017/genetobese/ESTeSLUIDB/05608/2020UIDP/05608/2020PortugalProject IPL/2017/genetobese/ESTeSLFCT_UIDB/05608/2020. FCT_UIDP/05608/2020.Obesity is a major public health problem, which has a strong genetic component that interplays with environmental factors. Several genes are known to be implicated in the regulation of body weight. The identification of alleles that can be associated with obesity is a key element to control this pandemic. On the basis of a Portuguese population, 65 obesity-related genes are sequenced using Next-Generation Sequencing (NGS) in 72 individuals with obesity, in order to identify variants associated with monogenic obesity and potential risk factors. A total of 429 variants are identified, 129 of which had already been associated with the phenotype. Comparing our results with the European and Global frequencies, from the 1000 Genomes project, 23 potential risk variants are identified. Six new variants are discovered in heterozygous carriers: four missense (genes ALMS1-NM_015120.4:c.5552C>T; SORCS1-NM_001013031.2:c.1072A>G and NM_001013031.2: c.2491A>C; TMEM67-NM_153704.5:c.158A>G) and two synonymous (genes BBS1-NM_024649.4:c.1437C>T; TMEM67-NM_153704.5:c.2583T>C). Functional studies should be performed to validate these new findings and evaluate their penetrance and pathogenicity. Regardless of no cases of monogenic obesity being identified, this kind of investigational study is important when we are still trying to understand the etiology and pathophysiology of obesity. This will allow the identification of rare variants associated with obesity and the study of their prevalence in specific populational groups.MDPIRCIPLGinete, CatarinaSerrasqueiro, BernardoSilva-Nunes, JoséVeiga, LuisaBrito, Miguel2021-04-19T15:59:50Z2021-042021-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.21/13214engGinete C, Serrasqueiro B, Silva-Nunes J, Veiga L, Brito M. Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals. Genes. 2021;12(4):603.10.3390/genes12040603info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-01-17T02:16:16Zoai:repositorio.ipl.pt:10400.21/13214Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:21:12.266193Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals
title Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals
spellingShingle Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals
Ginete, Catarina
Obesity
Monogenic obesity
Next-generation sequencing
Women
IPL/2017/genetobese/ESTeSL
UIDB/05608/2020
UIDP/05608/2020
Portugal
title_short Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals
title_full Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals
title_fullStr Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals
title_full_unstemmed Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals
title_sort Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals
author Ginete, Catarina
author_facet Ginete, Catarina
Serrasqueiro, Bernardo
Silva-Nunes, José
Veiga, Luisa
Brito, Miguel
author_role author
author2 Serrasqueiro, Bernardo
Silva-Nunes, José
Veiga, Luisa
Brito, Miguel
author2_role author
author
author
author
dc.contributor.none.fl_str_mv RCIPL
dc.contributor.author.fl_str_mv Ginete, Catarina
Serrasqueiro, Bernardo
Silva-Nunes, José
Veiga, Luisa
Brito, Miguel
dc.subject.por.fl_str_mv Obesity
Monogenic obesity
Next-generation sequencing
Women
IPL/2017/genetobese/ESTeSL
UIDB/05608/2020
UIDP/05608/2020
Portugal
topic Obesity
Monogenic obesity
Next-generation sequencing
Women
IPL/2017/genetobese/ESTeSL
UIDB/05608/2020
UIDP/05608/2020
Portugal
description Project IPL/2017/genetobese/ESTeSL
publishDate 2021
dc.date.none.fl_str_mv 2021-04-19T15:59:50Z
2021-04
2021-04-01T00:00:00Z
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.uri.fl_str_mv http://hdl.handle.net/10400.21/13214
url http://hdl.handle.net/10400.21/13214
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Ginete C, Serrasqueiro B, Silva-Nunes J, Veiga L, Brito M. Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals. Genes. 2021;12(4):603.
10.3390/genes12040603
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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