Identification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individuals
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , |
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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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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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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1799133483009835008 |