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, Luísa, 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/10362/121297
Resumo: Funding: This research was funded by Instituto Politécnico de Lisboa by IDI&CA project IPL/2017/ genetobese/ESTeSL. Fundação Para a Ciência e Tecnologia, Portugal: FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020)–H&TRC.
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spelling Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individualsmonogenic obesitynext-generation sequencing (NGS)obese womenobesitySDG 3 - Good Health and Well-beingFunding: This research was funded by Instituto Politécnico de Lisboa by IDI&CA project IPL/2017/ genetobese/ESTeSL. Fundação Para a Ciência e Tecnologia, Portugal: FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020)–H&TRC.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 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 aetiology 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.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNGinete, CatarinaSerrasqueiro, BernardoSilva-Nunes, JoséVeiga, LuísaBrito, Miguel2021-07-19T22:17:55Z2021-04-192021-04-19T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/121297eng0920-8569PURE: 32545881https://doi.org/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:RCAAP2024-03-11T05:03:31Zoai:run.unl.pt:10362/121297Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:44:33.228595Repositório 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
monogenic obesity
next-generation sequencing (NGS)
obese women
obesity
SDG 3 - Good Health and Well-being
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, Luísa
Brito, Miguel
author_role author
author2 Serrasqueiro, Bernardo
Silva-Nunes, José
Veiga, Luísa
Brito, Miguel
author2_role author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Ginete, Catarina
Serrasqueiro, Bernardo
Silva-Nunes, José
Veiga, Luísa
Brito, Miguel
dc.subject.por.fl_str_mv monogenic obesity
next-generation sequencing (NGS)
obese women
obesity
SDG 3 - Good Health and Well-being
topic monogenic obesity
next-generation sequencing (NGS)
obese women
obesity
SDG 3 - Good Health and Well-being
description Funding: This research was funded by Instituto Politécnico de Lisboa by IDI&CA project IPL/2017/ genetobese/ESTeSL. Fundação Para a Ciência e Tecnologia, Portugal: FCT/MCTES (UIDB/05608/2020 and UIDP/05608/2020)–H&TRC.
publishDate 2021
dc.date.none.fl_str_mv 2021-07-19T22:17:55Z
2021-04-19
2021-04-19T00:00:00Z
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/10362/121297
url http://hdl.handle.net/10362/121297
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 0920-8569
PURE: 32545881
https://doi.org/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.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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