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

2021-04Journal article Open access
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dc.contributor.authorGinete, Catarina
dc.contributor.authorSerrasqueiro, Bernardo
dc.contributor.authorSilva-Nunes, José
dc.contributor.authorVeiga, Luisa
dc.contributor.authorBrito, Miguel
dc.date.accessioned2021-04-19T15:59:50Z
dc.date.available2021-04-19T15:59:50Z
dc.date.issued2021-04
dc.descriptionProject IPL/2017/genetobese/ESTeSLpt_PT
dc.descriptionFCT_UIDB/05608/2020. FCT_UIDP/05608/2020.pt_PT
dc.description.abstractObesity 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationGinete 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.pt_PT
dc.identifier.doi10.3390/genes12040603pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/13214
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationProject IPL/2017/genetobese/ESTeSLpt_PT
dc.relationFCT_UIDB/05608/2020pt_PT
dc.relationFCT_UIDP/05608/2020pt_PT
dc.relation.publisherversionhttps://www.mdpi.com/2073-4425/12/4/603pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectObesitypt_PT
dc.subjectMonogenic obesitypt_PT
dc.subjectNext-generation sequencingpt_PT
dc.subjectWomenpt_PT
dc.subjectIPL/2017/genetobese/ESTeSLpt_PT
dc.subjectUIDB/05608/2020pt_PT
dc.subjectUIDP/05608/2020pt_PT
dc.subjectPortugalpt_PT
dc.titleIdentification of genetic variants in 65 obesity related genes in a cohort of Portuguese obese individualspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue4pt_PT
oaire.citation.startPage603pt_PT
oaire.citation.titleGenespt_PT
oaire.citation.volume12pt_PT
person.familyNameHonrado Ginete
person.familyNameVeiga
person.familyNameBrito
person.givenNameAna Catarina
person.givenNameLuisa
person.givenNameMiguel
person.identifier.ciencia-id8715-F62E-1E0F
person.identifier.ciencia-id9413-918D-DB0E
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0002-2334-782X
person.identifier.orcid0000-0003-1153-8343
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridL-2730-2013
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id8318978600
person.identifier.scopus-author-id35224551000
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationdfb2fbba-17ff-42fb-905a-fcfc8f326e1c
relation.isAuthorOfPublicationaac1914a-275f-4be2-819d-ab41d356b45a
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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