Evidence mapPaperPMID 39897959Full record

ArticleFrontiers in endocrinology2024

Genomic deletions on 16p11.2 associated with severe obesity in Brazil.

Izadora Sthephanie da Silva Assis, Kaio Cezar Rodrigues Salum, Rafaela de Freitas Martins Felício, Lohanna Palhinha, Gabriella de Medeiros Abreu, Tamara Silva, Fernanda Cristina Carvalho Mattos, Eliane Lopes Rosado, Verônica Marques Zembrzuski, Mario Campos Junior and 5 more

Abstract read
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Article in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Izadora Sthephanie da Silva AssisLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Kaio Cezar Rodrigues SalumLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Rafaela de Freitas Martins FelícioBirth Defects Epidemiology Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Lohanna PalhinhaLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Gabriella de Medeiros AbreuHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Tamara SilvaGenetics Laboratory, Grande Rio University/AFYA, Rio de Janeiro, Brazil.
Fernanda Cristina Carvalho MattosJosué de Castro Nutrition Institute, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Eliane Lopes RosadoJosué de Castro Nutrition Institute, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Verônica Marques ZembrzuskiHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Mario Campos JuniorHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Clarissa Menezes Maya-MonteiroLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Pedro Hernán CabelloHuman Genetics Laboratory, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
João Regis Ivar CarneiroClementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Patrícia Torres BozzaLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.
Ana Carolina Proença da FonsecaLaboratory of Immunopharmacology, Oswaldo Cruz Institute, Oswaldo Cruz Foundation, Rio de Janeiro, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Genetic obesity is considered a rare disease, affecting up to 10% of patients with severe early-onset obesity. Over the past years, significant advances have been made; however, the majority of patients are misdiagnosed with polygenic obesity. Thus, this study aimed to identify deleterious copy number variations (CNVs) linked to obesity and explore the clinical phenotypes. Method: The sample comprised 195 adults with severe obesity (BMI≥35kg/m Results: One patient showed a ~206 kb deletion in the distal of the 16p11.2 region, encompassing twelve genes. The gene linked to the development of severe obesity was Conclusion: Our study showed three genomic deletions at the 16p11.2 region in patients with severe obesity from Brazil. These results support the clinical utility of genetic testing to identify patients with the genetic form of obesity who may benefit from specific medical treatment, family genetic counseling, and targeted therapeutic intervention.

Indexed as

Chromosome DeletionChromosomes, Human, Pair 16Obesity, MorbidAdaptor Proteins, Signal TransducingAdolescentAdultBrazilDNA Copy Number VariationsFemaleHumansMaleMiddle AgedPhenotypeYoung AdultAdaptor Proteins, Signal TransducingSH2B1 protein, humanbariatric surgeryCGH-arraycopy number variationsgenetic obesityMLPAsevere obesitySH2B1

Identifiers

PMID39897959
PMCPMC11781945

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.