ArticleEating and weight disorders : EWD2021
Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.
Article in Eating and weight disorders : EWD, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Association of Mutations in theInternational journal of molecular sciences · 2026Pooled it
- Neural Melanocortin Receptors in Fish: Insights into Growth Regulation and Aquaculture Advancement.Biomolecules · 2026Review
- Article
- The miRNomics of antiretroviral therapy-induced obesity.Functional & integrative genomics · 2025Review
- Article
- Genomic deletions on 16p11.2 associated with severe obesity in Brazil.Frontiers in endocrinology · 2024Article
- Modulation of Canine Melanocortin-3 and -4 Receptors by Melanocortin-2 Receptor Accessory Protein 1 and 2.Biomolecules · 2022Article
- The Head-to-Toe Hormone: Leptin as an Extensive Modulator of Physiologic Systems.International journal of molecular sciences · 2022Review
- Regulation of Melanocortin-3 and -4 Receptors by Isoforms of Melanocortin-2 Receptor Accessory Protein 1 and 2.Biomolecules · 2022Article
- The Spectrum of Genetic Variants Associated with the Development of Monogenic Obesity in Qatar.Obesity facts · 2022Article
- Role of N-Linked Glycosylation in PKR2 Trafficking and Signaling.Frontiers in neuroscience · 2021Article
- A Rare Potential Pathogenic Variant in theDiabetes, metabolic syndrome and obesity : targets and therapy · 2021Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMonogenic forms of obesity are caused by single-gene variants which affect the energy homeostasis by increasing food intake and decreasing energy expenditure. Most of these variants result from disruption of the leptin-melanocortin signaling, which can cause severe early-onset obesity and hyperphagia. These mutation have been identified in genes encoding essential proteins to this pathway, including leptin (LEP), melanocortin 2 receptor accessory proteins 2 (MRAP2) and proopiomelanocortin (POMC). We aimed to investigate the prevalence of LEP, MRAP2 and POMC rare variants in severely obese adults, who developed obesity during childhood. To the best of our knowledge, this is the first study screening rare variants of these genes in patients from Brazil.
methodsA total of 122 Brazilian severely obese patients (BMI ≥ 35 kg/m
resultsSixteen different variants were identified in these genes, of which two were novel. Among them, one previous variant with potentially deleterious effect in MRAP2 (p.Arg125Cys) was found. In addition, two heterozygous mutations in POMC (p.Phe87Leu and p.Arg90Leu) were predicted to impair protein function. We also observed a POMC homozygous 9 bp insertion (p.Gly99_Ala100insSerSerGly) in three patients. No pathogenic variant was observed in LEP.
conclusionOur study described for the first time the prevalence of rare potentially pathogenic MRAP2 and POMC variants in a cohort of Brazilian severely obese adults. LEVEL OF EVIDENCE: Level V, cross-sectional descriptive study.
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