ArticleObesity facts2022
The Spectrum of Genetic Variants Associated with the Development of Monogenic Obesity in Qatar.
Article in Obesity facts, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Association of Mutations in theInternational journal of molecular sciences · 2026Pooled it
- Effects of Rare Coding Variants in Severe Early-Onset Obesity Genes in the Population-Based UK Biobank Study.The Journal of clinical endocrinology and metabolism · 2025Article
- A Rare Case of Monogenic Obesity Due to a Novel Variant in theJournal of clinical research in pediatric endocrinology · 2025Article
- Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.International journal of obesity (2005) · 2025Article
- Protein-coding mutation in Adcy3 increases adiposity and alters emotional behaviors sex-dependently in rats.Obesity (Silver Spring, Md.) · 2025Article
- Outcomes Following Metabolic Bariatric Surgery at a Single Center in the United Arab Emirates.Diabetes, metabolic syndrome and obesity : targets and therapy · 2025Article
- Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity.Current obesity reports · 2024Review
- Protein-coding mutation inbioRxiv : the preprint server for biology · 2024Article
- Qatar's genetic counseling landscape: Current insights and future prospects.Genetics in medicine open · 2024Article
- Adenylate cyclase 3: a potential genetic link between obesity and major depressive disorder.Physiological genomics · 2024Review
- Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.The Journal of clinical endocrinology and metabolism · 2023Article
- Obesity Characteristics Are Poor Predictors of Genetic Mutations Associated with Obesity.Journal of clinical medicine · 2023Article
- Rare HeterozygousGenes · 2022Review
- Clinical, genetic, and epidemiological survey of Polish children and adolescents with severe obesity: A study protocol of the Polish-German study project on severe early-onset obesity.Frontiers in endocrinology · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMonogenic obesity (MO) is a rare genetic disease characterized by severe early-onset obesity in affected individuals. Previous genetic studies revealed 8 definitive genes for monogenic non-syndromic obesity; many were discovered in consanguineous populations. Here, we examined MO in the Qatari population, whose population is largely consanguineous (54%) and characterized by extensive obesity (45%).
methodsWhole genome sequencing data of Qatar Biobank samples from 250 subjects with obesity and 250 subjects with normal weight, obtained in association with the Qatar Genome Programme, were searched for genetic variants in the genes known to be associated with MO (i.e., LEP, LEPR, POMC, PCSK1, MC3R, MC4R, MRAP2, and ADCY3). The impact of the variants identified was investigated utilizing in silico tools for prediction in combination with protein visualization by PyMOL.
resultsWe identified potential MO variants in more than 5% of the cases in our cohort. We revealed 11 rare variants in 6 of the genes targeted, including two disease-causing variants in MC4R and MRAP2, all of which were heterozygous. Moreover, enrichment of a heterozygous ADCY3 variant (c.1658C>T; p.A553V) appeared to cause severe obesity in an autosomal dominant manner.
conclusionThese findings highlight the importance of implementing routine testing for genetic variants that predispose for MO in Qatar. Clearly, additional studies of this nature on populations not yet examined are required. At the same time, functional investigations, both in vitro and in vivo, are necessary in order to better understand the role of the variants identified in the pathogenesis of obesity.
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